#geneNS	sym
AAAS	ACHALASIA-ADDISONIANISM-ALACRIMA_SYNDROME
AARS1	EARLY-ONSET_EPILEPTIC_ENCEPHALOPATHY_WITH_PERSISTENT_MYELINATION_DEFECT.
AASS	HYPERLYSINEMIA
ABAT	ABAT-related_GABA-transaminase_Deficiency
ABCA1	Tangier_disease
ABCA12	Ichthyosis_harlequin
ABCA4	Cone-rod_dystrophy
ABCB11	ABCB11-RELATED_INTRAHEPATIC_CHOLESTASIS
ABCB6	MICROPHTHALMIA,_ISOLATED,_WITH_COLOBOMA_7
ABCB7	ANEMIA,_SIDEROBLASTIC,_WITH_ATAXIA
ABCC6	ARTERIAL_CALCIFICATION,_GENERALIZED,_OF_INFANCY,_2 PSEUDOXANTHOMA_ELASTICUM
ABCC9	ABCC9-related_Cantu_Syndrome CANTU_SYNDROME_HYPERTRICHOTIC_OSTEOCHONDRODYSPLASIA
ABCD1	ADRENOLEUKODYSTROPHY,_X-LINKED
ABCD4	METHYLMALONIC_ACIDURIA_AND_HOMOCYSTINURIA,_CBLJ_TYPE
ABCG5	Sitosterolemia
ABCG8	Sitosterolemia
ABHD12	PHARC
ABHD16A	ABHD16A-associated_spastic_paraplegia,_intellectual_disability_and_thin_corpus_callosum
ABHD5	ABHD5-related_ichthyotic_neutral_lipid_storage_disease
ABL1	Congenital_heart_defects_and_skeletal_malformations
ACAD9	ACYL-COA_DEHYDROGENASE_FAMILY_MEMBER_TYPE_9_DEFICIENCY
ACADM	MEDIUM_CHAIN_ACYL-COENZYME_A_DEHYDROGENASE_DEFICIENCY
ACADS	SHORT_CHAIN_ACYL-COA_DEHYDROGENASE_DEFICIENCY
ACADVL	VERY_LONG_CHAIN_ACYL-COENZYME_A_DEHYDROGENASE_DEFICIENCY
ACAN	SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_AGGRECAN_TYPE SPONDYLOEPIPHYSEAL_DYSPLASIA_TYPE_KIMBERLEY
ACAT1	ALPHA-METHYLACETOACETIC_ACIDURIA
ACBD5	ACBD5_deficiency
ACBD6	AUTOSOMAL_RECESSIVE_INTELLECTUAL_DEVELOPMENTAL_DISORDER
ACD	Dyskeratosis_Congenita
ACER3	ACER3-related_leukodystrophy
ACO2	INFANTILE_CEREBELLAR-RETINAL_DEGENERATION Optic_atrophy_9
ACOX1	ADRENOLEUKODYSTROPHY_PSEUDONEONATAL
ACP5	SPONDYLOENCHONDRODYSPLASIA_WITH_IMMUNE_DYSREGULATION
ACSL4	INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_63
ACTA1	NEMALINE_MYOPATHY_3
ACTA2	MOYAMOYA_DISEASE_5 Multisystemic_smooth_muscle_dysfunction_syndrome
ACTB	ACTB_Haploinsufficiency_syndrome BARAITSER-WINTER_SYNDROME BARAITSER-WINTER_SYNDROME_1
ACTC1	ACTC1-related_HCM ACTC1-related_distal_arthrogryposis_with_congenital_heart_disease
ACTG1	BARAITSER-WINTER_SYNDROME BARAITSER-WINTER_SYNDROME_2 Isolated_ocular_coloboma
ACTL6B	EPILEPTIC_ENCEPHALOPATHY,_EARLY_INFANTILE INTELLECTUAL_DEVELOPMENTAL_DISORDER_WITH_SEVERE_SPEECH_AND_AMBULATION_DEFECTS
ACVR1	FIBRODYSPLASIA_OSSIFICANS_PROGRESSIVA
ACVR2B	HETEROTAXY_SYNDROME
ACVRL1	Hereditary_haemorrhagic_telangiectasia
ACY1	AMINOACYLASE-1_DEFICIENCY
ADA	ADENOSINE_DEAMINASE_DEFICIENCY
ADAM22	ADAM22-associated_developmental_and_epileptic_encephalopathy
ADAM9	Cone-rod_dystrophy
ADAMTS10	ADAMTS10-related_Weill-Marchesani_syndrome
ADAMTS17	Weill-Marchesani-like_syndrome
ADAMTS18	Microcornea,_myopic_chorioretinal_atrophy,_and_telecanthus
ADAMTS2	Dermatosparaxis_Ehlers_Danlos_syndrome
ADAMTS9	Nephronophthisis_Related_Ciliopathy
ADAMTSL1	Syndromic_congenital_glaucoma
ADAMTSL2	GELEOPHYSIC_DYSPLASIA_1
ADAMTSL4	Ectopia_lentis,_isolated,_autosomal_recessive
ADAR	AICARDI-GOUTIERES_SYNDROME_ASSOCIATED_WITH_A_TYPE_I_INTERFERON_SIGNATURE AICARDI-GOUTIERES_SYNDROME_ASSOCIATED_WITH_A_TYPE_I_INTERFERON_SIGNATURE_BIALLELIC DYSCHROMATOSIS_SYMMETRICA_HEREDITARIA_1
ADARB1	ADARB1-associated_Microcephaly,_Intellectual_Disability,_and_Seizures
ADCY5	ADCY5-related_developmental_disorder_(monoallelic)
ADGRA3	Non-syndromic_retinitis_pigmentosa
ADGRG1	POLYMICROGYRIA
ADGRG6	LETHAL_CONGENITAL_CONTRACTURE_SYNDROME_9
ADGRV1	Usher_syndrome,_type_2C
ADIPOR1	Syndromic_retinitis_pigmentosa
ADK	AUTOSOMAL_RECESSIVE_INTELLECTUAL_DEVELOPMENTAL_DISORDER
ADNP	INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AUTOSOMAL_DOMINANT,_28
ADPRS	Neurodegeneration_with_Developmental_Delay_Ataxia_and_Axonal_Neuropathy
ADRA2B	AUTOSOMAL_RECESSIVE_INTELLECTUAL_DEVELOPMENTAL_DISORDER
ADSL	ADENYLOSUCCINASE_DEFICIENCY
AFF2	FRAGILE_X-E_INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROME
AFF3	Skeletal_dysplasia_with_severe_neurological_disease
AFF4	CORNELIA_DE_LANGE-LIKE_SYNDROME
AFG2A	EPILEPSY,_HEARING_LOSS,_AND_INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROME
AFG2B	SPATA5L1-associated_sensorineural_hearing_loss_and_intellectual_disability
AFG3L2	AFG3L2-related_ataxia_and_seizures
AGA	ASPARTYLGLUCOSAMINURIA
AGBL1	DOMINANT_LATE-ONSET_FUCHS_CORNEAL_DYSTROPHY
AGBL5	Retinitis_pigmentosa
AGK	SENGERS_SYNDROME
AGL	GLYCOGEN_STORAGE_DISEASE_TYPE_III
AGO1	AGO1-related_developmental_disorder_(monoallelic)
AGPAT2	Lipodystrophy,_congenital_generalised_type_1
AGPAT3	AGPAT3-related_intellectual_disability_and_retinitis_pigmentosa_
AGPS	AGPS-related_rhizomelic_chondrodysplasia_punctata
AGTPBP1	NEURODEGENERATION,_CHILDHOOD-ONSET,_WITH_CEREBELLAR_ATROPHY
AGXT	HYPEROXALURIA,_PRIMARY,_TYPE_1
AHDC1	XIA-GIBBS_SYNDROME
AHI1	JOUBERT_SYNDROME
AHR	Retinitis_pigmentosa
AIFM1	COMBINED_OXIDATIVE_PHOSPHORYLATION_DEFICIENCY_6
AIMP1	LEUKODYSTROPHY,_HYPOMYELINATING,_3
AIP	Pituitary_adenoma_predisposition
AIPL1	LEBER_CONGENITAL_AMAUROSIS_4
AIRE	AUTOIMMUNE_POLYENDOCRINOPATHY_SYNDROME_TYPE_1
AK2	RETICULAR_DYSGENESIS
AKR1D1	BILE_ACID_SYNTHESIS_DEFECT,_CONGENITAL,_2
AKR1E2	Congenital_cataract
AKT1	PROTEUS_SYNDROME
AKT2	AKT2-related_hypoinsulinemic_hypoglycemia_and_hemihypertrophy
AKT3	HEMIMEGALENCEPHALY_AKT3
ALAD	ACUTE_HEPATIC_PORPHYRIA
ALDH18A1	CUTIS_LAXA,_AUTOSOMAL_DOMINANT_3 CUTIS_LAXA,_AUTOSOMAL_RECESSIVE,_TYPE_IIIA INTELLECTUAL_DEVELOPMENTAL_DISORDER-JOINT_HYPERMOBILITY-SKIN_LAXITY_WITH_OR_WITHOUT_METABOLIC_ABNORMALITIES SPASTIC_PARAPLEGIA_9,_AUTOSOMAL_DOMINANT Spastic_paraplegia_9B,_autosomal_recessive
ALDH1A2	ALDH1A2-related_diaphragmatic_hernia_and_pulmonary_hypoplasia
ALDH1A3	ANOPHTHALMIA/MICROPHTHALMIA
ALDH3A2	SJOGREN-LARSSON_SYNDROME sjogren-larsson_syndrome
ALDH4A1	HYPERPROLINEMIA_TYPE_2
ALDH5A1	SUCCINATE_SEMIALDEHYDE_DEHYDROGENASE_DEFICIENCY
ALDH7A1	PYRIDOXINE-DEPENDENT_EPILEPSY
ALDOA	GLYCOGEN_STORAGE_DISEASE_XII
ALG1	ALG1-CDG
ALG11	ALG11-CDG
ALG12	CONGENITAL_DISORDER_OF_GLYCOSYLATION_TYPE_1G
ALG13	CONGENITAL_DISORDER_OF_GLYCOSYLATION,_TYPE_IS
ALG2	ALG2-CDG
ALG3	ALG3-related_congenital_disorder_of_glycosylation
ALG6	ALG6-CDG
ALG8	ALG8-CDG
ALG9	ALG9-CDG
ALK	Neuroblastoma,_susceptibility_to
ALKBH8	ALKBH8-related_intellectual_disability,_microcephaly_and_seizures
ALMS1	ALSTROM_SYNDROME
ALOX12B	Congenital_ichthyosis_type_2
ALOXE3	Congenital_ichthyosis_type_3
ALPK1	ROSAH_syndrome
ALPK3	ALPK3-related_HCM
ALPL	HYPOPHOSPHATASIA
ALS2	ALS2-RELATED_DISORDERS
ALX1	FRONTONASAL_DYSPLASIA_TYPE_3
ALX3	FRONTONASAL_DYSPLASIA_TYPE_1
ALX4	FRONTONASAL_DYSPLASIA_2 PARIETAL_FORAMINA_2
AMACR	Alpha-methylacyl-CoA_racemase_deficiency
AMER1	OSTEOPATHIA_STRIATA_WITH_CRANIAL_SCLEROSIS
AMFR	AMFR-related_spastic_paraplegia_with/without_neurodevelopmental_delay
AMOTL1	AMOTL1-related_orofacial_clefting,_cardiac_anomalies,_and_tall_stature
AMPD2	PONTOCEREBELLAR_HYPOPLASIA
AMT	GLYCINE_ENCEPHALOPATHY
ANAPC1	Rothmund-Thomson_Syndrome_Type_1
ANGPT2	ANGPT2-related_non-immune_hydrops_fetalis
ANK2	ANK2-related_neurodevelopmental_disorder
ANKH	CHONDROCALCINOSIS_2 CRANIOMETAPHYSEAL_DYSPLASIA_JACKSON_TYPE
ANKRD11	KBG_SYNDROME
ANKRD17	ANKRD17-associated_neurodevelopmental_disorder
ANKRD26	THROMBOCYTOPENIA_2
ANO1	ANO1-associated_intestinal_disease
ANO5	GNATHODIAPHYSEAL_DYSPLASIA LIMB-GIRDLE_MUSCULAR_DYSTROPHY_TYPE_2L
ANTXR1	GAPO_SYNDROME
ANTXR2	Juvenile_hyaline_fibromatosis
AP1B1	MEDNIK-like_Syndrome
AP1G1	AP1G1-related_intellectual_disability,_biallelic AP1G1-related_intellectual_disability_and_epilepsy,_monoallelic
AP1S2	INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_59
AP2M1	Developmental_and_Epileptic_Encephalopathy
AP2S1	AP2S1-related_developmental_disorder_(monoallelic)
AP3B1	Hermansky-Pudlak_syndrome_2
AP3B2	Epileptic_Encephalopathy_with_Optic_Atrophy
AP4B1	CEREBRAL_PALSY_SPASTIC_QUADRIPLEGIC_TYPE_5
AP4E1	CEREBRAL_PALSY_SPASTIC_QUADRIPLEGIC_TYPE_4
AP4M1	CEREBRAL_PALSY_SPASTIC_QUADRIPLEGIC_TYPE_3
AP4S1	CEREBRAL_PALSY_SPASTIC_QUADRIPLEGIC_TYPE_6
APC	ADENOMATOUS_POLYPOSIS_COLI DESMOID_DISEASE,_HEREDITARY
APC2	Lissencephaly,_Subcortical_Heterotopia,_and_Global_Developmental_Delay
APOA1	Amyloidosis,_familial_visceral
APOA5	Hypertriglycidaemia,_familial
APOB	Hypercholesterolaemia,_autosomal_dominant,_type_B
APOC2	Hyperlipoproteinaemia,_type_IB
APTX	ATAXIA_WITH_OCULOMOTOR_APRAXIA_1
AQP5	PPK_(Bothnia)
AR	ANDROGEN_INSENSITIVITY_SYNDROME SPINAL_AND_BULBAR_MUSCULAR_ATROPHY
ARCN1	Microcephalic_dwarfism
ARF1	PERIVENTRICULAR_NODULAR_HETEROTOPIA_8
ARF3	ARF3-related_neurodevelopmental_disorder
ARFGEF1	ARFGEF1-related_intellectual_disability_and_epilepsy
ARFGEF2	PERIVENTRICULAR_HETEROTOPIA_WITH_MICROCEPHALY
ARG1	ARGININEMIA
ARHGAP31	ADAMS-OLIVER_SYNDROME_1
ARHGAP35	ARHGAP35-related_developmental_disorder_(monoallelic)
ARHGAP36	Bazex-Dupre-Christol_basal_cell_carcinoma_susceptibility_syndrome
ARHGEF18	Retinal_dystrophy
ARHGEF6	INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_46
ARHGEF9	ARHGEF9-related_developmental_disorder_(X-linked_dominant)
ARID1A	ARID1A-related_Coffin-Siris_Syndrome
ARID1B	ARID1B-related_Coffin-Siris_Syndrome
ARID2	ARID2-Coffin-Siris_like_disorder
ARL13B	Joubert_syndrome_8
ARL14EP	AUTOSOMAL_RECESSIVE_INTELLECTUAL_DEVELOPMENTAL_DISORDER
ARL2	MRCS_syndrome
ARL2BP	Retinitis_pigmentosa_with_or_without_situs_inversus
ARL3	JOUBERT_SYNDROME Retinitis_pigmentosa
ARL6	ARL6-related_retinal_dystrophy BARDET-BIEDL_SYNDROME_TYPE_3
ARMC9	Joubert_syndrome_30
ARNT2	ARNT2-associated_hypopituitarism,_post-natal_microcephaly,_visual_and_renal_anomalies
ARPC4	ARPC4-related_microcephaly_and_developmental_delay
ARSA	ARYLSULFATASE_A_DEFICIENCY
ARSB	MUCOPOLYSACCHARIDOSIS_TYPE_6
ARSG	Atypical_Usher_syndrome
ARSL	ARSL-related_chondrodysplasia_punctata
ARX	INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_ARX-RELATED PARTINGTON_SYNDROME
ASAH1	ASAH1-related_Farber_lipogranulomatosis SPINAL_MUSCULAR_ATROPHY_ASSOCIATED_WITH_PROGRESSIVE_MYOCLONIC_EPILEPSY
ASCC1	Prenatal_Spinal_Muscular_Atrophy_and_Congenital_Bone_Fractures
ASCC3	AUTOSOMAL_RECESSIVE_INTELLECTUAL_DEVELOPMENTAL_DISORDER
ASCL1	AUTOSOMAL_RECESSIVE_INTELLECTUAL_DEVELOPMENTAL_DISORDER
ASH1L	INTELLECTUAL_DISABILITY
ASL	ARGININOSUCCINATE_LYASE_DEFICIENCY
ASNS	Asparagine_synthetase_deficiency
ASPA	CANAVAN_DISEASE
ASPH	ASPH-related_dysmorphism,_lens_dislocation,_anterior_segment_abnormalities,_and_filtering_blebs
ASPM	PRIMARY_AUTOSOMAL_RECESSIVE_MICROCEPHALY
ASRGL1	Retinal_dystrophy
ASS1	CITRULLINEMIA_TYPE_I
ASXL1	BOHRING-OPITZ_SYNDROME
ASXL2	Developmental_delay,_macrocephaly,_and_dysmorphic_features
ASXL3	BAINBRIDGE-ROPERS_SYNDROME
ATAD3A	ATAD3A_disorder_-_global_developmental_delay,_hypotonia,_optic_atrophy,_axonal_neuropathy,_and_hypertrophic_cardiomyopathy
ATF6	Achromatopsia_7
ATG4D	ATG4D-related_neurodevelopmental_disorder
ATG7	ATG7-related_intellectual_disability_and_ataxia
ATIC	AICA-RIBOSURIA
ATL1	ATL1-associated_hereditary_spastic_paraplegia
ATM	ATAXIA-TELANGIECTASIA ATM-related_cancer
ATN1	congenital_hypotonia,_epilepsy,_developmental_delay,_digit_abnormalities
ATOH7	Persistent_hyperplastic_primary_vitreous,_autosomal_recessive RETINAL_NON-ATTACHMENT_CONGENITAL_NON-SYNDROMIC
ATP13A2	PARKINSON_DISEASE_9
ATP1A1	Renal_Hypomagnesemia_Refractory_Seizures_and_Intellectual_Disability
ATP1A2	ATP1A2-related_epileptic_encephalopathy Autosomal_recessive_ATP1A2-related_neuronal_migration_disorder_with_epilepsy_ MIGRAINE,_FAMILIAL_HEMIPLEGIC,_ATP1A2-related
ATP1A3	ALTERNATING_HEMIPLEGIA_OF_CHILDHOOD
ATP2A2	Acrokeratosis_verruciformis
ATP2B1	ATP2B1-related_neurodevelopmental_disorder
ATP2C1	Hailey-Hailey_disease
ATP5F1A	ATP5F1A-related_failure_to_thrive,_hyperlactatemia_and_hyperammonemia ATP5F1A-related_mitochondrial_encephalopathy
ATP5F1D	ATP5F1D_metabolic_disorder
ATP6AP2	INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_WITH_EPILEPSY
ATP6V0A1	ATP6V0A1-related_developmental_disorder_(monoallelic)
ATP6V0A2	Wrinkly_skin_syndrome
ATP6V0C	ATP6V0C-related_Developmental_Disorder
ATP6V1A	Autosomal_Recessive_Cutis_Laxa EPILEPTIC_ENCEPHALOPATHY,_INFANTILE_OR_EARLY_CHILDHOOD,_3
ATP6V1B1	DISTAL_RENAL_TUBULAR_ACIDOSIS_WITH_DEAFNESS
ATP6V1B2	ZIMMERMANN-LABAND_SYNDROME
ATP6V1E1	Mutations_in_ATP6V1E1_or_ATP6V1A_Cause_Autosomal_Recessive_Cutis_Laxa
ATP7A	Cutis_laxa_X_linked/Occipital_Horn_Syndrome MENKES_DISEASE SPINAL_MUSCULAR_ATROPHY,_DISTAL,_X-LINKED_3
ATP8A2	CEREBELLAR_ATAXIA,_INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AND_DYSEQUILIBRIUM_SYNDROME_4
ATP8B1	ATP8B1-RELATED_INTRAHEPATIC_CHOLESTASIS
ATP9A	ATP9A-related_neurodevelopmental_disorder
ATR	SECKEL_SYNDROME_TYPE_1
ATRIP	Breast_cancer,_susceptibility_to
ATRX	ALPHA-THALASSEMIA_INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROME_X-LINKED_NON-DELETION_TYPE
ATXN7	Spinocerebellar_ataxia_7
AUH	3-METHYLGLUTACONIC_ACIDURIA_TYPE_1
AUTS2	SYNDROMIC_INTELLECTUAL_DISABILITY
AXIN1	CAUDAL_DUPLICATION_ANOMALY
B3GALNT2	MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_(CONGENITAL_WITH_BRAIN_AND_EYE_ANOMALIES),_TYPE_A,_11
B3GALT6	SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_WITH_JOINT_LAXITY_TYPE_1
B3GAT3	MULTIPLE_JOINT_DISLOCATIONS,_SHORT_STATURE,_AND_CRANIOFACIAL_DYSMORPHISM_WITH_OR_WITHOUT_CONGENITAL_HEART_DEFECTS
B3GLCT	Peters-plus_syndrome
B4GALT1	CONGENITAL_DISORDER_OF_GLYCOSYLATION,_TYPE_IId
B4GALT7	EHLERS-DANLOS_SYNDROME_PROGEROID_TYPE Ehlers-Danlos_syndrome_with_short_stature_and_limb_anomalies Spondylodysplastic_Ehlers_Danlos_syndrome
B9D1	MECKEL_SYNDROME_9
BAG3	BAG3-related_DCM BAG3-related_Myofibrillar_myopathy
BANF1	NESTOR-GUILLERMO_PROGERIA_SYNDROME
BAP1	BAP1-associated_neurodevelopmental_syndrome TUMOR_PREDISPOSITION_SYNDROME
BARD1	Breast_cancer,_susceptibility_to
BAZ2B	BAZ2B-related_neurodevelopmental_disorder
BBIP1	Bardet-Biedl_syndrome_18
BBS1	BARDET-BIEDL_SYNDROME_TYPE_1
BBS10	BARDET-BIEDL_SYNDROME_TYPE_10
BBS12	BARDET-BIEDL_SYNDROME_TYPE_12
BBS2	BARDET-BIEDL_SYNDROME_TYPE_2 Retinitis_pigmentosa_74
BBS4	BARDET-BIEDL_SYNDROME_TYPE_4
BBS5	BARDET-BIEDL_SYNDROME_TYPE_5
BBS7	BARDET-BIEDL_SYNDROME_TYPE_7
BBS9	BARDET-BIEDL_SYNDROME_TYPE_9
BCAP31	DEAFNESS,_DYSTONIA,_AND_CENTRAL_HYPOMYELINATION_WITH_DISORGANIZATION_OF_THE_GOLGI_APPARATUS
BCAS3	BCAS3-related_neurodevelopmental_disorder_with_thinning_of_corpus_callosum_and_cerebellar_atrophy
BCKDHA	MAPLE_SYRUP_URINE_DISEASE
BCKDHB	MAPLE_SYRUP_URINE_DISEASE
BCL11A	INTELLECTUAL_DISABILITY
BCL11B	BCL11B-related_neurodevelopmental_disorder
BCOR	MICROPHTHALMIA_SYNDROMIC_TYPE_2
BCORL1	Shukla-Vernon_Syndrome
BCS1L	GRACILE_SYNDROME
BEST1	Bestrophinopathy,_autosomal_recessive Macular_dystrophy,_vitelliform,_2 Microcornea,_rod-cone_dystrophy,_cataract,_and_posterior_staphyloma Retinitis_pigmentosa
BFSP1	Cataract_33,_multiple_types Cataract_33,_multiple_types_(monoallelic,_uncertain)
BFSP2	CATARACT_12,_MULTIPLE_TYPES CATARACT_12,_MULTIPLE_TYPES_(biallelic,_all_missense/in_frame) CATARACT_AUTOSOMAL_DOMINANT_BFSP2-RELATED
BGN	Severe_syndromic_form_of_thoracic_aortic_aneurysm_&_dissection X-Linked_Spondyloepimetaphyseal_Dysplasia
BHLHA9	MESOAXIAL_SYNOSTOTIC_SYNDACTYLY_WITH_PHALANGEAL_REDUCTION,_MALIK-PERCIN_TYPE SPLIT_HAND_AND_FOOT_MALFORMATION
BICD2	Proximal_spinal_muscular_atrophy_with_brain_anomalies
BICRA	BICRA-related_Developmental_Disorder
BIN1	CENTRONUCLEAR_MYOPATHY_2
BLM	BLOOM_SYNDROME
BLOC1S3	BLOC1S3-related_Hermansky-Pudlak_syndrome
BLOC1S6	HERMANSKY-PUDLAK_SYNDROME_9
BLTP1	Brain_atrophy,_Dandy_Walker_and_Contractures
BMP2	Short_stature,_palatal_anomalies,_congenital_heart_disease,_and_skeletal_malformations
BMP4	BMP4-related_microphthalmia_with_brain_and_digit_anomalies
BMPER	DIAPHANOSPONDYLODYSOSTOSIS
BMPR1A	JUVENILE_POLYPOSIS_SYNDROME,_INFANTILE_FORM
BMPR1B	BRACHYDACTYLY_TYPE_A2
BNC2	Congenital_Lower_Urinary_Tract_Obstruction
BOLA3	MULTIPLE_MITOCHONDRIAL_DYSFUNCTIONS_SYNDROME_2
BORCS8	BORCS8-related_early-infantile_neurological_disorder_with_severe_intellectual_disability,_hypotonia_and_congenital_heart_disease
BPNT2	CHONDRODYSPLASIA_WITH_JOINT_DISLOCATIONS,_GRAPP_TYPE
BPTF	Developmental_and_Speech_Delay,_Postnatal_Microcephaly,_and_Dysmorphic_Features
BRAF	CARDIOFACIOCUTANEOUS_SYNDROME LEOPARD_SYNDROME_TYPE_3 NOONAN_SYNDROME_TYPE_7
BRAT1	LETHAL_NEONATAL_RIGIDITY_AND_SEIZURE_SYNDROME
BRCA1	BRCA1-related_Fanconi_anaemia BRCA1_related_CANCER
BRCA2	BRCA2_associated_CANCER FANCONI_ANEMIA_COMPLEMENTATION_GROUP_D_TYPE_1
BRD4	CORNELIA_DE_LANGE-LIKE_SYNDROME
BRF1	BRF1-related_cerebellofaciodental_syndrome
BRIP1	FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_J
BRPF1	BRPF1_associated_syndromic_intellectual_disability_with_ptosis
BRSK2	Neurodevelopmental_Disorder
BRWD3	INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_93
BSCL2	Lipodystrophy,_congenital_generalised_type_2
BSN	BSN-related_epilepsy_
BSND	BARTTER_SYNDROME_TYPE_4A
BTD	BIOTINIDASE_DEFICIENCY
BUB1	BUB1-related_microcephaly_and_developmental_disorder
BUB1B	MOSAIC_VARIEGATED_ANEUPLOIDY_SYNDROME_1
C12orf57	TEMTAMY_SYNDROME;_COLOBOMA,_HYPOPLASTIC_CORPUS_CALLOSUM_AND_INTELLECTUAL_DISABILITY
C19orf12	Neurodegeneration_with_brain_iron_accumulation_4
C1QBP	Severe_Neonatal-,_Childhood-,_or_Later-Onset_Cardiomyopathy_Associated_with_Combined_Respiratory-Chain_Deficiencies
C1QTNF5	Retinal_degeneration,_late-onset,_autosomal_dominant
C2CD3	OROFACIODIGITAL_SYNDROME_XIV
CA2	OSTEOPETROSIS_AUTOSOMAL_RECESSIVE_TYPE_3
CA4	Retinitis_pigmentosa
CA5A	HYPERAMMONEMIA_DUE_TO_CARBONIC_ANHYDRASE_VA_DEFICIENCY
CA8	CEREBELLAR_ATAXIA_INTELLECTUAL_DEVELOPMENTAL_DISORDER_AND_DYSEQUILIBRIUM_SYNDROME_TYPE_3
CABP4	Cone-rod_synaptic_disorder,_congenital_nonprogressive
CACNA1A	EPILEPTIC_ENCEPHALOPATHY
CACNA1B	NEURODEVELOPMENTAL_DISORDER_WITH_SEIZURES_AND_NONEPILEPTIC_HYPERKINETIC_MOVEMENTS
CACNA1C	CACNA1C-related_Timothy_syndrome
CACNA1D	PRIMARY_ALDOSTERONISM,_SEIZURES,_AND_NEUROLOGIC_ABNORMALITIES SINOATRIAL_NODE_DYSFUNCTION_AND_DEAFNESS
CACNA1E	Epileptic_Encephalopathy_with_Contractures,_Macrocephaly,_and_Dyskinesia
CACNA1F	Aland_Island_eye_disease
CACNA1G	AUTOSOMAL_RECESSIVE_INTELLECTUAL_DEVELOPMENTAL_DISORDER CACNA1G-related_developmental_disorder_(monoallelic)
CACNA1H	EPILEPSY,_CHILDHOOD_ABSENCE,_SUSCEPTIBILITY_TO,_6
CACNA2D1	CACNA2D1-related_neurodevelopmental_disorder_
CACNA2D4	Retinal_cone_dystrophy_4
CACNB4	JUVENILE_MYOCLONIC_EPILEPSY
CAD	Uridine-responsive_epileptic_encephalopathy
CALM1	CALM1-related_CPVT CALM1-related_LQTS
CALM2	CALM2-related_CPVT CALM2-related_LQTS
CALM3	CALM3-related_CPVT CALM3-related_LQTS
CAMK2A	INTELLECTUAL_DISABILITY
CAMK2B	INTELLECTUAL_DISABILITY
CAMK2D	CAMK2D-related_neurodevelopmental_disorder_and_dilated_cardiomyopathy_
CAMK2G	INTELLECTUAL_DEVELOPMENTAL_DISORDER_59
CAMSAP1	CAMSAP1-associated_neuronal_migration_disorder
CAMTA1	CAMTA1-related_cerebellar_dysfunction_with_variable_cognitive_and_behavioral_abnormalities
CANT1	Desbuquois_dysplasia_1
CAPN10	AUTOSOMAL_RECESSIVE_INTELLECTUAL_DEVELOPMENTAL_DISORDER
CAPN5	Vitreoretinopathy,_neovascular_inflammatory
CAPRIN1	CAPRIN1-related_neurodevelopmental_disorder_
CARD14	Psoriasis_susceptibilty_2
CARS1	Microcephaly_Developmental_Delay_and_Brittle_Hair_and_Nails
CARS2	Epileptic_encephalopathy_with_complex_movement_disorder_and_regression
CASK	FG_SYNDROME_TYPE_4 INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_CASK-RELATED MRX_WITH/WITHOUT_NYSTAGMUS
CASP10	Autoimmune_lymphoproliferative_syndrome_type_IIA
CASP2	CASP2-related_developmental_disorder_with_lissencephaly
CASQ2	CASQ2-related_CPVT
CAV1	CONGENITAL_GENERALIZED_LIPODYSTROPHY_TYPE_3
CBFB	CBFB-related_cleidocranial_dysplasia
CBL	NOONAN_SYNDROME-LIKE_DISORDER_WITH_OR_WITHOUT_JUVENILE_MEYLOMONOCYTIC_LEUKEMIA
CBS	CBS-related_homocystinuria_due_to_cystathionine_beta-synthase_deficiency
CBX1	CBX1-related_neurodevelopmental_disorder
CC2D1A	INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_RECESSIVE_TYPE_3
CC2D2A	JOUBERT_SYNDROME_9
CCBE1	HENNEKAM_LYMPHANGIECTASIA-LYMPHEDEMA_SYNDROME
CCDC103	PRIMARY_CILIARY_DYSKINESIA
CCDC115	Disorder_of_Golgi_homeostasis
CCDC22	SYNDROMIC_X-LINKED_INTELLECTUAL_DISABILITY
CCDC32	CCDC32-associated_neurodevelopmental_syndrome
CCDC39	CILIARY_DYSKINESIA,_PRIMARY,_14
CCDC40	CILIARY_DYSKINESIA,_PRIMARY,_15
CCDC47	Woolly_Hair_Liver_Dysfunction_Dysmorphic_Features_and_Global_Developmental_Delay
CCDC65	PRIMARY_CILIARY_DYSKINESIA
CCDC78	CCDC78-related_congenital_myopathy
CCDC8	THREE_M_SYNDROME_3
CCDC88A	CCDC88A-related_PEHO-like_syndrome_with_neuronal_migration_disorder,_seizures_and_microcephaly
CCDC88C	HYDROCEPHALUS,_NONSYNDROMIC,_AUTOSOMAL_RECESSIVE
CCM2	Cerebral_cavernous_malformation_2
CCNA2	AUTOSOMAL_RECESSIVE_INTELLECTUAL_DEVELOPMENTAL_DISORDER
CCND2	MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS_SYNDROME
CCNK	Syndromic_Neurodevelopmental_Disorder_with_Distinctive_Facial_Dysmorphism
CCNO	CILIARY_DYSKINESIA,_PRIMARY,_29
CCNQ	STAR_SYNDROME
CCT2	LEBER_CONGENITAL_AMAUROSIS
CD151	NEPHROPATHY_WITH_PRETIBIAL_EPIDERMOLYSIS_BULLOSA_AND_DEAFNESS
CD96	C_SYNDROME
CDC40	CDC40-related_Neurodegenerative_Pontocerebellar_Hypoplasia_with_Microcephaly
CDC42	CDC42-related_Neurodevelopmental_Disorder
CDC42BPB	CDC42BPB-related_Neurodevelopmental_Disorder
CDC45	Meier-Gorlin_Syndrome_and_Craniosynostosis
CDC6	MEIER-GORLIN_SYNDROME_5
CDC73	HYPERPARATHYROIDISM-JAW_TUMOR_SYNDROME
CDH1	Blepharo-cheiro-dontic_syndrome GASTRIC_CANCER,_FAMILIAL_DIFFUSE,_WITH_OR_WITHOUT_CLEFT_LIP_AND/OR_PALATE
CDH11	CDH11-related_brachioskeletogenital_syndrome
CDH15	INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_DOMINANT_TYPE_3
CDH2	Syndromic_Neurodevelopmental_Disorder_with_Corpus_Collosum,_Axon,_Cardiac,_Ocular,_and_Genital_Defects
CDH23	DEAFNESS_AUTOSOMAL_RECESSIVE_TYPE_12 USHER_SYNDROME_TYPE_1D Usher_syndrome,_type_1D
CDH3	EEM_SYNDROME
CDHR1	Retinitis_pigmentosa_65
CDK10	Severe_Growth_Retardation,_Spine_Malformations,_and_Developmental_Delays
CDK13	Syndromic_INTELLECTUAL_DISABILITY_with_or_without_congenital_heart_disease
CDK16	INTELLECTUAL_DISABILITY
CDK19	CDK19-associated_Intellectual_Disability_and_Epileptic_Encephalopathy
CDK4	MELANOMA,_CUTANEOUS_MALIGNANT,_3 Melanoma-pancreatic_cancer_syndrome
CDK5RAP2	PRIMARY_AUTOSOMAL_RECESSIVE_MICROCEPHALY
CDK8	SYNDROMIC_INTELLECTUAL_DISABILITY
CDKL5	EPILEPTIC_ENCEPHALOPATHY_EARLY_INFANTILE_TYPE_2
CDKN1B	Multiple_endocrine_neoplasia,_type_IV
CDKN1C	CDKN1C-related_Beckwith-Wiedemann_syndrome IMAGe_Syndrome
CDKN2A	MELANOMA,_CUTANEOUS_MALIGNANT,_2
CDON	HOLOPROSENCEPHALY_11
CDSN	Hypotrichosis_simplex_of_the_scalp
CDT1	MEIER-GORLIN_SYNDROME_4
CEBPA	LEUKEMIA,_ACUTE_MYELOID
CELF2	CELF2-related_neurodevelopmental_disorder
CENPF	Stromme_syndrome
CENPJ	CENPJ-related_developmental_disorder
CEP104	JOUBERT_SYNDROME
CEP120	Ciliopathy_syndrome
CEP135	PRIMARY_MICROCEPHALY_AND_DISTURBED_CENTROSOMAL_FUNCTION
CEP152	CEP152-related_Developmental_Disorder
CEP164	Nephronophthisis_15
CEP250	Retinal_dystrophy
CEP290	JOUBERT_SYNDROME_TYPE_5
CEP41	JOUBERT_SYNDROME_15
CEP57	MOSAIC_VARIEGATED_ANEUPLOIDY_SYNDROME_2
CEP63	SECKEL_SYNDROME_6
CEP78	Cone-rod_dystrophy_and_hearing_loss
CEP83	INFANTILE_NEPHRONOPHTHISIS_AND_INTELLECTUAL_DISABILITY
CEP85L	CEP85L-associated_posterior-predominant_lissencephaly
CERKL	Retinitis_pigmentosa_26
CERT1	INTELLECTUAL_DISABILITY
CFAP298	PRIMARY_CILIARY_DYSKINESIA
CFAP300	PRIMARY_CILIARY_DYSKINESIA
CFAP410	CFAP410-related_retinal_dystrophy_with_or_without_axial_spondylometaphyseal_dysplasia
CFAP418	CONE-ROD_DYSTROPHY_16
CFC1	CFC1-RELATED_CONOTRUNCAL_HEART_MALFORMATIONS
CFL2	NEMALINE_MYOPATHY_7
CHAMP1	CHAMP1-related_neurodevelopmental_disorder
CHD1	CHD1-related_neurodevelopment_disorder
CHD2	EPILEPTIC_ENCEPHALOPATHY
CHD3	Macrocephaly_and_impaired_speech_and_language
CHD4	Syndromic_INTELLECTUAL_DISABILITY_with_or_without_congenital_heart_disease
CHD5	CHD5-associated_neurodevelopmental_disorder_with_intellectual_disability,_speech_delay_and_epilepsy
CHD7	CHARGE_SYNDROME
CHD8	AUTISM
CHEK2	CHEK2-related_cancer_predisposition CHEK2_related_CANCER
CHKA	CHKA-related_neurodevelopmental_disorder
CHM	CHOROIDEREMIA
CHMP1A	PONTOCEREBELLAR_HYPOPLASIA_AND_MICROCEPHALY
CHMP4B	Cataract_31,_multiple_types
CHN1	Duane_retraction_syndrome_2
CHRDL1	MEGALOCORNEA,_X-LINKED
CHRM1	CHRM1-associated_intellectual_disability
CHRNA1	MULTIPLE_PTERYGIUM_SYNDROME_LETHAL_TYPE
CHRNA2	CHRNA2-RELATED_NOCTURNAL_FRONTAL_LOBE_EPILEPSY,_AUTOSOMAL_DOMINANT
CHRNA3	CHRNA3-related_congenital_anomalies_of_the_kidney_and_urinary_tract
CHRNA4	NOCTURNAL_FRONTAL_LOBE_EPILEPSY_TYPE_1
CHRNB1	CHRNB1-related_congenital_myaesthenia,_biallelic CHRNB1-related_congenital_myaesthenia,_monoallelic
CHRNB2	CHRNB2-RELATED_NOCTURNAL_FRONTAL_LOBE_EPILEPSY,_AUTOSOMAL_DOMINANT
CHRNG	MULTIPLE_PTERYGIUM_SYNDROME_ESCOBAR_VARIANT
CHST14	EHLERS-DANLOS_SYNDROME_MUSCULOCONTRACTURAL_TYPE
CHST3	SPONDYLOEPIPHYSEAL_DYSPLASIA_WITH_CONGENITAL_JOINT_DISLOCATIONS
CHST6	Macular_corneal_dystrophy
CHSY1	TEMTAMY_PREAXIAL_BRACHYDACTYLY_SYNDROME
CHUK	COCOON_SYNDROME
CIB2	CIB2-related_Usher_syndrome NONSYNDROMIC_DEAFNESS_DFNB48
CIC	CIC-related_neurodevelopmental_disorder
CISD2	WOLFRAM_SYNDROME_TYPE_2
CIT	PRIMARY_MICROCEPHALY
CKAP2L	FILIPPI_SYNDROME._SYNDACTYLY,_TYPE_I,_WITH_MICROCEPHALY_AND_INTELLECTUAL_DEVELOPMENTAL_DISORDER
CLCC1	Retinitis_pigmentosa
CLCN2	Leukoencephalopathy_with_ataxia
CLCN3	CLCN3-related_Neurodevelopmental_disorder_with_hypotonia_and_brain_abnormalities CLCN3-related_Neurodevelopmental_disorder_with_seizures_and_brain_abnormalities
CLCN4	INFANTILE_EPILEPTIC_ENCEPHALOPATHY_AND/OR_INTELLECTUAL_DISABILITY
CLCN6	CLCN6-related_Developmental_Disorder
CLCN7	CLCN7-RELATED_OSTEOPETROSIS
CLCNKA	BARTTER_SYNDROME_TYPE_4B
CLCNKB	BARTTER_SYNDROME_TYPE_4B
CLDN1	Ichthyosis,_leucocyte_vacuoles,_alopecia_and_sclerosing_cholangitis
CLDN19	HYPOMAGNESEMIA_5,_RENAL,_WITH_OCULAR_INVOLVEMENT
CLDN5	CLDN5-related_neurodevelopmental_disorder
CLIC2	INTELLECTUAL_DEVELOPMENTAL_DISORDER,_X-linked,_syndromic_32
CLMP	CONGENITAL_SHORT_BOWEL_SYNDROME
CLN3	CLN3-related_neuronal_ceroid_lipofuscinosis Retinal_dystrophy
CLN5	CEROID_LIPOFUSCINOSIS,_NEURONAL,_5
CLN6	CEROID_LIPOFUSCINOSIS,_NEURONAL,_6 CEROID_LIPOFUSCINOSIS,_NEURONAL,_KUFS_TYPE,_ADULT_ONSET
CLN8	CLN8-related_neuronal_ceroid_lipofuscinosis
CLP1	PONTOCEREBELLAR_HYPOPLASIA,_TYPE_10
CLPB	3-METHYLGLUTACONIC_ACIDURIA,_TYPE_VII,_WITH_CATARACTS,_NEUROLOGIC_INVOLVEMENT_AND_NEUTROPENIA
CLPP	PERRAULT_SYNDROME
CLRN1	Retinitis_pigmentosa_61 Usher_syndrome,_type_3A
CLTC	Epilepsy_and_intellectual_disability
CLUAP1	Ciliopathy_syndrome LEBER_CONGENITAL_AMAUROSIS
CNBP	Myotonic_dystrophy_2 Myotonic_dystrophy_type_2
CNGA1	Retinitis_pigmentosa_type_49
CNGA3	Achromatopsia_2 LEBER_CONGENITAL_AMAUROSIS
CNGB1	Retinitis_pigmentosa_45
CNGB3	Achromatopsia_3 Achromatopsia_3_(biallelic,_activating) Macular_degeneration,_juvenile
CNKSR1	AUTOSOMAL_RECESSIVE_INTELLECTUAL_DEVELOPMENTAL_DISORDER
CNKSR2	INTELLECTUAL_DISABILITY_WITH_EPILEPSY
CNNM2	CNNM2-related_neurodevelopmental_disorder_with_hypomagnesemia CNNM2-related_neurodevelopmental_disorder_with_hypomagnesemia;_autosomal_recessive_form
CNNM4	Jalili_syndrome
CNOT1	CNOT1-related_neurodevelopmental_disorder HOLOPROSENCEPHALY_12_WITH_OR_WITHOUT_PANCREATIC_AGENESIS
CNOT2	CNOT2-related_neurodevelopmental_disorder_with_hypotonia
CNOT3	CNOT3_syndrome
CNOT9	CNOT9-related_developmental_disorder_with_seizures
CNPY3	EARLY_ONSET_EPILEPTIC_ENCEPHALOPATHY
CNTNAP1	LETHAL_CONGENITAL_CONTRACTURE_SYNDROME_7
CNTNAP2	CORTICAL_DYSPLASIA-FOCAL_EPILEPSY_SYNDROME
COA5	MITOCHONDRIAL_COMPLEX_IV_DEFICIENCY
COA8	MITOCHONDRIAL_COMPLEX_IV_DEFICIENCY
COASY	NEURODEGENERATION_WITH_BRAIN_IRON_ACCUMULATION
COG1	COG1-CDG
COG4	COG4-CDG Saul_Wilson_Syndrome
COG5	COG5-CDG
COG7	COG7-CDG
COG8	COG8-CDG
COL10A1	SCHMID_TYPE_METAPHYSEAL_CHONDRODYSPLASIA
COL11A1	COL11A1-related_fibrochondrogenesis MARSHALL_SYNDROME STICKLER_SYNDROME,_TYPE_II
COL11A2	AUTOSOMAL_RECESSIVE_OTOSPONDYLOMEGAEPIPHYSEAL_DYSPLASIA DEAFNESS_AUTOSOMAL_DOMINANT_TYPE_13 DEAFNESS_AUTOSOMAL_RECESSIVE_TYPE_53 STICKLER_SYNDROME_TYPE_3
COL13A1	Congenital_Myasthenic_Syndrome_Type_19
COL17A1	Epidermolysis_Bullosa_Junctional_(atrophic_benign) Epithelial_recurrent_erosion_dystrophy
COL18A1	KNOBLOCH_SYNDROME_TYPE_I
COL1A1	CAFFEY_DISEASE COL1A1-RELATED_OSTEOGENESIS_IMPERFECTA COL1A1/2-RELATED_OSTEOGENESIS_IMPERFECTA Classical_Ehlers_Danlos_syndrome EHLERS-DANLOS_SYNDROME,_CLASSIC_TYPE,_COL1A1-RELATED EHLERS-DANLOS_SYNDROME_TYPE_VIIA OSTEOGENESIS_IMPERFECTA_TYPE_I OSTEOGENESIS_IMPERFECTA_TYPE_IIA OSTEOGENESIS_IMPERFECTA_TYPE_III
COL1A2	Ehlers_Danlos,_cardiac_valvular_form Osteogenesis_imperfecta_congenita_type_II Osteogenesis_imperfecta_type_IV
COL25A1	FIBROSIS_OF_EXTRAOCULAR_MUSCLES,_CONGENITAL,_5
COL27A1	Steel_Syndrome
COL2A1	ACHONDROGENESIS_TYPE_2 KNIEST_DYSPLASIA SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_STRUDWICK_TYPE SPONDYLOEPIPHYSEAL_DYSPLASIA_CONGENITA SPONDYLOEPIPHYSEAL_DYSPLASIA_CONGENITA_(biallelic,_all_missense/in_frame) SPONDYLOMETAEPIPHYSEAL_DYSPLASIA_CONGENITA,_STRUDWICK_TYPE STICKLER_SYNDROME,_TYPE_I,_NONSYNDROMIC_OCULAR STICKLER_SYNDROME_TYPE_1_NON-SYNDROMIC_OCULAR
COL3A1	EHLERS-DANLOS_SYNDROME_TYPE_4
COL4A1	Brain_small_vessel_disease_with_or_without_ocular_anomalies PORENCEPHALY_1
COL4A2	PORENCEPHALY_2
COL4A3	ALPORT_SYNDROME_AUTOSOMAL_DOMINANT ALPORT_SYNDROME_AUTOSOMAL_RECESSIVE
COL4A4	ALPORT_SYNDROME_AUTOSOMAL_RECESSIVE
COL4A5	Alport_syndrome_x-linked
COL5A1	COL5A1-related_classical_Ehlers_Danlos_syndrome
COL5A2	Classical_Ehlers_Danlos_syndrome
COL6A1	COL6A1_associated_myopathy
COL6A2	COL6A2-related_Ullrich_congenital_muscular_dystrophy_(biallelic) COL6A2-related_Ullrich_congenital_muscular_dystrophy_(monoallelic)
COL6A3	ULLRICH_CONGENITAL_MUSCULAR_DYSTROPHY_1
COL7A1	COL7A1-related_epidermolysis_bullosa_dystrophica Epidermolysis_Bullosa_(Bart_Type) Epidermolysis_Bullosa_Dystrophica_(dominant) Epidermolysis_Bullosa_Pruriginosa
COL8A2	Corneal_dystrophy,_Fuchs_endothelial,_1
COL9A1	COL9A1-related_Stickler_syndrome MULTIPLE_EPIPHYSEAL_DYSPLASIA_TYPE_6
COL9A2	MULTIPLE_EPIPHYSEAL_DYSPLASIA_TYPE_2 STICKLER_SYNDROME,_TYPE_V
COL9A3	MULTIPLE_EPIPHYSEAL_DYSPLASIA_TYPE_3 Stickler_syndrome
COLEC10	3MC
COLEC11	3MC_SYNDROME_2
COMP	MULTIPLE_EPIPHYSEAL_DYSPLASIA_TYPE_1
COPB1	COPB1-related_severe_intellectual_disability_syndrome_with_cataracts_and_variable_microcephaly
COPB2	COPB2-associated_developmental_delay_and_microcephaly COPB2-related_developmental_delay_and_osteopenia
COQ2	COENZYME_Q10_DEFICIENCY
COQ4	COENZYME_Q10_DEFICIENCY,_PRIMARY,_7
COQ5	AUTOSOMAL_RECESSIVE_INTELLECTUAL_DEVELOPMENTAL_DISORDER
COQ8A	COENZYME_Q10_DEFICIENCY
COQ9	COENZYME_Q10_DEFICIENCY
COX10	LEIGH_SYNDROME
COX14	MITOCHONDRIAL_COMPLEX_IV_DEFICIENCY
COX15	COX15-related_Leigh_Syndrome
COX16	COX16-related_Developmental_Disorder
COX6B1	MITOCHONDRIAL_COMPLEX_IV_DEFICIENCY
COX7B	MICROPHTHALMIA_WITH_LINEAR_SKIN_LESIONS
CPAMD8	Anterior_Segment_Dysgenesis
CPLANE1	CPLANE1-related_Joubert_syndrome Orofaciodigital_syndrome_VI
CPN1	Carboxypeptidase_N_deficiency
CPS1	CARBAMOYL_PHOSPHATE_SYNTHETASE_1_DEFICIENCY
CPSF3	CPSF3-associated_neurodevelopmental_disorder_with_seizures_and_microcephaly
CRADD	INTELLECTUAL_DEVELOPMENTAL_DISORDER,_autosomal_recessive_34,_with_variant_lissencephaly
CRB1	CRB1-related_Leber_Congenital_Amaurosis_and_Retinitis_Pigmentosa Macular_dystrophy PIGMENTED_PARAVENOUS_CHORIORETINAL_ATROPHY RETINITIS_PIGMENTOSA-12,_AUTOSOMAL_RECESSIVE
CRB2	Retinitis_pigmentosa VENTRICULOMEGALY_WITH_CYSTIC_KIDNEY_DISEASE
CRBN	INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_RECESSIVE_TYPE_2A
CREBBP	CREBBP-related_Rubinstein-Taybi_syndrome CREBBP_intellectual_disability_without_typical_RTS_features
CRELD1	CRELD1-related_neurodevelopmental_disorder_with_hypotonia_and_seizures HETEROTAXY_SYNDROME
CRIM1	Colobomatous_macrophthalmia_with_microcornea_syndrome
CRIPT	CRIPT-related_short_stature,_microcephaly,_poikiloderma_and_skeletal_abnormalities_(Rothmund_Thomson_like)
CRKL	Bladder_exstrophy_plus
CRLF1	Cold_induced_sweating_syndrome
CRLS1	CRLS1-related_mitochondrial_disorder_
CRPPA	WALKER_WARBURG_SYNDROME
CRX	CRX-RELATED_LEBER_CONGENITAL_AMAUROSIS_LEBER_CONGENITAL_AMAUROSIS_7 Macular_dystrophy
CRYAA	CATARACT,_AUTOSOMAL_RECESSIVE_CONGENITAL_1 CATARACT,_NUCLEAR CATARACT_9,_MULTIPLE_TYPES
CRYAB	CATARACT_POSTERIOR_POLAR_TYPE_2 CRYAB-related_Alpha-related_B_crystallinpathy Cataract_16,_multiple_types MYOPATHY,_MYOFIBRILLAR,_FATAL_INFANTILE_HYPERTONIC,_ALPHA-B_CRYSTALLIN-RELATED Myopathy,_myofibrillar,_2
CRYBA1	CATARACT_10,_MULTIPLE_TYPES CATARACT_CONGENITAL_ZONULAR_WITH_SUTURAL_OPACITIES
CRYBA2	Cataract_42
CRYBA4	CATARACT_23 MICROPHTHALMIA_ISOLATED_WITH_CATARACT_TYPE_4
CRYBB1	CATARACT_17,_MULTIPLE_TYPES CATARACT_17,_MULTIPLE_TYPES,_MONOALLELIC
CRYBB2	CATARACT,_CONGENITAL,_CERULEAN_TYPE,_2 CATARACT,_COPPOCK-LIKE CATARACT_3,_MULTIPLE_TYPES
CRYBB3	CATARACT,_CONGENITAL_NUCLEAR,_AUTOSOMAL_RECESSIVE_2 CATARACT_22,_MULTIPLE_TYPES CATARACT_22,_MULTIPLE_TYPES_(monoallelic,_uncertain)
CRYGB	Cataract_39,_multiple_types,_autosomal_dominant
CRYGC	CRYGC-related_congenital_cataract
CRYGD	CATARACT_4,_MULTIPLE_TYPES Cataract_2,_multiple_types
CRYGS	Cataract_20,_multiple_types
CSDE1	CSDE1-associated_intellectual_disability_and_autism
CSF1R	BRAIN_ABNORMALITIES,_NEURODEGENERATION,_AND_DYSOSTEOSCLEROSIS
CSNK1G1	EARLY_INFANTILE_EPILEPTIC_ENCEPHALOPATHY_AND_MICROCEPHALY
CSNK2A1	CSNK2A1_syndrome
CSNK2B	CSNK2B-related_developmental_disorder_(monoallelic)
CSPP1	CSPP1-related_Joubert_syndrome_with_or_without_Jeune_asphyxiating_thoracic_dystrophy
CSTA	EXFOLIATIVE_ICHTHYOSIS,_AUTOSOMAL_RECESSIVE,_ICHTHYOSIS_BULLOSA_OF_SIEMENS-LIKE
CSTB	UNVERRICHT-LUNDBORG_DISEASE
CTBP1	CTBP1-related_developmental_disorder_(monoallelic)
CTC1	CEREBRORETINAL_MICROANGIOPATHY_WITH_CALCIFICATIONS_AND_CYSTS Dyskeratosis_Congenita
CTCF	INTELLECTUAL_DISABILITY
CTDP1	CTDP1-related_congenital_cataracts,_dysmorphism_and_neuropathy
CTNNA1	Macular_dystrophy,_butterfly-shaped_pigmentary,_2
CTNNA2	Disordered_cortical_neuronal_migration
CTNNB1	Exudative_vitreoretinopathy INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AUTOSOMAL_DOMINANT_19
CTNND1	Blepharo-cheiro-dontic_syndrome
CTNND2	CTNND2-related_neurodevelopmental_disorder
CTNS	CTNS-related_nephropathic_cystinosis
CTR9	CTR9-related_neurodevelopmental_disorder Wilms_tumour
CTSA	GALACTOSIALIDOSIS
CTSC	Haim-Munk_syndrome
CTSD	CEROID_LIPOFUSCINOSIS,_NEURONAL,_10
CTSK	PYCNODYSOSTOSIS
CTU2	MICROCEPHALY,_FACIAL_DYSMORPHISM,_RENAL_AGENESIS,_AND_AMBIGUOUS_GENITALIA_SYNDROME
CUL3	CUL3-related_developmental_disorder_(monoallelic)
CUL4B	INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROMIC_X-LINKED_CABEZAS_TYPE
CUL7	3-M_SYNDROME_1
CUX1	GLOBAL_DEVELOPMENTAL_DELAY_WITH_OR_WITHOUT_IMPAIRED_INTELLECTUAL_DEVELOPMENT
CUX2	Developmental_epileptic_encephalopathy
CWC27	CWC27-related_retinitis_pigmentosa,_short_stature,_skeletal_anomalies_and_intellectual_disability_with_or_without_ectodermal_features
CWF19L1	CWF19L1-related_developmental_delay_with_epilepsy,_progressive_ataxia_and_cerebellar_atrophy
CXCR4	Warts,_hypogammaglobulinaemia,_infections_and_myelokathexis_syndrome
CYB5R3	METHEMOGLOBINEMIA_DUE_TO_DEFICIENCY_OF_METHEMOGLOBIN_REDUCTASE
CYBA	Chronic_granulomatous_disease_AR_cytochrome_b_negative
CYBB	Chronic_granulomatous_disease_X_linked
CYC1	MITOCHONDRIAL_COMPLEX_III_DEFICIENCY,_NUCLEAR_TYPE_6
CYFIP2	EPILEPTIC_ENCEPHALOPATHY,_EARLY_INFANTILE
CYLD	CYLINDROMATOSIS,_FAMILIAL
CYP1B1	PRIMARY_CONGENITAL_GLAUCOMA_TYPE_3A
CYP24A1	Hereditary_1,25-dihydroxyvitamin_D-resistant_rickets
CYP27A1	Cerebrotendinous_xanthomatosis
CYP2U1	HEREDITARY_SPASTIC_PARAPLEGIA
CYP4V2	Bietti_crystalline_corneoretinal_dystrophy
CYP51A1	Congenital_cataract
D2HGDH	D-2-HYDROXYGLUTARIC_ACIDURIA_1
DACT1	Multiple_malformations_of_neural_tube,_ear,_genitourinary_and_gastrointestinal_systems
DAG1	MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_LIMB-GIRDLE_TYPE_C7 Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_9
DARS1	HYPOMYELINATION_WITH_BRAIN_STEM_AND_SPINAL_CORD_INVOLVEMENT_AND_LEG_SPASTICITY.
DARS2	LEUKOENCEPHALOPATHY_WITH_BRAINSTEM_AND_SPINAL_CORD_INVOLVEMENT_AND_LACTATE_ELEVATION
DAW1	DAW1-associated_ciliopathy
DBT	MAPLE_SYRUP_URINE_DISEASE
DCAF17	WOODHOUSE-SAKATI_SYNDROME
DCC	Midline-bridging_neuronal_commissure_disruption,_horizontal_gaze_palsy,_scoliosis,_and_intellectual_disability
DCDC2	RENAL-HEPATIC_CILIOPATHY
DCHS1	PERIVENTRICULAR_NEURONAL_HETEROTOPIA
DCLRE1C	Omenn_syndrome
DCN	Corneal_dystrophy,_congenital_stromal
DCX	LISSENCEPHALY_X-LINKED_TYPE_1 SUBCORTICAL_BAND_HETEROTOPIA_X-LINKED
DDB1	DDB1-associated_neurodevelopmental_syndrome
DDB2	XERODERMA_PIGMENTOSUM,_GROUP_E,_DDB-NEGATIVE_SUBTYPE
DDC	AROMATIC_L-AMINO-ACID_DECARBOXYLASE_DEFICIENCY
DDHD1	HEREDITARY_SPASTIC_PARAPLEGIA
DDHD2	COMPLEX_HEREDITARY_SPASTIC_PARAPLEGIA
DDOST	CONGENITAL_DISORDER_OF_GLYCOSYLATION,_TYPE_IR
DDR2	SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_SHORT_LIMB-HAND_TYPE
DDX11	WARSAW_BREAKAGE_SYNDROME
DDX23	DDX23-related_developmental_disorder_(monoallelic)
DDX3X	INTELLECTUAL_DEVELOPMENTAL_DISORDER,_X-LINKED_102 INTELLECTUAL_DISABILITY
DDX41	Myeloproliferative/lymphoproliferative_neoplasms,_familial_(multiple_types),_susceptibility_to
DDX54	Intellectual_Disability_and_Central_Nervous_System_anomalies
DDX59	OROFACIODIGITAL_SYNDROME
DDX6	INTELLECTUAL_DISABILITY
DEAF1	Autism,_intellectual_disability,_basal_ganglia_dysfunction_and_epilepsy INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AUTOSOMAL_DOMINANT_24
DEGS1	LEUKODYSTROPHY,_HYPOMYELINATING,_18
DENND5A	EPILEPTIC_ENCEPHALOPATHY
DENND5B	DENND5B-related_neurodevelopmental_disorder_with_cortical_migration_and_white_matter_abnormalities
DEPDC5	FAMILIAL_FOCAL_EPILEPSY_WITH_VARIABLE_FOCI
DES	DES-related_DCM DES-related_Myofibrillar_myopathy
DGAT1	CONGENITAL_DIARRHEAL_DISORDERS
DHCR24	DESMOSTEROLOSIS
DHCR7	SMITH-LEMLI-OPITZ_SYNDROME
DHDDS	Epilepsy_and_intellectual_disability Retinitis_pigmentosa_59
DHFR	MEGALOBLASTIC_ANEMIA_DUE_TO_DIHYDROFOLATE_REDUCTASE_DEFICIENCY
DHODH	POSTAXIAL_ACROFACIAL_DYSOSTOSIS
DHPS	Neurodevelopmental_Disorder_of_Hypusination
DHRS3	DHRS3_related_craniosynostosis
DHTKD1	2-AMINOADIPIC_AND_2-OXOADIPIC_ACIDURIA
DHX16	Intellectual_Disability,_Central_Nervous_System_anomalies_and_Seizures
DHX30	Neurodevelopmental_Disorder
DHX32	Retinitis_pigmentosa
DHX34	INTELLECTUAL_DISABILITY
DHX37	Intellectual_Disability_and_Central_Nervous_System_anomalies
DHX38	Retinitis_pigmentosa
DHX9	DHX9-related_neurodevelopmental_disorder_and_Charcot-Marie-Tooth_disease
DICER1	DICER1_Tumor_Predisposition
DIP2B	INTELLECTUAL_DEVELOPMENTAL_DISORDER,_FRA12A_TYPE
DIS3L2	PERLMAN_SYNDROME
DISP1	HOLOPROSENCEPHALY
DKC1	DKC1-related_dyskeratosis_congenita
DLAT	PYRUVATE_DEHYDROGENASE_E2_DEFICIENCY
DLD	DIHYDROLIPOAMIDE_DEHYDROGENASE_(E3)_DEFICIENCY
DLG3	INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_90
DLG4	DLG4_related_intellectual_disability
DLG5	DLG5-associated_developmental_disorder_(biallelic) DLG5-associated_developmental_disorder_(monoallelic)
DLL1	INTELLECTUAL_DISABILITY
DLL3	SPONDYLOCOSTAL_DYSOSTOSIS_TYPE_1
DLL4	ADAMS-OLIVER_SYNDROME_6
DLX5	SPLIT_HAND_AND_FOOT_MALFORMATION
DMD	DUCHENNE_MUSCULAR_DYSTROPHY
DMP1	HYPOPHOSPHATEMIC_RICKETS,_AR
DMPK	DYSTROPHIA_MYOTONICA_TYPE_1
DNA2	DNA2-related_microcephalic_primordial_dwarfism_with_or_without_poikiloderma_and_cataracts
DNAAF11	PRIMARY_CILIARY_DYSKINESIA
DNAAF3	PRIMARY_CILIARY_DYSKINEASIA
DNAAF4	PRIMARY_CILIARY_DYSPLASIA
DNAAF5	CILIARY_DYSKINESIA,_PRIMARY,_18
DNAAF6	X-Linked_Primary_Ciliary_Dyskinesia_with_Outer_and_Inner_Dynein_Arm_Defects
DNAH14	DNAH14-related_Neurodevelopmental_disorder
DNAH5	CILIARY_DYSKINESIA,_PRIMARY,_3
DNAH9	Motile_Cilia_Defects_and_Situs_Inversus
DNAJB13	Primary_Ciliary_Dyskinesia_and_Male_Infertility
DNAJB4	DNAJB4-related_myopathy_with_early_respiratory_failure
DNAJC12	Hyperphenylalaninemia,_Dystonia,_and_Intellectual_Disability
DNAJC17	Retinitis_pigmentosa_and_hypogammaglobulinemia
DNM1	DNM1-associated_microcephaly,_developmental_and_epileptic_encephalopathy
DNM1L	DNM1L-related_developmental_disorder_(monoallelic) Optic_atrophy_5
DNMT3A	Microcephalic_primordial_dwarfism Tatton-Brown_Rahman_syndrome_(OVERGROWTH_SYNDROME_WITH_INTELLECTUAL_DISABILITY)
DNMT3B	IMMUNODEFICIENCY-CENTROMERIC_INSTABILITY-FACIAL_ANOMALIES_SYNDROME_1
DOCK6	ADAMS-OLIVER_SYNDROME_2
DOCK7	EPILEPTIC_ENCEPHALOPATHY,_EARLY_INFANTILE,_23
DOCK8	HYPERIMMUNOGLOBULIN_E_RECURRENT_INFECTION_SYNDROME_AUTOSOMAL_RECESSIVE Hyper-IgE_recurrent_infection_syndrome,_autosomal_recessive
DOHH	DOHH-related_neurodevelopmental_disorder
DOLK	CONGENITAL_DISORDERS_OF_GLYCOSYLATION
DOT1L	DOT1L-related_neurodevelopmental_disorder_with_intracranial_anomalies
DPAGT1	DPAGT1-CDG MYASTHENIC_SYNDROME,_CONGENITAL,_WITH_TUBULAR_AGGREGATES_2
DPF2	Coffin_Siris_like_disorder
DPH5	DPH5-related_neurodevelopmental_disorder
DPM1	CONGENITAL_DISORDERS_OF_GLYCOSYLATION
DPM3	CONGENITAL_DISORDER_OF_GLYCOSYLATION_TYPE_1O
DPYD	Dihydropyrimidine_dehydrogenase_deficiency
DPYSL5	DPYSL5-related_developmental_disorder_(monoallelic)
DRAM2	Cone-rod_dystrophy_21
DRC1	PRIMARY_CILARY_DYSKINESIA
DSC2	DSC2-related_ARVC
DSCAML1	Retinitis_pigmentosa
DSE	EHLERS-DANLOS_SYNDROME,_MUSCULOCONTRACTURAL_TYPE_2
DSG1	PPK_(striate) SEVERE_DERMATITIS,_MULTIPLE_ALLERGIES_AND_METABOLIC_WASTING
DSG2	DSG2-related_ARVC
DSG4	Hypotrichosis,_localised_autosomal_recessive
DSP	DSP-related_ARVC DSP-related_DCM DSP-related_developmental_disorder PPK_(striate) Skin_fragility,_Woolly_Hair
DSPP	DEAFNESS_AUTOSOMAL_DOMINANT_TYPE_39_WITH_DENTINOGENESIS_IMPERFECTA_1 DENTINOGENESIS_IMPERFECTA,_SHIELDS_TYPE_II
DST	Neuropathy,_hereditary_sensory_and_autonomic,_type_VI
DSTYK	Autosomal_Recessive_Complicated_Spastic_Paraparesis_SPG23 CONGENITAL_ANOMALIES_OF_KIDNEY_AND_URINARY_TRACT,_CAKUT1
DTHD1	Retinal_dystrophy
DTNBP1	DTNBP1-related_Hermansky-Pudlak_syndrome
DVL1	AUTOSOMAL-DOMINANT_ROBINOW_SYNDROME
DVL3	AUTOSOMAL-DOMINANT_ROBINOW_SYNDROME
DYM	DYGGVE-MELCHIOR-CLAUSEN_SYNDROME/SMITH-MCCORT_DYSPLASIA
DYNC1H1	SEVERE_ID_WITH_NEURONAL_MIGRATION_DISORDER SPINAL_MUSCULAR_ATROPHY,_LOWER_EXTREMITY-PREDOMINANT,_AD
DYNC1I2	NEURODEVELOPMENTAL_DISORDER_WITH_MICROCEPHALY_AND_STRUCTURAL_BRAIN_ANOMALIES
DYNC2H1	Short-rib_thoracic_dysplasia_3_with_or_without_polydactyly
DYNC2I1	SHORT-RIB_POLYDACTYLY
DYNC2I2	SEVERE_ASPHYXIATING_THORACIC_DYSPLASIA
DYNC2LI1	DYNC2LI1-related_short-rib_polydactyly
DYRK1A	INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_DOMINANT_TYPE_7
EBF3	Intellectual_Disability,_Ataxia,_and_Facial_Dysmorphism
EBP	CHONDRODYSPLASIA_PUNCTATA_2,_X-LINKED
ECEL1	DISTAL_ARTHROGRYPOSIS_TYPE_5D
ECHS1	MITOCHONDRIAL_SHORT-CHAIN_ENOYL-CoA_HYDRATASE_1_DEFICIENCY
ECM1	ECM1-related_lipoid_proteinosis
EDA	ECTODERMAL_DYSPLASIA_TYPE_1 TOOTH_AGENESIS_SELECTIVE_X-LINKED_TYPE_1
EDAR	EDAR-related_hypohidrotic_ectodermal_dysplasia
EDEM3	EDEM3-related_congenital_disorder_of_glycosylation
EDN1	AURICULOCONDYLAR_SYNDROME QUESTION_MARK_EARS,_ISOLATED
EDN3	Waardenburg_syndrome_type_IV Waardenburg_syndrome_type_IV_(biallelic,_loss_of_function)
EDNRA	MANDIBULOFACIAL_DYSOSTOSIS_WITH_ALOPECIA
EDNRB	ABCD_SYNDROME Waardenburg_syndrome_type_IV Waardenburg_syndrome_type_IV_(biallelic,_loss_of_function)
EED	Weaver-like_overgrowth_syndrome
EEF1A2	INFANTILE_EPILEPTIC_ENCEPHALOPATHY
EEF1B2	AUTOSOMAL_RECESSIVE_INTELLECTUAL_DEVELOPMENTAL_DISORDER
EEF2	EEF2-related_developmental_disorder_(monoallelic)
EFEMP1	Doyne_honeycomb_degeneration_of_retina
EFEMP2	CUTIS_LAXA,_AUTOSOMAL_RECESSIVE,_TYPE_IB
EFNB1	CRANIOFRONTONASAL_SYNDROME
EFTUD2	MANDIBULOFACIAL_DYSOSTOSIS_WITH_MICROCEPHALY
EGFR	Nonsmall_cell_lung_cancer,_susceptibility_to
EGR2	NEUROPATHY,_CONGENITAL_HYPOMYELINATING,_1
EHMT1	Kleefstra_syndrome
EIF2AK1	EIF2AK1-associated_Neurodevelopmental_Syndrome
EIF2AK2	EIF2AK2-associated_Developmental_Delay,_Leukoencephalopathy,_and_Neurologic_Decompensation
EIF2AK3	WOLCOTT-RALLISON_SYNDROME
EIF2B2	Leukoencephalopathy_with_vanishing_white_matter
EIF2B4	EIF2B4-RELATED_LEUKOENCEPHALOPATHY_WITH_VANISHING_WHITE_MATTER
EIF2B5	EIF2B5-RELATED_LEUKOENCEPHALOPATHY_WITH_VANISHING_WHITE_MATTER
EIF2S3	Syndromic_ID_with_severe_microcephaly
EIF3F	EIF3F_related_developmental_disorder
EIF4A2	Autosomal_dominant_EIF4A2-related_neurodevelopmental_disorder_with_hypotonia_and_epilepsy__ Autosomal_recessive_EIF4A2-related_neurodevelopmental_disorder_
EIF4A3	RICHIERI-COSTA-PEREIRA_SYNDROME
EIF5A	EIF5A-related_craniofacial-neurodevelopmental_disorder
ELAC2	INFANTILE_HYPERTROPHIC_CARDIOMYOPATHY,_LACTIC_ACIDOSIS,_AND_ISOLATED_COMPLEX_I_DEFICIENCY
ELANE	ELANE-Related_Neutropenia
ELFN1	ELFN1-related_intellectual_disability_and_epilepsy
ELMO2	Intraosseous_Vascular_Malformation
ELN	ELN-RELATED_CUTIS_LAXA
ELOVL4	ICHTHYOSIS,_SPASTIC_QUADRIPLEGIA,_AND_INTELLECTUAL_DEVELOPMENTAL_DISORDER Stargardt_disease_3
ELP1	Familial_Dysautonomia Neuropathy,_hereditary_sensory_and_autonomic,_type_III
ELP2	AUTOSOMAL_RECESSIVE_INTELLECTUAL_DEVELOPMENTAL_DISORDER
ELP4	Aniridia_2
EMC1	Cerebellar_atrophy,_visual_impairment,_and_psychomotor_retardation_(monoallelic,_dominant_negative) EMC1-related_global_developmental_delay,_hypotonia,_scoliosis,_and_cerebellar_atrophy Global_Developmental_Delay,_Hypotonia,_Scoliosis,_and_Cerebellar_Atrophy
EMC10	EMC10-related_neurodevelopmental_disorder
EMG1	Bowen-Conradi_syndrome
EMX2	FAMILIAL_SCHIZENCEPHALY,_EMX2-RELATED
ENG	Hereditary_haemorrhagic_telangiectasia
ENPP1	Generalized_Arterial_Calcification_of_Infancy_and_Hypophosphataemic_Rickets
ENTPD1	AUTOSOMAL_RECESSIVE_INTELLECTUAL_DEVELOPMENTAL_DISORDER
EOGT	ADAMS_OLIVER_SYNDROME
EOMES	POLYMICROGYRIA_AND_CORPUS_CALLOSUM_AGENESIS
EP300	RUBINSTEIN-TAYBI_SYNDROME_TYPE_2 Retinitis_pigmentosa
EPB41L1	INTELLECTUAL_DISABILITY
EPCAM	COLORECTAL_CANCER,_HEREDITARY_NONPOLYPOSIS,_TYPE_8 DIARRHEA_5,_WITH_TUFTING_ENTEROPATHY,_CONGENITAL
EPG5	EPG5-related_immunodeficiency,_cardiomyopathy,_cataract,_hypopigmentation,_and_absent_corpus_callosum
EPHA2	Cataract_6,_multiple_types
EPHB4	Capillary_malformation-arteriovenous_malformation_2
EPRS1	Hypomyelinating_Leukodystrophy
ERBB3	Hirschprung_disease_with_intestinal_pseudo-obstruction LETHAL_CONGENITAL_CONTRACTURE_SYNDROME_TYPE_2
ERCC1	CEREBROOCULOFACIOSKELETAL_SYNDROME_4
ERCC2	CEREBRO-OCULO-FACIO-SKELETAL_SYNDROME_TYPE_2 TRICHOTHIODYSTROPHY_PHOTOSENSITIVE XERODERMA_PIGMENTOSUM,_GROUP_D
ERCC3	ERCC3-related_xeroderma_pigmentosum,_group_B TRICHOTHIODYSTROPHY,_PHOTOSENSITIVE
ERCC4	FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_Q Xeroderma_pigmentosum_group_F
ERCC5	ERCC5-related_xeroderma_pigmentosum,_group_G
ERCC6	COCKAYNE_SYNDROME_TYPE_B
ERCC6L2	BONE_MARROW_FAILURE_SYNDROME_2
ERCC8	COCKAYNE_SYNDROME_TYPE_A
ERF	COMPLEX_CRANIOSYNOSTOSIS Chitayat_syndrome:_hyperphalangism,_characteristic_facies,_hallux_valgus_and_bronchomalacia
ERI1	ERI1-related_brachydactyly_and_mild_neurodevelopmental_delay ERI1-related_severe_growth_restriction_and_skeletal_dysplasia
ERLIN2	AUTOSOMAL_RECESSIVE_INTELLECTUAL_DEVELOPMENTAL_DISORDER
ERMARD	PERIVENTRICULAR_HETEROTOPIA
ESAM	ESAM-related_neurodevelopmental_disorder_with_intracranial_hemorrhage,_seizures,_and_spasticity
ESCO2	ROBERTS_SYNDROME
ESPN	USHER_SYNDROME
ETFA	GLUTARIC_ACIDURIA_TYPE_2A
ETFB	GLUTARIC_ACIDURIA_TYPE_2B
ETFDH	GLUTARIC_ACIDURIA_TYPE_2C
ETHE1	ETHYLMALONIC_ENCEPHALOPATHY
EVC	ACROFACIAL_DYSOSTOSIS_WEYERS_TYPE
EVC2	ACROFACIAL_DYSOSTOSIS_WEYERS_TYPE
EXOSC2	EXOSC2-associated_short_stature,_hearing_loss,_retinitis_pigmentosa,_and_distinctive_facies_syndrome
EXOSC3	PONTOCEREBELLAR_HYPOPLASIA_TYPE_1
EXOSC9	Cerebellar_Atrophy_with_Spinal_Motor_Neuronopathy
EXPH5	INHERITED_SKIN_FRAGILITY
EXT1	EXT1-related_multiple_exostoses Trichorhinopharangeal_syndrome_II_(Langer-Giedon)
EXT2	EXOSTOSES,_MULTIPLE,_TYPE_2
EXTL3	Neuro_immuno_skeletal_Dysplasia_Syndrome
EYA1	BRANCHIOOTORENAL_SYNDROME_TYPE_1
EYS	Retinitis_pigmentosa
EZH1	EZH1-related_neurodevelopmental_disorder
EZH2	WEAVER_SYNDROME_2
F12	Angioneurotic_oedema,_hereditary,_with_normal_C1_inhibitor_concentration_and_function
FA2H	Spastic_paraplegia_35,_autosomal_recessive
FAH	TYROSINEMIA_TYPE_1
FAM111A	KENNY-CAFFEY_SYNDROME
FAM149B1	Ciliopathy-related_syndromic_intellectual_disability
FAM161A	RETINITIS_PIGMENTOSA_28
FAM20A	AMELOGENESIS_IMPERFECTA_AND_GINGIVAL_FIBROMATOSIS_SYNDROME
FAM20C	RAINE_SYNDROME
FANCA	FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_A
FANCB	FANCB-related_Fanconi_anemia
FANCC	FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_C
FANCD2	FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_D2
FANCE	FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_E
FANCF	FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_F
FANCG	FANCG-related_Fanconi_anemia
FANCI	FANCI-related_Fanconi_anemia
FANCL	FANCONI_ANEMIA Fanconi_pancytopaenia_H
FANCM	FANCM-RELATED_FANCONI_ANEMIA
FAR1	SEVERE_INTELLECTUAL_DISABILITY,_EPILEPSY,_AND_CATARACTS
FARS2	Neurometabolic_disorder_due_to_FARS2_deficiency
FAS	Autoimmune_lymphoproliferative_syndrome Autoimmune_lymphoproliferative_syndrome_type_IA Autoimmune_lymphoproliferative_syndrome_type_IA_(biallelic,_dominant_negative) Autoimmune_lymphoproliferative_syndrome_type_IA_(mosaic,_dominant_negative)
FASN	AUTOSOMAL_RECESSIVE_INTELLECTUAL_DEVELOPMENTAL_DISORDER
FAT4	HENNEKAM_LYMPHANGIECTASIA-LYMPHEDEMA_SYNDROME_2 VAN_MALDERGEM_SYNDROME
FBLN1	SYNPOLYDACTYLY,_3/3-PRIME/4,_ASSOCIATED_WITH_METACARPAL_AND_METATARSAL_SYNOSTOSES
FBLN5	Cutis_laxa_autosomal_dominant_2 Cutis_laxa_type_I_autosomal_recessive
FBN1	FBN1-related_Marfan_syndrome FBN1-related_Weill-Marchesani_syndrome FBN1-related_isolated_ectopia_lentis
FBN2	CONGENITAL_CONTRACTURAL_ARACHNODACTYLY
FBP1	FRUCTOSE_1,6_BISPHOSPHATASE_DEFICIENCY
FBXL4	FATAL_ENCEPHALOPATHY,_LACTIC_ACIDOSIS,_AND_SEVERE_MTDNA_DEPLETION_IN_MUSCLE
FBXO11	Variable_Neurodevelopmental_Disorder
FBXO28	FBXO28-related_developmental_and_epileptic_encephalopathy_with_profound_intellectual_disability
FBXW11	SYNDROMIC_INTELLECTUAL_DISABILITY
FBXW4	SPLIT-HAND/FOOT_MALFORMATION_TYPE_3
FBXW7	FBXW7-related_developmental_disorder_(monoallelic)
FCSK	CONGENITAL_DISORDER_OF_GLYCOSYLATION
FDFT1	Defect_in_Cholesterol_Biosynthesis Retinitis_pigmentosa
FDXR	FDXR-related_optic_atrophy-ataxia-peripheral_neuropathy-global_developmental_delay_syndrome
FEM1C	FEM1C-related_developmental_disorder
FERMT1	Kindler_syndrome
FEZF1	HYPOGONADOTROPIC_HYPOGONADISM_WITH_OR_WITHOUT_ANOSMIA
FGD1	AARSKOG-SCOTT_SYNDROME
FGF10	FGF10-related_lacrimo-auriculo-dento-digital_(LADD)_syndrome
FGF12	EPILEPTIC_ENCEPHALOPATHY
FGF13	FGF13-related_neurodevelopmental_disorder_(X-linked_dominant) FGF13-related_neurodevelopmental_disorder_(hemizygous)
FGF14	FGF14-related_episodic_ataxia
FGF3	DEAFNESS_WITH_LABYRINTHINE_APLASIA,_MICROTIA_AND_MICRODONTIA
FGF9	MULTIPLE_SYNOSTOSES_SYNDROME_TYPE_3
FGFR1	Encephalocraniocutaneous_lipomatosis Hartsfield_syndrome Hypogonadotropic_hypogonadism_2_with_or_without_anosmia OSTEOGLOPHONIC_DYSPLASIA PFEIFFER_SYNDROME
FGFR2	ANTLEY-BIXLER_SYNDROME APERT_SYNDROME BEARE-STEVENSON_CUTIS_GYRATA_SYNDROME CROUZON_SYNDROME Cutis_gyrata_Beare_stevenson FGFR2-related_Pfeiffer_syndrome FGFR2-related_lacrimo-auriculo-dento-digital_syndrome JACKSON-WEISS_SYNDROME
FGFR3	ACHONDROPLASIA CAMPTODACTYLY_TALL_STATURE_AND_HEARING_LOSS_SYNDROME FGFR3-related_Crouzon_syndrome_with_acanthosis_nigricans FGFR3-related_lacrimo-auriculo-dento-digital_syndrome HYPOCHONDROPLASIA MUENKE_SYNDROME THANATOPHORIC_DYSPLASIA_TYPE_1 THANATOPHORIC_DYSPLASIA_TYPE_2
FH	FUMARASE_DEFICIENCY LEIOMYOMATOSIS_AND_RENAL_CELL_CANCER
FHL1	EMERY-DREIFUSS_MUSCULAR_DYSTROPHY_6,_X-LINKED FHL1-related_Emery-related_Dreifuss_MD
FIBP	FIBP-related_overgrowth_syndrome_with_developmental_delay_(Thauvin-Robinet-Faivre_syndrome)
FICD	FICD-related_infancy-onset_diabetes_and_neurodevelopmental_disorder
FIG4	CLEIDOCRANIAL_DYSPLASIA_WITH_MICROGNATHIA,_ABSENT_THUMBS,_AND_DISTAL_APHALANGIA_YUNIS-VARON_SYNDROME
FILIP1	FILIP1-related_arthrogryposis_multiplex_congenita_with_microcephaly
FKBP10	BRUCK_SYNDROME_TYPE_1
FKBP14	EHLERS-DANLOS_SYNDROME_WITH_PROGRESSIVE_KYPHOSCOLIOSIS,_MYOPATHY,_AND_HEARING_LOSS
FKBP15	Wiskott-Aldrich_syndrome
FKRP	FKRP-related_congenital_alpha-dystroglycanopathy_with_brain_and_eye_anomalies
FKTN	MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_CONGENITAL_WITH_BRAIN_AND_EYE_ANOMALIES_TYPE_A4 MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_LIMB-GIRDLE_TYPE_C4
FLAD1	Riboflavin-Responsive_and_Non-responsive_Multiple_Acyl-CoA_Dehydrogenase_and_Combined_Respiratory-Chain_Deficiency.
FLCN	BIRT-HOGG-DUBE_SYNDROME
FLG	ICHTHYOSIS_VULGARIS
FLNA	EPILEPTIC_ENCEPHALOPATHY FLNA-related_otopalatodigital_syndrome FRONTOMETAPHYSEAL_DYSPLASIA MELNICK-NEEDLES_SYNDROME PERIVENTRICULAR_NODULAR_HETEROTOPIA_TYPE_1 TERMINAL_OSSEOUS_DYSPLASIA X-LINKED_CONGENITAL_IDIOPATHIC_INTESTINAL_PSEUDOOBSTRUCTION
FLNB	ATELOSTEOGENESIS_TYPE_1 ATELOSTEOGENESIS_TYPE_3 AUTOSOMAL_DOMINANT_LARSEN_SYNDROME LARSEN_SYNDROME SPONDYLOCARPOTARSAL_SYNOSTOSIS_SYNDROME
FLNC	FLNC-related_DCM FLNC-related_Myofibrillar_myopathy
FLT4	CONGENITAL_HEART_DISEASE MILROY_DISEASE
FLVCR1	ATAXIA,_POSTERIOR_COLUMN,_WITH_RETINITIS_PIGMENTOSA
FLVCR2	PROLIFERATIVE_VASCULOPATHY_AND_HYDRAENCEPHALY-HYDROCEPHALY_SYNDROME
FMN2	NONSYNDROMIC_AUTOSOMAL-RECESSIVE_INTELLECTUAL_DISABILITY
FMR1	FRAGILE_X_SYNDROME FRAGILE_X_TREMOR/ATAXIA_SYNDROME PREMATURE_OVARIAN_FAILURE_SYNDROME_TYPE_1
FN1	Spondylometaphyseal_Dysplasia_with_Corner_Fractures
FNBP4	MAC_spectrum_with_limb_anomalies
FOLR1	NEURODEGENERATION_DUE_TO_CEREBRAL_FOLATE_TRANSPORT_DEFICIENCY
FOSL2	FOSL2-related_neurodevelopmental_disorder_with_scalp_and_enamel_defects
FOXC1	FOXC1-related_Axenfeld-Rieger_syndrome
FOXC2	LYMPHEDEMA-DISTICHIASIS_SYNDROME
FOXD3	Anterior_Segment_Dysgenesis
FOXE1	BAMFORTH-LAZARUS_SYNDROME
FOXE3	ANTERIOR_SEGMENT_MESENCHYMAL_DYSGENESIS CONGENITAL_PRIMARY_APHAKIA Congenital_cataract Congenital_cataract_(monoallelic,_uncertain)
FOXF1	ALVEOLAR_CAPILLARY_DYSPLASIA_WITH_MISALIGNMENT_OF_PULMONARY_VEINS
FOXG1	CONGENITAL_VARIANT_OF_RETT_SYNDROME
FOXI3	FOXI3-related_microtia_and_craniofacial_microsomia
FOXJ1	Motile_Ciliopathy_with_Hydrocephalus_and_Randomization_of_Left/Right_Body_Asymmetry
FOXL2	BLEPHAROPHIMOSIS,_PTOSIS,_AND_EPICANTHUS_INVERSUS_SYNDROME
FOXN1	ALOPECIA_AND_T-CELL_IMMUNODEFICIENCY
FOXP1	INTELLECTUAL_DEVELOPMENTAL_DISORDER_WITH_LANGUAGE_IMPAIRMENT_AND_AUTISTIC_FEATURES
FOXP2	SPEECH-LANGUAGE_DISORDER_1
FOXP3	IPEX_SYNDROME
FOXP4	FOXP4-related_Developmental_Disorder
FOXRED1	MITOCHONDRIAL_COMPLEX_I_DEFICIENCY
FRA10AC1	FRA10AC1-related_neurodevelopmental_disorder
FRAS1	FRASER_SYNDROME
FREM1	MANITOBA_OCULOTRICHOANAL_SYNDROME
FREM2	FRASER_SYNDROME
FRMD5	FRMD5-related_developmental_disorder_
FRMD7	NYSTAGMUS_1,_CONGENITAL,_X-LINKED
FRMPD4	Intellectual_Disability
FRRS1L	Epileptic_encephalopathy_with_continuous_spike-and-wave_during_sleep
FRY	AUTOSOMAL_RECESSIVE_INTELLECTUAL_DEVELOPMENTAL_DISORDER
FSCN2	Retinitis_pigmentosa_30
FTCD	GLUTAMATE_FORMIMINOTRANSFERASE_DEFICIENCY
FTL	HEREDITARY_HYPERFERRITINEMIA-CATARACT_SYNDROME
FTO	GROWTH_RETARDATION_DEVELOPMENTAL_DELAY_COARSE_FACIES_AND_EARLY_DEATH
FTSJ1	INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_44
FUCA1	FUCOSIDOSIS
FUT8	Congenital_Disorder_of_Glycosylation_with_Defective_Fucosylation
FXN	FXN-related_Friedreich_ataxia
FXR1	FXR1-related_congenital_myopathy
FYCO1	FYCO1-related_congenital_cataract
FZD4	EXUDATIVE_VITREORETINOPATHY_1
FZD5	Autosomal_Dominant_Coloboma
FZD6	NAIL_DISORDER_NON-SYNDROMIC_CONGENITAL_TYPE_10
FZR1	FZR1-related_intellectual_disability_and_epilepsy
G6PC1	Glycogen_storage_disease_I
GAA	GAA-related_Pompe_disease GLYCOGEN_STORAGE_DISEASE_TYPE_II
GABBR1	GABBR1-associated_neurodevelopmental_disorder
GABBR2	EPILEPTIC_ENCEPHALOPATHY
GABRA1	EPILEPTIC_ENCEPHALOPATHY JUVENILE_MYOCLONIC_EPILEPSY
GABRA2	GABRA2-related_epileptic_encephalopathy
GABRB2	Epilepsy_and_intellectual_disability
GABRB3	CHILDHOOD_ABSENCE_EPILEPSY_TYPE_5
GABRG1	GABRG1-associated_epileptic_encephalopathy
GABRG2	EPILEPSY,_GENERALIZED,_WITH_FEBRILE_SEIZURES_PLUS,_TYPE_3
GAD1	CEREBRAL_PALSY_SPASTIC_QUADRIPLEGIC_TYPE_1
GALC	KRABBE_DISEASE
GALE	EPIMERASE-DEFICIENCY_GALACTOSEMIA
GALK1	GALK1-related_galactokinase_deficiency_with_cataracts
GALNS	MUCOPOLYSACCHARIDOSIS_TYPE_4A
GALNT3	Calcinosis,_tumoral_with_hyperphosphataemia
GALT	GALACTOSEMIA
GAMT	GUANIDINOACETATE_METHYLTRANSFERASE_DEFICIENCY
GAN	Giant_axonal_neuropathy_1
GAS2L2	Impaired_Cilia_Orientation_and_Mucociliary_Clearance
GAS8	PRIMARY_CILIARY_DYSKINESIA
GATA2	EMBERGER_SYNDROME
GATA3	HYPOPARATHYROIDISM,_SENSORINEURAL_DEAFNESS,_AND_RENAL_DISEASE
GATA4	ATRIAL_SEPTAL_DEFECT_TYPE_2
GATA6	ATRIAL_SEPTAL_DEFECT_9 ATRIOVENTRICULAR_SEPTAL_DEFECT_5 PANCREATIC_AGENESIS,_DIAPHRAGMATIC_HERNIA_AND_CONGENITAL_HEART_DEFECTS
GATAD2B	NONSPECIFIC_SEVERE_ID
GATM	ARGININE:GLYCINE_AMIDINOTRANSFERASE_DEFICIENCY
GBA1	GAUCHER_DISEASE_PERINATAL_LETHAL
GBA2	AUTOSOMAL-RECESSIVE_CEREBELLAR_ATAXIA_WITH_SPASTICITY.
GBE1	GBE1-associated_Glycogen_storage_disease_IV
GCDH	GLUTARICACIDEMIA_TYPE_1
GCH1	DYSTONIA_TYPE_5 GTP_CYCLOHYDROLASE_1_DEFICIENCY
GCNT2	Cataract_13_with_adult_i_phenotype
GCSH	GLYCINE_ENCEPHALOPATHY
GDF1	CONGENITAL_HEART_DEFECTS,_MULTIPLE_TYPES,_6
GDF11	GDF11-related_vertebral_hypersegmentation,_orofacial_anomalies_and_neurodevelopmental_disorder.
GDF3	GDF3_multiple_malformations Microphthalmia,_isolated_7 Microphthalmia_with_coloboma_6
GDF5	ACROMESOMELIC_CHONDRODYSPLASIA_GREBE_TYPE GDF5-related_Symphalangism_Spectrum_Disorder
GDF6	GDF6_Oculo-Skeletal_Syndrome Microphthalmia
GDI1	INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_41
GEMIN4	NEURODEVELOPMENTAL_DISORDER_WITH_MICROCEPHALY,_CATARACTS,_AND_RENAL_ABNORMALITIES Syndromic_congenital_cataract
GEMIN5	GEMIN5-associated_neurodevelopmental_disorder_with_cerebellar_atrophy_and_motor_dysfunction
GFAP	ALEXANDER_DISEASE
GFER	MITOCHONDRIAL_PROGRESSIVE_MYOPATHY_WITH_CONGENITAL_CATARACT_HEARING_LOSS_AND_DEVELOPMENTAL_DELAY_(MPMCHD Myopathy,_mitochondrial_progressive,_with_congenital_cataract,_hearing_loss,_and_developmental_delay
GFM1	COMBINED_OXIDATIVE_PHOSPHORYLATION_DEFICIENCY_1
GGCX	PSEUDOXANTHOMA_ELASTICUM-LIKE_SKIN_MANIFESTATIONS_WITH_EYE_ANOMALIES
GHR	PITUITARY_DWARFISM_II
GIGYF1	GIGYF1-related_developmental_disorder_(monoallelic)
GJA1	GJA1-related_oculodentodigital_dysplasia HALLERMANN-STREIFF_SYNDROME HYPOPLASTIC_LEFT_HEART_SYNDROME
GJA3	CATARACT_14,_MULTIPLE_TYPES CATARACT_ZONULAR_PULVERULENT_CATARACT_TYPE_3
GJA8	CATARACT-MICROCORNEA_SYNDROME CATARACT_1,_MULTIPLE_TYPES Congenital_corneal_opacification,_sclerocornea
GJB2	DEAFNESS_AUTOSOMAL_RECESSIVE_TYPE_1A GJB2-related_Vohwinkel_syndrome GJB2-related_knuckle_pads,_leuconychia_and_sensorineural_deafness ICHTHYOSIS_HYSTRIX-LIKE_WITH_DEAFNESS_SYNDROME PALMOPLANTAR_KERATODERMA_WITH_DEAFNESS
GJB3	DEAFNESS,_AUTOSOMAL_RECESSIVE DEAFNESS_AUTOSOMAL_DOMINANT_TYPE_2B ERYTHROKERATODERMIA_VARIABILIS_ET_PROGRESSIVA
GJB6	DEAFNESS_AUTOSOMAL_RECESSIVE_TYPE_1B GJB6-related_ectodermal_dysplasia,_Clouston_type
GJC2	LEUKODYSTROPHY,_HYPOMYELINATING,_2 LYMPHEDEMA,_HEREDITARY,_IC
GK	GLYCEROL_KINASE_DEFICIENCY
GLA	Fabry_disease GLA-related_Fabry_disease
GLB1	GM1-GANGLIOSIDOSIS_TYPE_3
GLDC	GLDC-RELATED_GLYCINE_ENCEPHALOPATHY
GLDN	Lethal_arthroogryposis
GLE1	ARTHROGRYPOSIS,_LETHAL,_WITH_ANTERIOR_HORN_CELL_DISEASE
GLI2	GLI2-RELATED_HOLOPROSENCEPHALY
GLI3	GREIG_CEPHALOPOLYSYNDACTYLY_SYNDROME PALLISTER-HALL_SYNDROME
GLIS2	NEPHRONOPHTHISIS_7
GLIS3	DIABETES_MELLITUS_NEONATAL_WITH_CONGENITAL_HYPOTHYROIDISM
GLMN	GLOMUVENOUS_MALFORMATIONS
GLRA1	GLRA1-related_hyperexplexia,_biallelic GLRA1-related_hyperexplexia,_monoallelic
GLRB	GLRB-related_hyperexplexia,_biallelic GLRB-related_hyperexplexia,_monoallelic
GLUD1	HYPERINSULINISM-HYPERAMMONEMIA_SYNDROME
GLUL	CONGENITAL_SYSTEMIC_GLUTAMINE_DEFICIENCY
GM2A	GM2-GANGLIOSIDOSIS_TYPE_AB
GMNN	Autosomal-Dominant_Primordial_Dwarfism_Associated_with_Meier-Gorlin_Syndrome
GMPPA	GMPPA-related_alacrima,_achalasia_and_intellectual_disability
GMPPB	MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_(CONGENITAL_WITH_BRAIN_AND_EYE_ANOMALIES),_TYPE_A,_14
GNA11	Congenital_Hemangioma
GNA14	Congenital_vascular_tumours
GNAI1	GNAI1_syndrome
GNAI3	AURICULOCONDYLAR_SYNDROME
GNAO1	EPILEPTIC_ENCEPHALOPATHY
GNAQ	Congenital_Hemangioma Familial_Sturge-Weber_syndrome Sturge-Weber_syndrome
GNAS	ALBRIGHT_HEREDITARY_OSTEODYSTROPHY MCCUNE-ALBRIGHT_SYNDROME OSSEOUS_HETEROPLASIA,_PROGRESSIVE PSEUDOHYPOPARATHYROIDISM_TYPE_1B PSEUDOPSEUDOHYPOPARATHYROIDISM Pseudohypoparathyroidism_Ia Pseudohypoparathyroidism_Ic
GNAT1	Night_blindness,_congenital_stationary,_autosomal_dominant_3 Night_blindness,_congenital_stationary,_type_1G Rod-cone_dystrophy
GNAT2	Achromatopsia_4
GNB1	Severe_Neurodevelopmental_Disability,_Hypotonia,_and_Seizures
GNB2	GNB2-related_developmental_disorder_(monoallelic)
GNB3	GNB3_Autosomal-Recessive_Congenital_Stationary_Night_Blindness. Night_blindness,_congenital_stationary,_type_1H
GNB5	Sinus_Bradycardia_and_Cognitive_Disability
GNE	GNE-associated_congenital_myopathy GNE-associated_sialuria
GNPAT	GNPAT-related_rhizomelic_chondrodysplasia_punctata
GNPTAB	MUCOLIPIDOSIS_TYPE_III_COMPLEMENTATION_GROUP_A
GNPTG	MUCOLIPIDOSIS_TYPE_III_COMPLEMENTATION_GROUP_C
GNS	MUCOPOLYSACCHARIDOSIS_TYPE_3D
GOLGA2	GOLGA2-related_myopathy,_seizures_and_microcephaly
GON4L	AUTOSOMAL_RECESSIVE_INTELLECTUAL_DEVELOPMENTAL_DISORDER
GORAB	Geroderma_osteodysplasticum
GOT2	Malate-Aspartate_Shuttle-Related_Encephalopathy
GPAA1	Developmental_Delay,_Epilepsy,_Cerebellar_Atrophy,_and_Osteopenia
GPATCH3	Congenital_glaucoma
GPC3	SIMPSON-GOLABI-BEHMEL_SYNDROME,_TYPE_1
GPC4	KEIPERT_SYNDROME
GPC6	OMODYSPLASIA_TYPE_1_(OMOD1)
GPHN	GPHN-related_molybdenum_cofactor_deficiency
GPR143	Ocular_albinism
GPR179	Night_blindness,_congenital_stationary_(complete),_1E,_autosomal_recessive
GPR45	Cone-rod_dystrophy
GPSM2	GPSM2-related_sensorineural_hearing_loss_with_corpus_callosum_hypoplasia,_gray_matter_heterotopia_and_arachnoid_cysts
GPX4	SPONDYLOMETAPHYSEAL_DYSPLASIA,_SEDAGHATIAN_TYPE
GREB1L	Renal_hypodysplasia/aplasia_3
GREM1	HEREDITARY_MIXED_POLYPOSIS
GRHL2	ECTODERMAL_DYSPLASIA/SHORT_STATURE_SYNDROME Posterior_Polymorphous_Corneal_Dystrophy_4
GRHL3	VAN_DER_WOUDE_SYNDROME
GRIA1	GRIA1-related_neurodevelopmental_disorder
GRIA2	GRIA2-related_developmental_disorder_(monoallelic)
GRIA3	INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_94
GRIA4	NEURODEVELOPMENTAL_DISORDER_WITH_OR_WITHOUT_SEIZURES_AND_GAIT_ABNORMALITIES
GRID2	GRID2-related_cerebellar_ataxia,_biallelic GRID2-related_cerebellar_ataxia,_monoallelic
GRIK2	GRIK2-related_intellectual_disability_and_hypomyelination INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_RECESSIVE_TYPE_6
GRIN1	EPILEPTIC_ENCEPHALOPATHY GRIN1-associated_Neurodevelopmental_disorder_with_or_without_hyperkinetic_movements_and_seizures,_autosomal_recessive
GRIN2A	Autosomal_recessive_GRIN2A-related_neurodevelopmental_disorder EPILEPSY,_FOCAL,_WITH_SPEECH_DISORDER_AND_WITH_OR_WITHOUT_INTELLECTUAL_DEVELOPMENTAL_DISORDER
GRIN2B	EPILEPTIC_ENCEPHALOPATHY INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AUTOSOMAL_DOMINANT_6
GRIN2D	Severe_Epileptic_Encephalopathy_Treatable_with_NMDA_Receptor_Channel_Blockers
GRIP1	FRASER_SYNDROME
GRK1	Oguchi_disease-2
GRM1	CONGENITAL_CEREBELLAR_ATAXIA
GRM6	GRM6-related_congenital_stationary_night_blindness
GRM7	GRM7-related_neurodevelopmental_disorder
GRN	Ceroid_lipofuscinosis,_neuronal,_11
GSN	Amyloidosis,_Finnish_type
GSPT2	XL_INTELLECTUAL_DISABILITY
GTF2E2	DNA_Repair-Proficient_Trichothiodystrophy
GTF2H5	TRICHOTHIODYSTROPHY_PHOTOSENSITIVE
GTF2IRD1	GTF2IRD1-related_neurodevelopmental_disorder
GTPBP1	GTPBP1-related_neurodevelopmental_disorder_with_severe-profound_intellectual_disability,_spasticity_and_ectodermal_features.
GTPBP2	JABERI-ELAHI_SYNDROME
GTPBP3	MITOCHONDRIAL_TRANSLATION_DEFECT_ASSOCIATED_WITH_HYPERTROPHIC_CARDIOMYOPATHY,_LACTIC_ACIDOSIS,_AND_ENCEPHALOPATHY
GUCA1A	Cone-rod_dystrophy_14 Cone_dystrophy-3 Macular_dystrophy
GUCA1B	Retinal_dystrophy
GUCY2C	FAMILIAL_DIARRHEA_DIARRHEA_6 MECONIUM_ILEUS
GUCY2D	Central_areolar_choroidal_dystrophy Cone-rod_dystrophy Leber_congenital_amaurosis_1
GUSB	MUCOPOLYSACCHARIDOSIS_TYPE_7
GZF1	JOINT_LAXITY,_SHORT_STATURE,_AND_MYOPIA
H1-4	Rahman_syndrome
H2AC6	HIST1H2AC-related_developmental_disorder_(monoallelic)
H3-3A	Craniofacial_with_neurodevelopment_disorders H3F3A_associated_neurodevelopmental_disorder
H3-3B	H3F3B_associated_neurodevelopmental_disorder
H3-4	AUTOSOMAL_RECESSIVE_INTELLECTUAL_DEVELOPMENTAL_DISORDER
H4C11	Intellectual_disability_with_facial_dysmorphism
H4C2	AUTOSOMAL_RECESSIVE_INTELLECTUAL_DEVELOPMENTAL_DISORDER
H4C3	HIST1H4C
HAAO	NAD_deficiency_disorder
HACD1	HACD1-related_congenital_myopathy
HACE1	HACE1_related_disorder
HADH	3-HYDROXYACYL-COENZYME_A_DEHYDROGENASE_DEFICIENCY
HADHA	LONG_CHAIN_3-HYDROXYACYL-COA_DEHYDROGENASE_DEFICIENCY
HAMP	Haemochromatosis_type_2B_(juvenile)
HARS1	HARS1-related_Usher_syndrome
HAX1	NEUTROPENIA,_SEVERE_CONGENITAL_3,_AUTOSOMAL_RECESSIVE
HCCS	HCCS-related_linear_skin_defects_with_microphthalmia
HCFC1	COBALAMIN_DISORDER INTELLECTUAL_DEVELOPMENTAL_DISORDER,_X-LINKED_3
HCN1	EPILEPTIC_ENCEPHALOPATHY,_EARLY_INFANTILE,_24
HDAC4	BRACHYDACTYLY-INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROME HDAC4-related_intellectual_disability
HDAC8	CORNELIA_DE_LANGE-LIKE_SYNDROME_HDAC8_XLR Cornelia_de_Lange_Syndrome_HDAC8_X-linked_dominant
HECTD4	HECTD4-related_neurodevelopmental_disorder_with_seizures,_hypotonia,_spasticity,_and_agenesis_of_the_corpus_callosum
HECW2	HECW2-associated_neurodevelopmental_disorder HECW2-related_neurodevelopmental_disorder
HERC1	MACROCEPHALY,_DYSMORPHIC_FACIES,_AND_PSYCHOMOTOR_RETARDATION
HERC2	HERC2-related_neurodevelopmental_disorder
HESX1	HESX1-RELATED_COMBINED_PITUITARY_HORMONE_DEFICIENCY SEPTOOPTIC_DYSPLASIA
HEXA	GM2-GANGLIOSIDOSIS_TYPE_1
HEXB	GM2-GANGLIOSIDOSIS_TYPE_2
HFE	Haemochromatosis_type_1
HGSNAT	HGSNAT-related_mucopolysaccharidosis_type_IIIC Retinitis_pigmentosa_73
HIBCH	HIBCH_DEFICIENCY
HINT1	NEUROMYOTONIA_AND_AXONAL_NEUROPATHY,_AUTOSOMAL_RECESSIVE
HIRA	HIRA-related_neurodevelopmental_disorder
HIVEP2	HIVEP2_associated_syndromic_developmental_delay_with_intellectual_disability
HJV	Haemochromatosis_type_2A_(juvenile)
HK1	HK1-related_developmental_disorder_(monoallelic) Retinitis_pigmentosa
HKDC1	Retinitis_pigmentosa
HLCS	HOLOCARBOXYLASE_SYNTHETASE_DEFICIENCY
HMGB1	HMGB1-related_brachyphalangy,_polydactyly_and_tibial_aplasia_syndrome HMGB1-related_intellectual_disability
HMGB3	Colobomatous_microphthalmia,_microcephaly,_intellectual_disability,_and_short_stature
HMGCL	3-HYDROXY-3-METHYLGLUTARYL-COENZYME_A_LYASE_DEFICIENCY
HMGCR	HMGCR-related_limb-girdle_muscular_dystrophy
HMGCS2	3-HYDROXY-3-METHYLGLUTARYL-COA_SYNTHASE_2_DEFICIENCY
HMX1	OCULOAURICULAR_SYNDROME
HNF1B	RENAL_CYSTS_AND_DIABETES_SYNDROME
HNF4A	ATYPICAL_DOMINANT_FANCONI_SYNDROME_WITH_MODY HNF4A-RELATED_MATURITY-ONSET_DIABETES_OF_THE_YOUNG_TYPE_1
HNRNPA2B1	Early-onset_oculopharyngeal_muscular_dystrophy
HNRNPD	HNRNPD-related_developmental_disorder_(monoallelic)
HNRNPH1	HNRNPH1-related_neurodevelopmental_disorder
HNRNPH2	Neurodevelopmental_Disorder_in_Females
HNRNPK	Au-Kline_Syndrome
HNRNPR	INTELLECTUAL_DISABILITY
HNRNPU	EPILEPTIC_ENCEPHALOPATHY
HOXA1	BOSLEY-SALIH-ALORAINY_SYNDROME
HOXA11	Radioulnar_Synostosis_with_Amegakaryocytic_Thrombocytopenia
HOXA13	HAND-FOOT-GENITAL_SYNDROME
HOXB1	FACIAL_PARESIS,_HEREDITARY_CONGENITAL,_3
HOXC13	PURE_HAIR_AND_NAIL_ECTODERMAL_DYSPLASIA
HOXD13	BRACHYDACTYLY-SYNDACTYLY_SYNDROME
HPD	HAWKINSINURIA TYROSINEMIA_TYPE_3
HPDL	HPDL_Neurodegenerative_Disease
HPGD	CRANIOOSTEOARTHROPATHY
HPRT1	LESCH-NYHAN_SYNDROME
HPS1	HPS1-related_Hermansky-Pudlak_syndrome
HPS3	Hermansky-Pudlak_syndrome_3
HPS4	HPS4-related_Hermansky-Pudlak_syndrome
HPS5	HPS5-related_Hermansky-Pudlak_syndrome
HPS6	HPS6-related_Hermansky-Pudlak_syndrome
HPSE2	UROFACIAL_SYNDROME
HR	ALOPECIA_UNIVERSALIS ATRICHIA_WITH_PAPULAR_LESIONS
HRAS	CONGENITAL_MYOPATHY_WITH_EXCESS_OF_MUSCLE_SPINDLES COSTELLO_SYNDROME
HS2ST1	HS2ST1-related_Developmental_Disorder
HSD17B10	2-METHYL-3-HYDROXYBUTYRYL-COA_DEHYDROGENASE_DEFICIENCY INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROMIC_X-LINKED_TYPE_10
HSD17B4	D-BIFUNCTIONAL_PROTEIN_DEFICIENCY
HSD3B7	BILE_ACID_SYNTHESIS_DEFECT,_CONGENITAL,_1
HSF4	CATARACT_5,_MULTIPLE_TYPES CATARACT_5,_MULTIPLE_TYPES_(biallelic,_uncertain)
HSPD1	LEUKODYSTROPHY_HYPOMYELINATING_TYPE_4
HSPG2	DYSSEGMENTAL_DYSPLASIA_SILVERMAN-HANDMAKER_TYPE SCHWARTZ-JAMPEL_SYNDROME
HTRA2	Early-onset_mitochondrial_syndrome_associated_with_3-methylglutaconic_aciduria
HUWE1	INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROMIC_X-LINKED_TURNER_TYPE
HYAL1	MUCOPOLYSACCHARIDOSIS_TYPE_9
HYAL2	HYAL2-related_syndrome_with_cleft_lip_and_palate_and_congenital_cardiac_anomalies
HYCC1	HYCC-related_leukodystrophy,_hypomyelinating
HYDIN	CILIARY_DYSKINESIA,_PRIMARY,_5
HYLS1	HYDROLETHALUS_SYNDROME_TYPE_1
IARS1	Growth_Retardation_with_Prenatal_Onset,_Intellectual_Disability,_Muscular_Hypotonia,_and_Infantile_Hepatopathy
IARS2	CATARACTS,_GROWTH_HORMONE_DEFICIENCY,_SENSORY_NEUROPATHY,_SENSORINEURAL_HEARING_LOSS,_AND_SKELETAL_DYSPLASIA
IDH3A	Retinitis_pigmentosa
IDH3B	Retinitis_pigmentosa_46
IDS	MUCOPOLYSACCHARIDOSIS_TYPE_2
IDUA	MUCOPOLYSACCHARIDOSIS_TYPE_1S
IER3IP1	IER3IP1-related_microcephaly_with_simplified_gyral_pattern,_epilepsy,_and_neonatal_diabetes
IFIH1	AICARDI-GOUTIERES_SYNDROME_7 IFIH1-related_Singleton-Merten_syndrome
IFITM5	OSTEOGENESIS_IMPERFECTA_TYPE_V
IFT122	CRANIOECTODERMAL_DYSPLASIA
IFT140	IFT140-related_short-rib_thoracic_dysplasia_with_or_without_polydactyly
IFT172	IFT172-related_short-rib_thoracic_dysplasia_with_or_without_polydactyly
IFT27	Bardet-Biedl_syndrome_19
IFT43	CRANIOECTODERMAL_DYSPLASIA_TYPE_3 Non-syndromic_retinal_degeneration
IFT52	Short-rib_thoracic_dysplasia_16_with_or_without_polydactyly
IFT74	IFT74-associated_ciliopathy
IFT80	ASPHYXIATING_THORACIC_DYSTROPHY_2
IFT88	Non-syndromic_retinal_degeneration
IGBP1	AGENESIS_OF_THE_CORPUS_CALLOSUM_WITH_INTELLECTUAL_DEVELOPMENTAL_DISORDER-OCULAR_COLOBOMA-MICROGNATHIA
IGF1	INSULIN-LIKE_GROWTH_FACTOR_I_DEFICIENCY
IGF1R	INSULIN-LIKE_GROWTH_FACTOR_I,_RESISTANCE_TO INSULIN-LIKE_GROWTH_FACTOR_I,_RESISTANCE_TO,_biallelic
IGF2	BECKWITH-WIEDEMANN_SYNDROME CHROMOSOME_11P15.5-RELATED_RUSSELL-SILVER_SYNDROME
IGFBP7	RETINAL_ARTERIAL_MACROANEURYSM_WITH_SUPRAVALVULAR_PULMONIC_STENOSIS
IGHMBP2	SPINAL_MUSCULAR_ATROPHY_WITH_RESPIRATORY_DISTRESS_1
IGSF1	CENTRAL_HYPOTHYROIDISM_AND_TESTICULAR_ENLARGEMENT
IHH	ACROCAPITOFEMORAL_DYSPLASIA BRACHYDACTYLY,_TYPE_A1
IKBKG	IKBKG-related_ectodermal_dysplasia_and_immunodeficiency INCONTINENTIA_PIGMENTI
IKZF2	IKZF2-related_ICHAD_syndrome
IL11	CRANIOSYNOSTOSIS_AND_DENTAL_ANOMALIES
IL11RA	Autosomal_Recessive_Craniosynostosis
IL1RAPL1	INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_21
IL6	Kaposi_sarcoma
IMPDH1	Leber_cogenital_amaurosis_11 Retinitis_pigmentosa_10
IMPG1	Macular_dystrophy,_vitelliform,_4
IMPG2	Macular_dystrophy,_vitelliform,_5 Retinitis_pigmentosa_56
INPP4A	AUTOSOMAL_RECESSIVE_INTELLECTUAL_DEVELOPMENTAL_DISORDER
INPP5E	INPP5E-related_Joubert_syndrome INPP5E-related_intellectual_development_disorder,_truncal_obesity,_retinal_dystrophy,_and_micropenis
INPP5K	Muscular_dystrophy,_congenital,_with_cataracts_and_intellectual_disability
INPPL1	OPSISMODYSPLASIA
INSR	Acanthosis_Nigricans_and_insulin_resistance_syndrome Leprechaunism
INTS1	Developmental_delays,_cataracts,_and_craniofacial_anomalies INTS1-related_neurodevelopmental_disorder_with_cataracts,_hypotonia_and_gait_abnormality
INTS11	INTS11-related_neurodevelopmental_disorder_with_motor_and_language_delay,_ocular_defects,_and_brain_abnormalities
IPO13	Ocular_coloboma,_microphthalmia,_and_cataract
IPO8	IPO8-related_syndromic_thoracic_aortic_aneurysm
IQCB1	LEBER_CONGENITAL_AMAUROSIS
IQSEC1	Intellectual_Disability,_Developmental_Delay,_and_Short_Stature
IQSEC2	INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_1
IREB2	IREB2-related_neurodevelopmental_disorder
IRF2BPL	Neurological_Phenotypes
IRF6	POPLITEAL_PTERYGIUM_SYNDROME VAN_DER_WOUDE_SYNDROME
IRX5	HYPERTELORISM,_SEVERE,_WITH_MIDFACE_PROMINENCE,_MYOPIA,_INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AND_BONE_FRAGILITY
ITCH	AUTOIMMUNE_DISEASE,_SYNDROMIC_MULTISYSTEM
ITGA3	INTERSTITIAL_LUNG_DISEASE,_NEPHROTIC_SYNDROME,_AND_EPIDERMOLYSIS_BULLOSA,_CONGENITAL
ITGA6	EPIDERMOLYSIS_BULLOSA_WITH_PYLORIC_ATRESIA
ITGA7	CONGENITAL_MUSCULAR_DYSTROPHY
ITGA8	RENAL_HYPODYSPLASIA/APLASIA_1
ITGB4	Epidermolysis_Bullosa_Junctional Epidermolysis_Bullosa_Simplex_(Weber_Cockayne)
ITK	Lymphoproliferative_syndrome
ITM2B	Retinal_dystrophy_with_inner_retinal_dysfunction_and_ganglion_cell_abnormalities
ITPR1	Gillespie_Syndrome Gillespie_Syndrome,_monoallelic Gillespie_Syndrome_(biallelic,_loss_of_function) SPINOCEREBELLAR_ATAXIA_29,_CONGENITAL_NONPROGRESSIVE
IVD	ISOVALERIC_ACIDEMIA
JAG1	ALAGILLE_SYNDROME
JAG2	JAG2-related_muscular_dystrophy
JAGN1	SEVERE_CONGENITAL_NEUTROPENIA
JAK3	SEVERE_COMBINED_IMMUNE_DEFICIENCY,_AUTOSOMAL_RECESSIVE,_T_CELL-NEGATIVE,_B_CELL_-POSITIVE,_NK_CELL-NEGATIVE,_JAK3-RELATED
JAM3	HEMORRHAGIC_DESTRUCTION_OF_THE_BRAIN,_SUBEPENDYMAL_CALCIFICATION,_AND_CATARACTS
JARID2	JARID2-related_Neurodevelopmental_Disorder
JMJD1C	JMJD1C-related_neurodevelopmental_disorder
JUP	JUP-related_Naxos_disease PPK_Naxos_(+_woolly_hair_+_ECG_abnormalities,_NAXOS_disease)
KANK1	CEREBRAL_PALSY_SPASTIC_QUADRIPLEGIC_TYPE_2
KANSL1	CHROMOSOME_17Q21.31_MICRODELETION_SYNDROME
KARS1	DEAFNESS,_AUTOSOMAL_RECESSIVE_89 KARS1-related_leukoencephalopathy_with_or_without_deafness
KAT5	KAT5-related_Neurodevelopmental_Syndrome
KAT6A	INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AUTOSOMAL_DOMINANT_32
KAT6B	BBYSS_syndrome GENITOPATELLAR_SYNDROME SAY-BARBER-BIESECKER-YOUNG-SIMPSON_SYNDROME
KATNB1	KATNB1-_associated_COMPLEX_CEREBRAL_MALFORMATIONS
KBTBD13	NEMALINE_MYOPATHY_6
KCNA1	KCNA1-related_epileptic_encephalopathy,_biallelic KCNA1-related_epileptic_encephalopathy,_monoallelic
KCNA2	EPILEPTIC_ENCEPHALOPATHY_Gain-of-function EPILEPTIC_ENCEPHALOPATHY_Loss-of-function
KCNA4	KCNA4-related_abnormal_striatum,_congenital_cataract_and_intellectual_disability
KCNB1	EPILEPTIC_ENCEPHALOPATHY,_EARLY_INFANTILE,_26
KCNC1	EPILEPSY,_PROGRESSIVE_MYOCLONIC_7
KCNC3	SPINOCEREBELLAR_ATAXIA_TYPE_13
KCND2	KCND2-related_neurodevelopmental_disorder_with_or_without_seizures
KCND3	KCND3-related_developmental_disorder_(monoallelic)
KCNE1	JERVELL_AND_LANGE-NIELSEN_SYNDROME_TYPE_2 LONG_QT_SYNDROME-5
KCNH1	TEMPLE_BARRAISTER_SYNDROME
KCNH2	KCNH2-related_LQTS KCNH2-related_SQTS
KCNH5	KCNH5-related_epilepsy_and_epileptic_encephalopathy
KCNJ10	SEIZURES-SENSORINEURAL_DEAFNESS-ATAXIA-INTELLECTUAL_DEVELOPMENTAL_DISORDER-ELECTROLYTE_IMBALANCE
KCNJ11	DIABETES_MELLITUS,_KCNJ11-RELATED_TRANSIENT_NEONATAL FAMILIAL_HYPERINSULINISM
KCNJ13	Leber_congenital_amaurosis_16 Snowflake_vitreoretinal_degeneration
KCNJ2	KCNJ2-related_Andersen-related_Tawil_syndrome KCNJ2_relared_SQTS
KCNJ6	KEPPEN-LUBINSKY_SYNDROME
KCNJ8	Cantu_syndrome
KCNK3	KCNK3-associated_developmental_delay_with_sleep_apnea_
KCNK4	FHEIG_(facial_dysmorphism,_hypertrichosis,_epilepsy,_intellectual_disability/developmental_delay,_and_gingival_overgrowth) Facial_dysmorphism,_hypertrichosis,_epilepsy,_intellectual_disability/developmental_delay,_and_gingival_overgrowth
KCNK9	BIRK-BAREL_SYNDROME
KCNMA1	GENERALIZED_EPILEPSY_AND_PAROXYSMAL_DYSKINESIA KCNMA1-related_developmental_delay,_seizures_and_cerebellar_atrophy
KCNN2	KCNN2-related_neurodevelopmental_disorder_with_or_without_movement_disorder
KCNN3	ZIMMERMANN-LABAND_SYNDROME
KCNQ1	JERVELL_AND_LANGE-NIELSEN_SYNDROME_TYPE_1 KCNQ1-related_JLNS KCNQ1-related_LQTS KCNQ1-related_SQTS
KCNQ2	BENIGN_NEONATAL_EPILEPSY_TYPE_1 KCNQ2-related_epileptic_encephalopathy
KCNQ3	KCNQ3_syndrome
KCNQ5	Intellectual_Disability_with_or_without_Epileptic_Encephalopathy Intellectual_Disability_with_or_without_Epileptic_Encephalopathy,_activating
KCNT1	MALIGNANT_MIGRATING_PARTIAL_SEIZURES_OF_INFANCY SEVERE_AUTOSOMAL_DOMINANT_NOCTURNAL_FRONTAL_LOBE_EPILEPSY
KCNT2	Developmental_and_infantile_epileptic_encephalopathy
KCNV2	Cone_dystrophy_with_supernormal_rod_responses Retinal_cone_dystrophy_3B
KCTD1	SCALP-EAR-NIPPLE_SYNDROME
KCTD7	KCTD7-related_progressive_myoclonic_epilepsy
KDELR2	KDELR2-related_Osteogenesis_Imperfecta
KDM1A	Developmental_delay_and_distinctive_facial_features GIP-dependent_primary_bilateral_macronodular_adrenal_hyperplasia_with_Cushing's_syndrome
KDM2B	KDM2B-related_neurodevelopmental_disorder
KDM3B	DIETS-JONGMANS_SYNDROME
KDM4B	KDM4B-related_Developmental_Disorder
KDM5A	AUTOSOMAL_RECESSIVE_INTELLECTUAL_DEVELOPMENTAL_DISORDER
KDM5B	AUTISM Autism
KDM5C	INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROMIC_X-LINKED_JARID1C-RELATED
KDM6A	KABUKI_SYNDROME_2
KDM6B	AUTOSOMAL_RECESSIVE_INTELLECTUAL_DEVELOPMENTAL_DISORDER KDM6B-related_developmental_disorder_(monoallelic)
KERA	Cornea_plana
KIAA0586	JOUBERT_SYNDROME Joubert_syndrome_23
KIAA1549	Retinitis_pigmentosa
KIDINS220	KIDINS220-related_Developmental_Disorder,_biallelic Spastic_paraplegia,_intellectual_disability,_nystagmus,_and_obesity.
KIF11	AUTOSOMAL-DOMINANT_MICROCEPHALY_ASSOCIATED_WITH_LYMPHEDEMA_AND/OR_CHORIORETINOPATHY MICROCEPHALY_WITH_OR_WITHOUT_CHORIORETINOPATHY,_LYMPHEDEMA,_OR_INTELLECTUAL_DEVELOPMENTAL_DISORDER
KIF14	Severe_microcephaly_and_short_stature
KIF1A	NESCAV_SYNDROME NEUROPATHY,_HEREDITARY_SENSORY,_TYPE_IIC
KIF21A	Fibrosis_of_extraocular_muscles,_congenital,_1 Fibrosis_of_extraocular_muscles,_congenital,_3B
KIF22	SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_WITH_JOINT_LAXITY,_TYPE_2
KIF2A	MALFORMATIONS_OF_CORTICAL_DEVELOPMENT_AND_MICROCEPHALY.
KIF3B	KIF3B-related_ciliopathy
KIF4A	INTELLECTUAL_DISABILITY
KIF5A	KIF5A-associated_severe_neonatal_myoclonus
KIF5B	KIF5B-related_disease
KIF5C	CORTICAL_DYSPLASIA,_COMPLEX,_WITH_OTHER_BRAIN_MALFORMATIONS_2
KIF7	ACROCALLOSAL_SYNDROME AUTOSOMAL_RECESSIVE_INTELLECTUAL_DEVELOPMENTAL_DISORDER
KIFBP	GOLDBERG-SHPRINTZEN_MEGACOLON_SYNDROME
KIRREL3	INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_DOMINANT_TYPE_4
KIT	FAMILIAL_GIST FAMILIAL_GIST_(GASTRO-INTESTINAL_STROMAL_TUMOURS) HUMAN_PIEBALDISM Piebaldism
KITLG	WAARDENBURG_SYNDROME_TYPE_2
KIZ	Retinitis_pigmentosa_69
KLF1	ANEMIA,_DYSERYTHROPOIETIC_CONGENITAL,_TYPE_IV
KLF7	KLF7-related_developmental_disorder
KLF8	NONSYNDROMIC_INTELLECTUAL_DEVELOPMENTAL_DISORDER
KLHL15	INTELLECTUAL_DISABILITY
KLHL20	KLHL20-related_developmental_disorder_with_seizures
KLHL40	NEMALINE_MYOPATHY_8,_AUTOSOMAL_RECESSIVE
KLHL7	KLHL7-related_PERCHING_syndrome_(developmental_delay,_dysmorphism,_feeding_and_respiratory_difficulties,_hypotonia,_and_joint_contractures) Retinitis_pigmentosa_42
KMT2A	WIEDEMANN-STEINER_SYNDROME
KMT2B	Complex_early-onset_dystonia
KMT2C	INTELLECTUAL_DISABILITY
KMT2D	KABUKI_SYNDROME KMT2D_multiple_malformations_disorder
KMT2E	KMT2E-related_neurodevelopmental_disorder/O'Donnell-Luria-Rodan_syndrome
KMT5B	KMT5B_syndrome
KPNA7	Gomez-Lopez-Fernandes_syndrome
KPTN	MACROCEPHALY,_NEURODEVELOPMENTAL_DELAY,_AND_SEIZURES
KRAS	CARDIOFACIOCUTANEOUS_SYNDROME NOONAN_SYNDROME_TYPE_3
KRIT1	CEREBRAL_CAVERNOUS_MALFORMATIONS_TYPE_1 Cerebral_cavernous_malformation_1
KRT1	Ichthyosiform_erythroderma,_bullous Ichthyosis,_cyclic_with_epidermolytic_hyperkeratosis Ichthyosis_hystrix,_Curth-Macklin_type PPK_Vorner-Unna-Thost_(non-epidermolytic)
KRT10	Ichthyosiform_erythroderma,_bullous Ichthyosis,_cyclic_with_epidermolytic_hyperkeratosis
KRT12	Meesmann_corneal_dystrophy
KRT13	White_sponge_naevus
KRT14	Epidermolysis_Bullosa_Simplex_(recessive) Epidermolysis_Bullosa_Simplex_generalised_intermediate_(Köbner) Epidermolysis_Bullosa_Simplex_generalised_severe_(Dowling_-_Meara) Epidermolysis_Bullosa_Simplex_localised_(Weber_Cockayne) Naegeli_syndrome
KRT16	PPK_Vorner-Unna-Thost_(non-epidermolytic) Pachyonychia_congenita_1_Jadassohn-Lewandowsky
KRT17	Pachyonychia_congenita_2_Jackson-Lawler Steatocystoma_multiplex
KRT2	Ichthyosis_Bullosa_of_Siemens
KRT3	Meesmann_corneal_dystrophy
KRT4	White_sponge_naevus
KRT5	Dowling-Degos_disease Epidermolysis_Bullosa_Simplex_(Mottled_pigmentation) Epidermolysis_Bullosa_Simplex_generalised_intermediate_(Köbner) Epidermolysis_Bullosa_Simplex_generalised_severe_(Dowling_-_Meara) Epidermolysis_Bullosa_Simplex_localised_(Weber_Cockayne)
KRT6A	Pachyonychia_congenita_1_Jadassohn-Lewandowsky
KRT6B	Pachyonychia_congenita_2_Jackson-Lawler
KRT74	HYPOTRICHOSIS_SIMPLEX_OF_THE_SCALP_2
KRT81	Monilethrix
KRT83	Monilethrix
KRT85	Ectodermal_dysplasia,_pure_hair/nail_type
KRT86	Monilethrix
KRT9	PPK_Vorner-Unna-Thost_(epidermolytic)
L1CAM	HYDROCEPHALUS_DUE_TO_STENOSIS_OF_THE_AQUEDUCT_OF_SYLVIUS
L2HGDH	L-2-HYDROXYGLUTARIC_ACIDURIA
LAGE3	GALLOWAY-MOWAT_SYNDROME_2
LAMA1	CEREBELLAR_DYSPLASIA_WITH_CYSTS_WITH_OR_WITHOUT_RETINAL_DYSTROPHY Poretti-Boltshauser_syndrome
LAMA2	CONGENITAL_MUSCULAR_DYSTROPHY
LAMA3	Laryngoonychocutaneous_syndrome
LAMB1	COBBLESTONE_BRAIN_MALFORMATION_WITHOUT_MUSCULAR_OR_OCULAR_ABNORMALITIES
LAMB2	Nephrotic_syndrome,_type_5,_with_or_without_ocular_abnormalities Pierson_syndrome
LAMB3	Epidermolysis_Bullosa_Junctional_(lethal_Herlitz)
LAMC2	Epidermolysis_Bullosa_Junctional_(lethal_Herlitz)
LAMC3	OCCIPITAL_CORTICAL_MALFORMATIONS
LAMP2	DANON_DISEASE LAMP2-related_Danon_disease
LARGE1	MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_CONGENITAL_WITH_INTELLECTUAL_DEVELOPMENTAL_DISORDER_TYPE_B6
LARP7	ALAZAMI_SYNDROME
LARS2	PERRAULT_SYNDROME
LAS1L	INTELLECTUAL_DISABILITY
LBR	HYDROPS-ECTOPIC_CALCIFICATION-MOTH-EATEN_SKELETAL_DYSPLASIA
LCA5	Leber_congenital_amaurosis_5
LCAT	Fish-eye_disease
LDB3	MYOPATHY_MYOFIBRILLAR_TYPE_4
LDLR	Hypercholesterolaemia,_autosomal_dominant
LDLRAP1	Hypercholesterolaemia,_autosomal_recessive,_1
LEF1	LEF1-related_ectodermal_dysplasia_and_limb_malformation
LEFTY2	HETEROTAXY_SYNDROME
LEMD2	Cataract_46,_juvenile-onset Nuclear_Envelopathy_with_Early_Progeroid_Appearance
LEMD3	BUSCHKE-OLLENDORFF_SYNDROME
LETM1	LETM1-related_neurodevelopmental_disorder
LFNG	SPONDYLOCOSTAL_DYSOSTOSIS_TYPE_3
LGI4	ARTHROGRYPOSIS_MULTIPLEX_CONGENITA
LHX2	LHX2-related_neurodevelopmental_disorder_with_or_without_microcephaly_
LHX3	PITUITARY_HORMONE_DEFICIENCY_COMBINED_TYPE_3
LHX4	LHX4-RELATED_COMBINED_PITUITARY_HORMONE_DEFICIENCY
LIAS	Neonatal-onset_epilepsy,_defective_mitochondrial_energy_metabolism,_and_glycine_elevation
LIFR	Stuve-Wiedeman_syndrome
LIG4	LIG4_SYNDROME
LIM2	Cataract_19,_multiple_types
LINGO1	LINGO1_related_intellectual_disability_with_microcephaly,_speech_and_motor_delay
LINS1	AUTOSOMAL_RECESSIVE_INTELLECTUAL_DEVELOPMENTAL_DISORDER
LIPI	Hypertriglycidaemia,_familial
LIPN	ICHTHYOSIS,_LAMELLAR,_4
LIPT1	Leigh_syndrome_with_secondary_deficiency_for_pyruvate_and_alpha-ketoglutarate_dehydrogenase.
LIPT2	Mitochondrial_Lipoylation_Defect_Associated_with_Severe_Neonatal_Encephalopathy
LMBRD1	METHYLMALONIC_ACIDURIA_AND_HOMOCYSTINURIA_TYPE_CBLF
LMBRD2	LMBRD2-associated_intellectual_disability
LMNA	CHARCOT-MARIE-TOOTH_DISEASE_TYPE_2B1 EMERY-DREIFUSS_MUSCULAR_DYSTROPHY_TYPE_2 FAMILIAL_PARTIAL_LIPODYSTROPHY_TYPE_2 HEART-HAND_SYNDROME_SLOVENIAN_TYPE HUTCHINSON-GILFORD_PROGERIA_SYNDROME LETHAL_TIGHT_SKIN_CONTRACTURE_SYNDROME LMNA-related_DCM Lipodystrophy,_familial_partial_type_2 Restrictive_dermopathy,_lethal
LMNB1	LMNB1-associated_developmental_disorder
LMNB2	LMNB2-related_Primary_Microcephaly
LMOD2	LMOD2-related_infantile_dilated_cardiomyopathy
LMOD3	NEMALINE_MYOPATHY_10
LMX1B	NAIL-PATELLA_SYNDROME
LNPK	LNPK-associated_neurodevelopmental_disorder
LONP1	LONP1-associated_congenital_diaphragmatic_hernia LONP1-related_Codas_syndrome
LORICRIN	PPK_Vohwinkel+ichthyosis_(variant)
LOXHD1	DOMINANT_LATE-ONSET_FUCHS_CORNEAL_DYSTROPHY
LPL	Hyperlipoproteinaemia_type_1
LRAT	LEBER_CONGENITAL_AMAUROSIS Leber_congenital_amaurosis_14
LRBA	CHILDHOOD-ONSET_HYPOGAMMAGLOBULINEMIA
LRIG2	UROFACIAL_SYNDROME
LRIT3	AUTOSOMAL-RECESSIVE_COMPLETE_CONGENITAL_STATIONARY_NIGHT_BLINDNESS Night_blindness,_congenital_stationary_(complete),_1F,_autosomal_recessive
LRMDA	Albinism,_oculocutaneous,_type_VII
LRP2	DONNAI-BARROW_SYNDROME INTELLECTUAL_DISABILITY
LRP4	CENANI-LENZ_SYNDACTYLY_SYNDROME
LRP5	LRP5-related_exudative_vitreoretinopathy LRP5-related_osteopetrosis LRP5_-_OSTEOPOROSIS-PSEUDOGLIOMA_SYNDROME_on_a_spectrum_with_FEVR_with_osteopenia
LRP6	Tooth_Agenesis
LRPAP1	EXTREME_MYOPIA;MYOPIA_23,_AUTOSOMAL_RECESSIVE
LRPPRC	LEIGH_SYNDROME,_FRENCH-CANADIAN_TYPE
LRRC56	Mucociliary_Clearance_and_Laterality_Defects
LSM11	LSM11-related_Aicardi-Goutieres_syndrome
LSS	Cataract_44
LTBP1	LTBP1-related_cutis_laxa_and_craniosynostosis
LTBP2	MICROSPHEROPHAKIA MICROSPHEROPHAKIA_AND/OR_MEGALOCORNEA,_WITH_ECTOPIA_LENTIS_AND_WITH_OR_WITHOUT_SECONDARY_GLAUCOMA
LTBP3	PLATYSPONDYLY_WITH_AMELOGENESIS_IMPERFECTA
LYSET	TMEM251-related_skeletal_dysplasia
LYST	CHEDIAK-HIGASHI_SYNDROME
LZTFL1	Bardet-Biedl_syndrome_17
LZTR1	Breast_cancer,_susceptibility_to NOONAN_SYNDROME_10 Noonan_syndrome SCHWANNOMATOSIS
MAB21L1	Cerebello-Oculo-Facio-Genital_syndrome
MAB21L2	MICROPHTHALMIA,_SYNDROMIC_14 MICROPHTHALMIA,_SYNDROMIC_14_(monoallelic,_activating)
MACF1	Defects_in_Neuronal_Migration_and_Axon_Guidance
MADD	MADD-related_developmental_disorder
MAF	Ayme-Gripp_syndrome CATARACT_21,_MULTIPLE_TYPES
MAFB	Duane_Syndrome,_Aberrant_Extraocular_Muscle_Innervation,_and_Inner-Ear_Defects Duane_retraction_syndrome_3 Duane_retraction_syndrome_3_(monoallelic,_dominant_negative) Focal_Segmental_Glomerulosclerosis_with_Duane_Retraction_Syndrome MULTICENTRIC_CARPOTARSAL_OSTEOLYSIS_SYNDROME
MAGEL2	Schaaf-Yang_syndrome
MAGI2	EARLY_ONSET_EPILEPTIC_ENCEPHALOPATHY
MAGT1	INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_95
MAK	Retinitis_pigmentosa_62
MAMLD1	X-LINKED_HYPOSPADIAS_TYPE_2
MAN1B1	AUTOSOMAL_RECESSIVE_INTELLECTUAL_DEVELOPMENTAL_DISORDER
MAN2A2	MAN2A2-related_disorder_of_glycosylation
MAN2B1	LYSOSOMAL_ALPHA-MANNOSIDOSIS Mannosidosis,_alpha-,_types_I_and_II
MAN2C1	MAN2C1-associated_neurodevelopmental_disorder_with_cerebral_malformations
MANBA	LYSOSOMAL_BETA-MANNOSIDOSIS
MAOA	BRUNNER_SYNDROME
MAP2K1	CARDIOFACIOCUTANEOUS_SYNDROME
MAP2K2	CARDIOFACIOCUTANEOUS_SYNDROME
MAP3K1	46XY_SEX_REVERSAL_6 Breast_cancer,_susceptibility_to
MAP3K7	FRONTOMETAPHYSEAL_DYSPLASIA
MAP4K4	MAP4K4-related_neurodevelopmental_disorder_with/without_congenital_anomalies
MAPK1	MAPK1-related_Neurodevelopmental_Disorder
MAPK10	EPILEPTIC_ENCEPHALOPATHY_LENNOX-GASTAUT_TYPE
MAPK8IP3	Intellectual_Disability_with_Variable_Brain_Anomalies
MAPKAPK3	Macular_dystrophy,_patterned,_3
MAPKAPK5	MAPKAPK5-associated_syndrome_with_synpolydactyly
MAPRE2	Circumferential_Skin_Creases_Kunze_Type
MARK3	Visual_impairment_and_progressive_phthisis_bulbi
MASP1	3MC_SYNDROME_1
MAST1	MAST1-related_developmental_disorder_(monoallelic)
MAST3	MAST3-related_developmental_and_epileptic_encephalopathy
MAT1A	METHIONINE_ADENOSYLTRANSFERASE_DEFICIENCY
MATN3	MULTIPLE_EPIPHYSEAL_DYSPLASIA_TYPE_5
MAU2	MAU2_neurodevelopmental_disorder
MAX	PHEOCHROMOCYTOMA,_SUSCEPTIBILITY_TO
MBD4	MBD4_multi-tumour_predisposition_syndrome
MBD5	EHMT1-LIKE_INTELLECTUAL_DISABILITY
MBOAT7	Intellectual_Disability_Accompanied_by_Epilepsy_and_Autistic_Features
MBTPS2	Keratosis_follicularis_spinulosa_decalvans
MC2R	GLUCOCORTICOID_DEFICIENCY_1
MCCC1	3-METHYLCROTONYL-COA_CARBOXYLASE_DEFICIENCY
MCCC2	3-METHYLCROTONYL-COA_CARBOXYLASE_2_DEFICIENCY
MCEE	METHYLMALONYL-COA_EPIMERASE_DEFICIENCY
MCOLN1	MUCOLIPIDOSIS_IV
MCPH1	MICROCEPHALY_PRIMARY_TYPE_1
MDH2	Early-Onset_Severe_Encephalopathy
MECOM	Radioulnar_Synostosis_with_Amegakaryocytic_Thrombocytopenia
MECP2	CHROMOSOME_XQ28_DUPLICATION_SYNDROME ENCEPHALOPATHY_NEONATAL_SEVERE_DUE_TO_MECP2_MUTATIONS INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROMIC_X-LINKED_LUBS_TYPE RETT_SYNDROME_(RTT)
MECR	Childhood-Onset_Dystonia_and_Optic_Atrophy
MED11	MED11-associated_neurodevelopmental_disorder
MED12	LUJAN-FRYNS_SYNDROME MED12-related_developmental_disorder OPITZ-KAVEGGIA_SYNDROME
MED13	MED13_-_Neurodevelopment_disorder
MED13L	INTELLECTUAL_DISABILITY
MED17	MICROCEPHALY,_POSTNATAL_PROGRESSIVE,_WITH_SEIZURES_AND_BRAIN_ATROPHY
MED23	INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_RECESSIVE_TYPE_18
MED25	Basel-Vanagaite-Smirin-Yosef_Syndrome
MED27	MED27-related_neurodevelopmental_disorder
MEF2C	INTELLECTUAL_DEVELOPMENTAL_DISORDER-STEREOTYPIC_MOVEMENTS-EPILEPSY_AND/OR_CEREBRAL_MALFORMATIONS
MEFV	Familial_mediterranean_fever
MEGF10	MYOPATHY,_EARLY-ONSET,_AREFLEXIA,_RESPIRATORY_DISTRESS,_AND_DYSPHAGIA
MEGF8	CARPENTER_SYNDROME
MEIS2	MEIS2-related_developmental_disorder_(monoallelic)
MEN1	MULTIPLE_ENDOCRINE_NEOPLASIA_1
MEOX1	KLIPPEL-FEIL_ANOMALY
MERTK	Retinitis_pigmentosa_38
MESD	OSTEOGENESIS_IMPERFECTA
MESP2	SPONDYLOCOSTAL_DYSOSTOSIS_TYPE_2
MET	RENAL_CELL_CARCINOMA,_PAPILLARY,_1
METTL23	METTL23-related_Intellectual_Disability
METTL5	Autosomal-Recessive_Intellectual_Disability_and_Microcephaly
MFF	ENCEPHALOPATHY_DUE_TO_DEFECTIVE_MITOCHONDRIAL_AND_PEROXISOMAL_FISSION_2
MFN2	Charcot-Marie-Tooth_disease,_axonal,_type_2A2B Hereditary_motor_and_sensory_neuropathy_VIA MFN2-related_developmental_disorder
MFRP	MICROPHTHALMIA_ISOLATED_TYPE_5 NANOPHTHALMOS_2 Non-syndromic_retinitis_pigmenta
MFSD2A	MICROCEPHALY_15,_PRIMARY,_AUTOSOMAL_RECESSIVE
MFSD6L	Congenital_cataract
MFSD8	Ceroid_lipofuscinosis,_neuronal,_7 MFSD8-RELATED_NEURONAL_CEROID-LIPOFUSCINOSIS
MGAT2	CONGENITAL_DISORDER_OF_GLYCOSYLATION_TYPE_2A
MGP	KEUTEL_SYNDROME
MIB1	MIB1-related_developmental_disorder_(monoallelic)
MICU1	MYOPATHY_WITH_EXTRAPYRAMIDAL_SIGNS
MID1	OPITZ_G/BBB_SYNDROME,_X-LINKED
MIP	Cataract_15,_multiple_types
MIR17HG	FEINGOLD_SYNDROME
MIR184	KERATOCONUS_WITH_CATARACT;_EDICT_SYNDROME
MIR204	Retinal_dystrophy_and_iris_coloboma_with_or_without_cataract
MITF	COMMAD_syndrome Coloboma,_Osteopetrosis,_Microphthalmia,_Macrocephaly,_Albinism,_and_Deafness Coloboma,_Osteopetrosis,_Microphthalmia,_Macrocephaly,_Albinism,_and_Deafness_(COMMAD) Melanoma,_cutaneous_malignant TIETZ_SYNDROME WAARDENBURG_SYNDROME_TYPE_2A WAARDENBURG_SYNDROME_TYPE_2_WITH_OCULAR_ALBINISM
MKKS	MCKUSICK-KAUFMAN_SYNDROME
MKS1	BARDET-BIEDL_SYNDROME_TYPE_13
MLC1	LEUKOENCEPHALOPATHY_MEGALENCEPHALIC_WITH_SUBCORTICAL_CYSTS
MLH1	CONSTITUTIONAL_MISMATCH_REPAIR_DEFICIENCY_SYNDROME CONSTITUTIONAL_MISMATCH_REPAIR_DEFICIENCY_SYNDROME_(CCMRD) Lynch_syndrome MUIR-TORRE_SYNDROME
MLPH	Griscelli_Type_3
MLYCD	MALONYL-COA_DECARBOXYLASE_DEFICIENCY
MMAA	METHYLMALONIC_ACIDURIA_TYPE_CBLA
MMAB	METHYLMALONIC_ACIDURIA_TYPE_CBLB
MMACHC	METHYLMALONIC_ACIDURIA_AND_HOMOCYSTINURIA,_CBLC_TYPE
MMADHC	METHYLMALONIC_ACIDURIA_AND_HOMOCYSTINURIA_TYPE_CBLD
MMGT1	MMGT1-related_developmental_disorder
MMP13	METAPHYSEAL_ANADYSPLASIA_TYPE_1 SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_MISSOURI_TYPE
MMP14	WINCHESTER_SYNDROME
MMP15	MMP15-related_developmental_disorder
MMP2	WINCHESTER_SYNDROME
MMP21	MMP21-associated_heterotaxy
MMUT	METHYLMALONIC_ACIDURIA_TYPE_MUT
MN1	MN1_C-terminal_truncation_syndrome_
MNX1	CURRARINO_SYNDROME
MOCS1	MOLYBDENUM_COFACTOR_DEFICIENCY
MOCS2	MOLYBDENUM_COFACTOR_DEFICIENCY Molybdenum_cofactor_deficiency_B
MOGS	CONGENITAL_DISORDERS_OF_GLYCOSYLATION
MORC2	MORC2_-_axonal_neuropathy_and_neurodevelopmental_disorder
MPC2	MPC2-related_metabolic_disorder
MPDU1	CONGENITAL_DISORDERS_OF_GLYCOSYLATION
MPDZ	HYDROCEPHALUS,_NONSYNDROMIC,_AUTOSOMAL_RECESSIVE_2
MPI	CONGENITAL_DISORDERS_OF_GLYCOSYLATION
MPLKIP	TRICHOTHIODYSTROPHY_NON-PHOTOSENSITIVE_TYPE_1 Trichothiodystrophy,_non_photosensitive
MPV17	MITOCHONDRIAL_DNA_DEPLETION_SYNDROME_6
MPZ	NEUROPATHY,_CONGENITAL_HYPOMYELINATING,_2
MRAP	Glucocorticoid_deficiency_2
MRAS	NOONAN_SYNDROME_11
MRE11	ATAXIA_TELANGIECTASIA-LIKE_DISORDER
MRPS2	Sensorineural_Hearing_Loss_Hypoglycemia_and_Multiple_OXPHOS_Complex_Deficiencies
MRPS22	COMBINED_OXIDATIVE_PHOSPHORYLATION_DEFICIENCY_5
MRPS34	Leigh_Syndrome_with_Instability_of_the_Small_Mitoribosomal_Subunit
MRTFB	MRTFB-related_neurodevelopmental_disorder
MSH2	CONSTITUTIONAL_MISMATCH_REPAIR_DEFICIENCY_SYNDROME CONSTITUTIONAL_MISMATCH_REPAIR_DEFICIENCY_SYNDROME_(CCMRD) Lynch_syndrome MUIR-TORRE_SYNDROME
MSH6	CONSTITUTIONAL_MISMATCH_REPAIR_DEFICIENCY_SYNDROME Lynch_syndrome
MSI1	MSI1-associated_Microcephaly
MSL2	MSL2-related_developmental_disorder_(monoallelic)
MSL3	MSL3_syndrome
MSX1	CLEFT_LIP_+/-_CLEFT_PALATE
MSX2	CRANIOSYNOSTOSIS,_TYPE_2 ENLARGED_PARIETAL_FORAMINA/CRANIUM_BIFIDUM
MT-ATP6	Neuropathy,_Ataxia,_Retinitis_Pigmentosa_syndrome_
MT-ND1	LEBER_HEREDITARY_OPTIC_NEUROPATHY
MT-ND4	LEBER_HEREDITARY_OPTIC_NEUROPATHY
MT-ND5	LEBER_HEREDITARY_OPTIC_NEUROPATHY
MT-ND6	LEBER_HEREDITARY_OPTIC_NEUROPATHY
MT-TL1	MT-TL1-associated_mitochondrial_disorder
MT-TP	MERRF
MTAP	Diaphyseal_medullary_stenosis_with_malignant_fibrous_histiocytoma
MTF1	INTELLECTUAL_DISABILITY
MTFMT	MTFMT-related_mitochondrial_disease_with_regression_and_lactic_acidosis
MTHFR	METHYLENETETRAHYDROFOLATE_REDUCTASE_DEFICIENCY
MTM1	MYOTUBULAR_MYOPATHY,_X-LINKED
MTO1	INFANTILE_HYPERTROPHIC_CARDIOMYOPATHY_AND_LACTIC_ACIDOSIS
MTOR	Smith-Kingsmore_syndrome
MTR	METHYLCOBALAMIN_DEFICIENCY_TYPE_G
MTRFR	COMBINED_OXIDATIVE_PHOSPHORYLATION_DEFICIENCY_7
MTRR	HOMOCYSTINURIA-MEGALOBLASTIC_ANEMIA,_CBL_E_TYPE
MTSS2	MTSS2-associated_syndromic_intellectual_disability
MTTP	ABETALIPOPROTEINEMIA
MUTYH	ADENOMAS,_MULTIPLE_COLORECTAL
MVK	Hyper-IgD_syndrome Hyper_IgD_syndrome Mevalonic_aciduria
MYBPC1	LETHAL_CONGENITAL_CONTRACTURE_SYNDROME_4 MYBPC1-related_arthrogryposis_and_myopathy
MYBPC3	MYBPC3-related_HCM
MYCBP2	MYCBP2-related_developmental_delay_with_corpus_callosum_defects
MYCN	FEINGOLD_SYNDROME_TYPE_1
MYF5	External_Ophthalmoplegia,_Rib,_and_Vertebral_Anomalies
MYH10	MYH10-related_Multiple_congenital_anomalies
MYH11	Megacystis-microcolon-intestinal_hypoperistalsis_syndrome
MYH3	DISTAL_ARTHROGRYPOSIS_TYPE_2A Recessive_Spondylocarpotarsal_Synostosis_Syndrome
MYH6	ATRIAL_SEPTAL_DEFECT_TYPE_3
MYH7	MYH7-related_DCM MYH7-related_HCM
MYH8	CARNEY_COMPLEX_VARIANT MYH8-related_Trismus-pseudocamptodactyly_syndrome
MYH9	EPSTEIN_SYNDROME MACROTHROMBOCYTOPENIA_AND_GRANULOCYTE_INCLUSIONS_WITH_OR_WITHOUT_NEPHRITIS_OR_SENSORINEURAL_HEARING_LOSS
MYL1	MYOPATHY,_CONGENITAL,_WITH_FAST-TWITCH_(TYPE_II)_FIBER_ATROPHY
MYL11	MYLPF_arthrogryposis_(biallelic) MYLPF_arthrogryposis_(monoallelic)
MYL2	MYL2-related_HCM
MYL3	MYL3-related_HCM
MYLK	Megacystis_Microcolon_Intestinal_Hypoperistalsis_Syndrome
MYO18B	KLIPPEL-FEIL_SYNDROME_4,_AUTOSOMAL_RECESSIVE,_WITH_NEMALINE_MYOPATHY_AND_FACIAL_DYSMORPHISM
MYO5A	GRISCELLI_SYNDROME_TYPE_3
MYO5B	MICROVILLUS_INCLUSION_DISEASE
MYO6	MYO6-related_nonsyndromic_genetic_hearing_loss
MYO7A	DEAFNESS_AUTOSOMAL_RECESSIVE_TYPE_2 USHER_SYNDROME_TYPE_1B
MYOC	Glaucoma_1A,_primary_open_angle Juvenile_open_angle_glaucoma PRIMARY_CONGENITAL_GLAUCOMA_TYPE_3A
MYOCD	Congenital_megabladder
MYPN	Childhood-Onset,_Slowly_Progressive_Nemaline_Myopathy
MYRF	High_hyperopia_ Pulmonary_artery_and_lung_hypoplasia,_agonadism,_omphalocele,_diaphragmatic_defects,_hypoplastic_left_heart_and_scimitar_syndrome
MYSM1	MYSM1-related_congenital_bone_marrow_failure
MYT1	OAVS/Goldenhar_syndrome
MYT1L	MYT1L_syndrome
NAA10	Microphthalmia,_syndromic_1 NONPECIFIC_SEVERE_ID OGDEN_SYNDROME X-linked_anophthalmia_syndrome
NAA15	CONGENITAL_HEART_DISEASE_and_NEURODEVELOPMENTAL_DISORDER
NAA20	NAA20-associated_developmental_delay_and_microcephaly
NACC1	Infantile_Epilepsy,_Cataracts,_and_Profound_Developmental_Delay
NADK2	Dienoyl-CoA_reductase_deficiency_with_hyperlysinemia
NADSYN1	NADSYN1-related_Congenital_NAD_Deficiency_Disorder
NAE1	NAE1-associated_neurodevelopmental_disorder_with_intellectual_disability,_ischiopubic_hypoplasia,_stress-mediated_lymphopenia_and_neurodegeneration
NAGA	KANZAKI_DISEASE
NAGLU	MUCOPOLYSACCHARIDOSIS_TYPE_3B
NAGS	N-ACETYLGLUTAMATE_SYNTHASE_DEFICIENCY
NALCN	CONGENITAL_CONTRACTURES_OF_THE_LIMBS_AND_FACE,_HYPOTONIA,_AND_DEVELOPMENTAL_DELAY HYPOTONIA,_INFANTILE,_WITH_PSYCHOMOTOR_RETARDATION_AND_CHARACTERISTIC_FACIES NALCN-related_temporal_lobe_epilepsy
NANS	infantile-onset_severe_developmental_delay_and_skeletal_dysplasia
NAPB	NAPB-related_Neurodevelopmental_Disorder
NARS1	NARS1-related_Neurodevelopmental_Disorder NARS1-related_Neurodevelopmental_Disorder_
NARS2	NARS2-associated_oxidative_phosphorylation_deficiency
NAXD	Neurodegenerative_disorder_exacerbated_by_febrile_illnesses
NAXE	Lethal_Neurometabolic_Disorder_of_Early_Childhood
NBAS	ACUTE_LIVER_FAILURE_(ALF)_IN_INFANCY_AND_CHILDHOOD;_SHORT_STATURE,_OPTIC_NERVE_ATROPHY,_AND_PELGER-HUET_ANOMALY Short_stature,_optic_nerve_atrophy,_and_Pelger-Huet_anomaly
NBEA	NBEA_Neurodevelopment_disorder_with_seizures
NBN	NIJMEGEN_BREAKAGE_SYNDROME
NCAPD2	Microcephaly_with_short_stature
NCAPD3	Microcephaly_with_short_stature
NCAPG2	Severe_Neurodevelopmental_Syndrome_
NCAPH	microcephaly
NCDN	NCDN-associated_neurodevelopmental_disorder_with_seizures_(biallelic) NCDN-associated_neurodevelopmental_disorder_with_seizures_(monoallelic)
NCF1	Chronic_granulomatous_disease_AR_cytochrome_b_positive_type_I
NCF2	Chronic_granulomatous_disease_AR_cytochrome_b_positive_type_II
NCKAP1	NCKAP1-related_Neurodevelopmental_Disorder
NCOR1	NCOR1-related_developmental_disorder
NDE1	LISSENCEPHALY_4
NDNF	NDNF-related_Congenital_Hypogonadotrophic_Hypogonadism
NDP	EXUDATIVE_VITREORETINOPATHY_2,_X-LINKED NORRIE_DISEASE
NDRG4	ACHROMATOPSIA
NDST1	NDST1-related_intellectual_disability_with_or_without_seizures
NDUFA1	MITOCHONDRIAL_RESPIRATORY_CHAIN_COMPLEX_I_DEFICIENCY
NDUFA10	LEIGH_SYNDROME_DUP
NDUFA12	NDUFA12-associated_mtochondrial_complex_I_deficiency
NDUFA6	Early_Onset_Isolated_Mitochondrial_Complex_I_Deficiency
NDUFA8	NDUFA8-related_developmental_disorder
NDUFA9	LEIGH_SYNDROME
NDUFAF2	LEIGH_SYNDROME
NDUFAF8	NDUFAF8-related_Leigh_Syndrome
NDUFB11	MICROPHTHALMIA_WITH_LINEAR_SKIN_DEFECTS_SYNDROME
NDUFB3	NDUFB3-associated_mitochondrial_complex_I_deficiency
NDUFB7	NDUFB7-associated_lactic_acidosis_and_hypertrophic_cardiomyopathy
NDUFB8	MITOCHONDRIAL_COMPLEX_I_DEFICIENCY
NDUFS1	LEIGH_SYNDROME MITOCHONDRIAL_RESPIRATORY_CHAIN_COMPLEX_I_DEFICIENCY
NDUFS2	MITOCHONDRIAL_COMPLEX_I_DEFICIENCY Non-syndromic_hereditary_optic_neuropathy
NDUFS4	LEIGH_SYNDROME
NDUFS7	MITOCHONDRIAL_RESPIRATORY_CHAIN_COMPLEX_I_DEFICIENCY
NDUFS8	MITOCHONDRIAL_RESPIRATORY_CHAIN_COMPLEX_I_DEFICIENCY
NDUFV1	MITOCHONDRIAL_COMPLEX_I_DEFICIENCY
NDUFV2	Mitochondrial_complex_I_deficiency,_nuclear_type_7
NEB	AUTOSOMAL_RECESSIVE_TYPICAL_NEMALINE_MYOPATHY
NECTIN1	CLEFT_LIP/PALATE-ECTODERMAL_DYSPLASIA_SYNDROME Ectodermal_dysplasia,_cleft_lip/palate
NECTIN4	ECTODERMAL_DYSPLASIA-SYNDACTYLY_SYNDROME_1
NEDD4L	Periventricular_nodular_heterotopia_with_ID,_cleft_palate_and_2.3_toe_syndactyly
NEK1	SHORT-RIB_THORACIC_DYSPLASIA_6_WITH_OR_WITHOUT_POLYDACTYLY SHORT_RIB-POLYDACTYLY_SYNDROME,_TYPE_II
NEK2	Retinitis_pigmentosa_67
NEK8	NEPHRONOPHTHISIS_9 RENAL-HEPATIC-PANCREATIC_DYSPLASIA_2
NEU1	SIALIDOSIS
NEXMIF	NEXMIF-related_Intellectual_disability_and_epilepsy_(XLD) NEXMIF-related_Intellectual_disability_and_epilepsy_(XLR)
NF1	NEUROFIBROMATOSIS,_TYPE_1 NEUROFIBROMATOSIS_TYPE_1
NF2	NEUROFIBROMATOSIS,_TYPE_2 SCHWANNOMATOSIS
NFE2L2	NFE2L2-related_leukoencephalopathy,_immune_deficiency_and_hypohomocysteinaemia
NFIA	Macrocephaly_with_intellectual_disability
NFIB	MACROCEPHALY,_ACQUIRED,_WITH_IMPAIRED_INTELLECTUAL_DEVELOPMENT
NFIX	MARSHALL-SMITH_SYNDROME
NFU1	MULTIPLE_MITOCHONDRIAL_DYSFUNCTIONS_SYNDROME_1
NGLY1	CONGENITAL_DISORDER_OF_DEGLYCOSYLATION
NHLRC2	NHLRC2-related_fibrosis,_neurodegeneration,_and_cerebral_angiomatosis
NHP2	DYSKERATOSIS_CONGENITA,_AUTOSOMAL_RECESSIVE_2 Dyskeratosis_congenita,_autosomal_recessive
NHS	NANCE-HORAN_SYNDROME
NIPAL4	Ichthyosis,_congenital,_autosomal_recessive
NIPBL	CORNELIA_DE_LANGE_SYNDROME_TYPE_1
NKAP	Marfanoid_Habitus_and_Cognitive_Impairment
NKX2-1	CHOREOATHETOSIS,_HYPOTHYROIDISM,_AND_NEONATAL_RESPIRATORY_DISTRESS
NKX2-5	ATRIAL_SEPTAL_DEFECT_WITH_ATRIOVENTRICULAR_CONDUCTION_DEFECTS CONGENITAL_HYPOTHYROIDISM_NON-GOITROUS_TYPE_5 TETRALOGY_OF_FALLOT
NKX3-2	SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL_DYSPLASIA
NKX6-2	Progressive_Spastic_Ataxia_and_Hypomyelination
NLGN3	AUTISM_SPECTRUM_DISORDERS
NLGN4X	NLGN4X-related_autism_and_intellectual_disability
NLRP1	Autoinflammation_with_arthritis_and_dyskeratosis Corneal_intraepithelial_dyskeratosis
NLRP2	Nijmegan_breakage_syndrome
NLRP3	Chronic_neurologic_cutaneous_and_articular_syndrome_(CINCA) Cold_urticaria,_familial Familial_cold_autoinflammatory_syndrome
NMNAT1	LEBER_CONGENITAL_AMAUROSIS
NOD2	NOD2-related_granulomatous_synovitis_with_uveitis
NODAL	HETEROTAXY_SYNDROME
NOG	NOG-related-symphalangism_spectrum_disorder_
NONO	SYNDROMIC_INTELLECTUAL_DISABILITY
NOP10	DYSKERATOSIS_CONGENITA,_AUTOSOMAL_RECESSIVE_1 Dyskeratosis_congenita,_autosomal_recessive
NOTCH1	LEFT_VENTRICULAR_OUTFLOW_TRACT_OBSTRUCTION
NOTCH2	ALAGILLE_SYNDROME_2 HAJDU-CHENEY_SYNDROME
NOTCH3	Cerebral_autosomal_dominant_arteiopathy_with_subcortical_infarcts_and_leukencephalopathy INFANTILE_MYOFIBROMATOSIS
NOVA2	NOVA2-associated_neurodevelopmental_disorder
NPAT	NPAT-related_cancer
NPC1	NIEMANN-PICK_DISEASE,_TYPE_C1
NPC2	NIEMANN-PICK_DISEASE,_TYPE_C2
NPHP1	JOUBERT_SYNDROME_TYPE_4 NEPHRONOPHTHISIS_TYPE_1
NPHP3	NEPHRONOPHTHISIS_TYPE_3 Senior-Loken_syndrome
NPHP4	NEPHRONOPHTHISIS_TYPE_4 SENIOR-LOKEN_SYNDROME_4
NPHS1	NEPHROTIC_SYNDROME_TYPE_1
NPHS2	NEPHROTIC_SYNDROME,_TYPE_2
NPM1	Dyskeratosis_Congenita
NPR2	ACROMESOMELIC_DYSPLASIA_MAROTEAUX_TYPE
NPR3	Enhanced_Growth_and_Connective_Tissue_Abnormalities
NR0B1	Adrenal_hypoplasia,_congenital
NR1I3	EHMT1-LIKE_INTELLECTUAL_DISABILITY
NR2E3	Enhanced_S-cone_syndrome Retinitis_pigmentosa_37
NR2F1	BOSCH-BOONSTRA_OPTIC_ATROPHY_SYNDROME
NR2F2	CONGENITAL_HEART_DEFECTS_and_XX_sex_reversal
NR4A2	NR4A2-related_developmental_disorder_(monoallelic)
NRAS	NOONAN_SYNDROME_TYPE_6
NRCAM	NRCAM_neurodevelopmental_disorder_with_dysmorphic_features,_hypotonia_and_spasticity
NRL	Retinal_degeneration,_autosomal_recessive,_clumped_pigment_type Retinitis_pigmentosa_27
NRROS	NRROS-related_Infantile-Onset_Neurodegeneration_with_Intracranial_Calcification
NRXN1	AUTISM PITT_HOPKINS_2
NRXN2	AUTISM
NRXN3	AUTISM
NSD1	BECKWITH-WIEDEMANN_SYNDROME SOTOS_SYNDROME
NSD2	NSD2-related_developmental_disorder_(monoallelic)
NSDHL	CK_SYNDROME CONGENITAL_HEMIDYSPLASIA_WITH_ICHTHYOSIFORM_ERYTHRODERMA_AND_LIMB_DEFECTS
NSMCE3	DISTINCT_DNA_BREAKAGE_SYNDROME
NSRP1	NSRP1-associated_developmental_delay,_epilepsy_and_microcephaly
NSUN2	AUTOSOMAL-_RECESSIVE_INTELLECTUAL_DISABILITY_MRT5
NT5C3A	HEMOLYTIC_ANEMIA_DUE_TO_UMPH1_DEFICIENCY
NTHL1	ADENOMATOUS_POLYPOSIS,_CRC,__BREAST_CANCER_AND_OTHER_TUMOURS
NTNG2	Developmental_delay,_hypotonia,_and_autistic_features
NTRK1	CONGENITAL_INSENSITIVITY_TO_PAIN_WITH_ANHIDROSIS
NTRK2	Epilepsy_and_intellectual_disability
NUBPL	MITOCHONDRIAL_COMPLEX_I_DEFICIENCY
NUDT2	NUDT2-related_Developmental_Disorder
NUP107	GALLOWAY-MOWAT_SYNDROME_7
NUP133	GALLOWAY-MOWAT_SYNDROME_8
NUP214	Acute_Febrile_Encephalopathy
NUP54	NUP54-related_early-onset_dystonia_with_striatal_lesions
NUP62	INFANTILE_STRIATONIGRAL_DEGENERATION
NUS1	Epilepsy_and_intellectual_disability
NYX	NIGHT_BLINDNESS,_CONGENITAL_STATIONARY,_TYPE_1A Night_blindness,_congenital_stationary_(complete),_1A,_X-linked
OAT	Gyrate_atrophy_of_choroid_and_retina_with_or_without_ornithinemia
OBSL1	3-M_SYNDROME_2
OCA2	Albinism_(oculo-cutaneous_type_2) Oculocutaneous_albinism
OCLN	OCLN-associated_Band-like_Calcification_with_Simplified_Gyration_and_Polymicrogyria
OCRL	DENT_DISEASE_TYPE_2 LOWE_OCULOCEREBRORENAL_SYNDROME
ODAD1	PRIMARY_CILIARY_DYSKINESIA
ODAD2	CILIARY_DYSKINESIA,_PRIMARY,_23
ODAD3	PRIMARY_CILLARY_DYSKINEASIA
ODAD4	Primary_Ciliary_Dyskinesia_with_Left-Right_Body_Asymmetry_Randomization
ODAPH	ODAPH-related_Amyelogenesis_Imperfecta
ODC1	ODC1-related_neurodevelopmental_disorder
OFD1	JOUBERT_SYNDROME_TYPE_10 ORAL-FACIAL-DIGITAL_SYNDROME_TYPE_1 Retinitis_pigmentosa_23 SIMPSON-GOLABI-BEHMEL_SYNDROME_TYPE_2
OGDH	OGDH-related_neurodevelopmental_disorder
OGDHL	OGDHL-related_neurodevelopmental_disorder_with_seizures,_hearing_loss_and_gait_ataxia
OGT	OGT-related_developmental_disorder_(X-linked_dominant) OGT-related_developmental_disorder_(hemizygous)
ONECUT1	ONECUT1-associated_neonatal_diabetes
OPA1	Behr_syndrome Optic_atrophy Optic_atrophy_plus_syndrome
OPA3	3-methylglutaconic_aciduria,_type_III Optic_atrophy_3_with_cataract
OPHN1	INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_OPHN1-RELATED
OPN1LW	Blue_cone_monochromacy
OPN1MW	Blue_cone_monochromacy
OPTN	primary_open_angle_glaucoma_(POAG),_GLC1E
ORC1	MEIER-GORLIN_SYNDROME_1
ORC4	MEIER-GORLIN_SYNDROME_2
ORC6	MEIER-GORLIN_SYNDROME_3
OSGEP	Nephrotic_syndrome_with_primary_microcephaly
OTC	ORNITHINE_TRANSCARBAMYLASE_DEFICIENCY
OTOGL	MODERATE_SENSORINEURAL_HEARING_LOSS
OTUD5	OTUD5-associated_neurodevelopmental_disorder
OTUD6B	Intellectual_Disability_Syndrome_Associated_with_Seizures_and_Dysmorphic_Features
OTUD7A	15q13.3_deletions_phenocopy
OTULIN	Otulin-related_auto_inflammatory_syndrome
OTX2	MICROPHTHALMIA_SYNDROMIC_TYPE_5
OVOL2	Corneal_dystrophy,_posterior_polymorphous,_1
OXCT1	SUCCINYL-COA-3-KETOACID-COA_TRANSFERASE_DEFICIENCY
OXR1	Autosomal-Recessive_Neurological_Disease_with_Cerebellar_Atrophy_and_Lysosomal_Dysfunction
P3H1	OSTEOGENESIS_IMPERFECTA,_TYPE_VIII
P3H2	Myopia,_high,_with_cataract_and_vitreoretinal_degeneration
P4HA2	Myopia
P4HB	COLE-CARPENTER_SYNDROME
P4HTM	Hypotonia,_hypoventilation,_impaired_intellectual_development,_dysautonomia,_epilepsy,_and_eye_abnormalities
PABPC1	PABPC1-related_developmental_delay
PACS1	INTELLECTUAL_DISABILITY
PACS2	Unspecified_Neurodevelopmental_Disorder
PAFAH1B1	LISSENCEPHALY_TYPE_1
PAH	NON-PHENYLKETONURIA_HYPERPHENYLALANINEMIA
PAK1	Neurodevelopmental_Disorder
PAK3	AGENESIS_OF_THE_CORPUS_CALLOSUM INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_30
PALB2	FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_N PALB2_related_CANCER
PAN2	PAN2-related_neurodevelopmental_disorder_with_multiple_congenital_anomalies
PANK2	HARP_syndrome
PANK4	Congenital_cataract
PAPSS2	SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_PAKISTANI_TYPE
PARN	PARN-related_dyskeratosis_congenita
PARP1	AUTOSOMAL_RECESSIVE_INTELLECTUAL_DEVELOPMENTAL_DISORDER
PAX1	OTOFACIOCERVICAL_SYNDROME PAX1-related_oculo-auriculo-vertebral_syndrome
PAX2	PAPILLORENAL_SYNDROME RENAL-COLOBOMA_SYNDROME
PAX3	PAX3-related_Waardenburg_syndrome Waardenburg_syndrome_type_3
PAX6	ANIRIDIA PETERS_ANOMALY
PAX8	CONGENITAL_HYPOTHYROIDISM_NON-GOITROUS_TYPE_2
PAX9	TOOTH_AGENESIS,_SELECTIVE,_3
PBX1	PBX1-related_developmental_disorder_(monoallelic)
PC	PYRUVATE_CARBOXYLASE_DEFICIENCY
PCARE	RETINITIS_PIGMENTOSA_54
PCBD1	HYPERPHENYLALANINEMIA,_BH4-DEFICIENT,_D
PCBP2	PCBP2-related_developmental_disorder_(monoallelic)
PCCA	PROPIONIC_ACIDEMIA
PCCB	PROPIONIC_ACIDEMIA
PCDH12	DIENCEPHALIC-MESENCEPHALIC_JUNCTION_DYSPLASIA_SYNDROME_1
PCDH15	Usher_syndrome,_type_1F
PCDH19	EPILEPTIC_ENCEPHALOPATHY_EARLY_INFANTILE_TYPE_9
PCDHGC4	PCDHGC4-related_neurodevelopmental_disorder_with_microcephaly_and_seizures
PCGF2	Craniofacial_Neurological_Cardiovascular_and_Skeletal_Features INTELLECTUAL_DISABILITY
PCNT	MICROCEPHALIC_OSTEODYSPLASTIC_PRIMORDIAL_DWARFISM,_TYPE_II
PCYT1A	SPONDYLOMETAPHYSEAL_DYSPLASIA_WITH_CONE-ROD_DYSTROPHY
PCYT2	COMPLEX_HEREDITARY_SPASTIC_PARAPLEGIA
PDCD10	CEREBRAL_CAVERNOUS_MALFORMATIONS_TYPE_3
PDE10A	Childhood-Onset_Chorea_with_Bilateral_Striatal_Lesions
PDE4D	ACRODYSOSTOSIS
PDE6A	Retinitis_pigmentosa_43
PDE6B	Night_blindness,_congenital_stationary,_autosomal_dominant_2 Retinitis_pigmentosa-40
PDE6C	Cone_dystrophy_4
PDE6D	JOUBERT_SYNDROME
PDE6G	RETINITIS_PIGMENTOSA_57
PDE6H	ACHROMATOPSIA RETINAL_CONE_DYSTROPHY_3_PDE6H
PDGFRA	Gastrointestinal_stromal_tumor/GIST-plus_syndrome,_somatic_or_familial
PDGFRB	FAMILIAL_INFANTILE_MYOFIBROMATOSIS KOSAKI_OVERGROWTH_SYNDROME Myofibromatosis,_infantile PREMATURE_AGING_SYNDROME,_PENTTINEN_TYPE
PDHA1	INTELLECTUAL_DISABILTIY PYRUVATE_DEHYDROGENASE_E1-ALPHA_DEFICIENCY_IN_FEMALES
PDHX	LACTICACIDEMIA_DUE_TO_PDX1_DEFICIENCY
PDIA6	PDIA6-associated_syndromic_neonatal_diabetes_and_asphyxiating_thoracic_dystrophy
PDSS1	COENZYME_Q10_DEFICIENCY,_PRIMARY,_2
PDSS2	COENZYME_Q10_DEFICIENCY,_PRIMARY,_3
PDZD7	Usher_syndrome,_type_IIC,_GPR98/PDZD7_digenic
PECR	AUTOSOMAL_RECESSIVE_INTELLECTUAL_DEVELOPMENTAL_DISORDER
PEPD	PROLIDASE_DEFICIENCY
PET100	MITOCHONDRIAL_COMPLEX_IV_DEFICIENCY
PEX1	PEROXISOME_BIOGENESIS_DISORDER_COMPLEMENTATION_GROUP_1 Peroxisome_biogenesis_disorder_1A
PEX10	PEROXISOME_BIOGENESIS_DISORDER_6B PEROXISOME_BIOGENESIS_DISORDER_COMPLEMENTATION_GROUP_7
PEX11B	Peroxisome_biogenesis_disorder_14B
PEX12	PEROXISOME_BIOGENESIS_DISORDER_3B PEROXISOME_BIOGENESIS_DISORDER_COMPLEMENTATION_GROUP_3
PEX13	PEROXISOME_BIOGENESIS_DISORDER_11B PEROXISOME_BIOGENESIS_DISORDER_COMPLEMENTATION_GROUP_13
PEX14	PEROXISOME_BIOGENESIS_DISORDER_COMPLEMENTATION_GROUP_K PEX14-related_autosomal_dominant_Zellweger_spectrum_disorder Peroxisome_biogenesis_disorder_13A
PEX16	PEROXISOME_BIOGENESIS_DISORDER_8B PEROXISOME_BIOGENESIS_DISORDER_COMPLEMENTATION_GROUP_9
PEX19	Peroxisome_biogenesis_disorder_12A ZELLWEGER_SYNDROME
PEX2	PEROXISOME_BIOGENESIS_DISORDER_5B PEROXISOME_BIOGENESIS_DISORDER_COMPLEMENTATION_GROUP_5
PEX26	PEROXISOME_BIOGENESIS_DISORDER_7B ZELLWEGER_SYNDROME
PEX3	PEROXISOME_BIOGENESIS_DISORDER_COMPLEMENTATION_GROUP_12 Peroxisome_biogenesis_disorder_10A Peroxisome_biogenesis_disorder_10B
PEX5	PEROXISOME_BIOGENESIS_DISORDER_2B ZELLWEGER_SYNDROME
PEX6	PEROXISOME_BIOGENESIS_DISORDER_4B PEROXISOME_BIOGENESIS_DISORDER_COMPLEMENTATION_GROUP_4
PEX7	PEROXISOME_BIOGENESIS_DISORDER_COMPLEMENTATION_GROUP_11 RHIZOMELIC_CHONDRODYSPLASIA_PUNCTATA,_TYPE_1
PGAP1	Intellectual_disability,_encephalopathy,_impaired_GPI-anchor_maturation_
PGAP2	INTELLECTUAL_DISABILITY
PGAP3	HYPERPHOSPHATASIA_WITH_INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROME_4
PGK1	PHOSPHOGLYCERATE_KINASE_1_DEFICIENCY
PGM1	CONGENITAL_DISORDER_OF_GLYCOSYLATION,_TYPE_IT
PGM2L1	PGM2L1-related_neurodevelopmental_disorder
PGM3	IMMUNODEFICIENCY_23
PHACTR1	PHACTR1-associated_neurodevelopment_disorder
PHC1	PRIMARY_MICROCEPHALY
PHF21A	POTOCKI-SHAFFER_SYNDROME
PHF5A	PHF5A-related_neurodevelopmental_disorder_with_congenital_malformations
PHF6	BOERJESON-FORSSMAN-LEHMANN_SYNDROME
PHF8	INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROMIC_X-LINKED_SIDERIUS_TYPE
PHGDH	PHOSPHOGLYCERATE_DEHYDROGENASE_DEFICIENCY
PHIP	Developmental_delay,_ID,_obesity_and_dysmorphic_features
PHOX2A	Fibrosis_of_extraocular_muscles,_congenital,_2
PHOX2B	CENTRAL_HYPOVENTILATION_SYNDROME,_CONGENITAL,_WITH_OR_WITHOUT_HIRSCHSPRUNG_DISEASE NEUROBLASTOMA_WITH_HIRSCHSPRUNG_DISEASE
PHYH	REFSUM_DISEASE
PI4KA	PI4KA-associated_polymicrogyria,_perisylvian,_with_cerebellar_hypoplasia_and_arthrogryposis
PIBF1	JOUBERT_SYNDROME_33
PIDD1	PIDD1-related_neurodevelopmental_disorder
PIEZO1	Congenital_lymphatic_dysplasia_with_hydrops_and/or_lymphoedema
PIEZO2	ARTHROGRYPOSIS,_DISTAL,_TYPE_3 Ataxia,_dysmetria,_contractures_&_scoliosis_with_normal_cognition_but_loss_of_discriminative_touch_perception
PIGA	MULTIPLE_CONGENITAL_ANOMALIES-HYPOTONIA-SEIZURES_SYNDROME_2
PIGB	Inherited_GPI_Biosynthesis_Defect_with_an_Axonal_Neuropathy_and_Metabolic_Abnormality
PIGG	Intellectual_Disability_with_Seizures_and_Hypotonia
PIGH	GLYCOSYLPHOSPHATIDYLINOSITOL_BIOSYNTHESIS_DEFECT_17
PIGK	PIGK-associated_Neurodevelopmental_Syndrome
PIGL	CHIME_syndrome ZUNICH_NEUROECTODERMAL_SYNDROME
PIGM	Glycosylphosphatidylinositol_deficiency
PIGN	MULTIPLE_CONGENITAL_ANOMALIES-HYPOTONIA-SEIZURES_SYNDROME Multiple_congenital_anomalies-hypotonia-seizures_syndrome_1
PIGO	HYPERPHOSPHATASIA_WITH_INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROME_2
PIGP	PIGP-associated_multiple_congenital_anomalies-hypotonia-seizures_syndrome
PIGQ	SEVERE_EARLY-ONSET_EPILEPSY
PIGS	Neurological_Syndrome_Fetal_Akinesia_/Epileptic_Encephalopathy
PIGT	MULTIPLE_CONGENITAL_ANOMALIES-HYPOTONIA-SEIZURES_SYNDROME_3
PIGU	Intellectual_Disability,_Central_Nervous_System_anomalies_and_Scoliosis
PIGV	HYPERPHOSPHATASIA_WITH_INTELLECTUAL_DEVELOPMENTAL_DISORDER
PIGW	HYPERPHOSPHATASIA_WITH_INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROME_5
PIGY	Glycosylphosphatidylinositol_deficiency
PIK3CA	CLOVES:_CONGENITAL_LIPOMATOUS_OVERGROWTH,_VASCULAR_MALFORMATIONS,_AND_EPIDERMAL_NEVI HEMIMEGALENCEPHALY_PIK3CA MEGALENCEPHALY-CAPILLARY_MALFORMATION-POLYMICROGYRIA_SYNDROME,_SOMATIC_3
PIK3R1	AGAMMAGLOBULINEMIA_7,_AUTOSOMAL_RECESSIVE SHORT_SYNDROME
PIK3R2	MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS_SYNDROME_1
PIKFYVE	Fleck_corneal_dystrophy
PIP5K1C	LETHAL_CONGENITAL_CONTRACTURE_SYNDROME_TYPE_3 PIP5K1C-associated_neurodevelopmental_disorder
PITPNM3	Cone-rod_dystrophy_5
PITX1	CONGENITAL_CLUBFOOT HOMEOTIC_ARM-TO-LEG_TRANSFORMATION_ASSOCIATED_WITH_GENOMIC_REARRANGEMENTS_AT_THE_PITX1_LOCUS
PITX2	AXENFELD-RIEGER_SYNDROME_TYPE_1 Anterior_segment_dysgenesis_4 RING_DERMOID_OF_CORNEA
PITX3	ANTERIOR_SEGMENT_MESENCHYMAL_DYSGENESIS Anterior_segment_dysgenesis_1,_multiple_subtypes CATARACT_11,_MULTIPLE_TYPES
PKD1L1	Laterality_defects
PKHD1	POLYCYSTIC_KIDNEY_DISEASE,_AUTOSOMAL_RECESSIVE
PKP1	Ectodermal_dysplasia_+_skin_fragility_(McGrath_syndrome)
PKP2	PKP2-related__ARVC
PLA2G5	Fleck_retina,_familial_benign
PLA2G6	INFANTILE_NEUROAXONAL_DYSTROPHY_1
PLAA	Lethal_Infantile_Epileptic_Encephalopathy
PLAG1	PLAG1-associated_Silver_Russell_Syndrome
PLCB1	EPILEPTIC_ENCEPHALOPATHY,_EARLY_INFANTILE,_12
PLCB3	Spondylometaphyseal_dysplasia_associated_with_corneal_dystrophy_and_developmental_delay_(SMDCD)
PLCB4	AURICULOCONDYLAR_SYNDROME
PLCE1	NEPHROTIC_SYNDROME,_TYPE_3
PLCG2	AUTOINFLAMMATION,_ANTIBODY_DEFICIENCY,_AND_IMMUNE_DYSREGULATION,_PLCG2-ASSOCIATED FAMILIAL_COLD_AUTOINFLAMMATORY_SYNDROME_3
PLCH1	HPE-related_disorder
PLEC	Epidermolysis_Bullosa_Simplex_(Ogna) Epidermolysis_Bullosa_Simplex_and_limb-girdle_muscular_dystrophy
PLK4	MICROCEPHALY,_GROWTH_FAILURE_AND_RETINOPATHY Microcephaly_and_chorioretinopathy,_autosomal_recessive,_2
PLN	PLN-related_Intrinsic_Cardiomyopathy
PLOD1	EHLERS-DANLOS_SYNDROME,_KYPHOSCOLIOTIC_FORM Kyphoscoliotic_Ehlers_Danlos_Syndrome
PLOD2	BRUCK_SYNDROME_TYPE_2
PLOD3	LYSYL_HYDROXYLASE_3_DEFICIENCY
PLP1	LEUKODYSTROPHY_HYPOMYELINATING_TYPE_1 SPASTIC_PARAPLEGIA_X-LINKED_TYPE_2
PLPBP	Vitamin-B6-Dependent_Epilepsy
PLXNA1	PLXNA1-associated_neurodevelopmental_disorder_(biallelic) PLXNA1-associated_neurodevelopmental_disorder_with_seizures_(monoallelic)
PLXND1	MOEBIUS_SYNDROME PLXND1-related_cardiac_malformation_syndrome
PMM2	CONGENITAL_DISORDERS_OF_GLYCOSYLATION CONGENITAL_DISORDER_OF_GLYCOSYLATION,_TYPE_Ia
PMPCB	Neurodegeneration_in_Early_Childhood
PMS2	CONSTITUTIONAL_MISMATCH_REPAIR_DEFICIENCY_SYNDROME MISMATCH_REPAIR_CANCER_SYNDROME PMS2-related_Lynch_syndrome
PNKP	ATAXIA-OCULOMOTOR_APRAXIA_4
PNPLA1	CONGENITAL_ICHTHYOSIS
PNPLA2	NEUTRAL_LIPID_STORAGE_DISEASE_WITH_MYOPATHY
PNPLA6	Boucher-Neuhauser_syndrome PNPLA6-related_Disorder
PNPO	PNPO-related_neonatal_encephalopathy_responsive_to_pyridoxal-5'-phosphate
PNPT1	HEARING_LOSS RESPIRATORY_CHAIN_DISORDER
POC1A	PRIMORDIAL_DWARFISM
POC1B	AUTOSOMAL-RECESSIVE_CONE-ROD_DYSTROPHY Cone-rod_dystrophy_20
POGZ	INTELLECTUAL_DISABILITY
POLA1	POLA1-related_pigmentary_disorder,_reticulate,_with_systemic_manifestations VAN_ESCH-O'DRISCOLL_SYNDROME
POLD1	POLYMERASE_PROOFREADING-ASSOCIATED_POLYPOSIS SUBCUTANEOUS_LIPODYSTROPHY,_DEAFNESS,_MANDIBULAR_HYPOPLASIA_AND_MALE_HYPOGONADISM_
POLE	IMAGe_Syndrome_with_variable_immunodeficiency POLYMERASE_PROOFREADING-ASSOCIATED_POLYPOSIS
POLG	MITOCHONDRIAL_DNA_DEPLETION_SYNDROME_4A Mitochondrial_recessive_ataxia_syndrome Progressive_external_ophthalmoplegia,_autosomal_dominant_1
POLH	Xeroderma_pigmentosum,_variant_type Xeroderma_pigmentosum_group_variant
POLR1A	ACROFACIAL_DYSOSTOSIS,_CINCINNATI_TYPE
POLR1C	POLR1C-related_Leukodystrophy
POLR1D	TREACHER_COLLINS_SYNDROME_TYPE_2
POLR2A	Predisposition_to_ependymoma SYNDROMIC_INTELLECTUAL_DISABILITY
POLR3A	Autosomal_Recessive_Wiedemann_Rautenstrauch_Syndrome
POLR3B	AUTOSOMAL_RECESSIVE_INTELLECTUAL_DEVELOPMENTAL_DISORDER LEUKODYSTROPHY,_HYPOMYELINATING,_8,_WITH_OR_WITHOUT_OLIGODONTIA_AND/OR_HYPOGONADOTROPIC_HYPOGONADISM POLR3B-related_neurodevelopmental_disorder
POLR3GL	Endosteal_Hyperostosis_and_Oligodontia
POMGNT1	MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_CONGENITAL_WITH_BRAIN_AND_EYE_ANOMALIES_TYPE_A3_(MDDGA3) MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_CONGENITAL_WITH_INTELLECTUAL_DEVELOPMENTAL_DISORDER_TYPE_B3 MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_LIMB-GIRDLE_TYPE_C3
POMGNT2	WALKER_WARBERG_SYNDROME
POMK	Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_12
POMP	KERATOSIS_LINEARIS_WITH_ICHTHYOSIS_CONGENITA_AND_SCLEROSING_KERATODERMA
POMT1	MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_CONGENITAL_WITH_BRAIN_AND_EYE_ANOMALIES_TYPE_A1
POMT2	MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_CONGENITAL_WITH_BRAIN_AND_EYE_ANOMALIES_TYPE_A2
POP1	Anauxetic_Dysplasia
PORCN	FOCAL_DERMAL_HYPOPLASIA
POT1	Coats_Plus
POU1F1	POU1F1-RELATED_COMBINED_PITUITARY_HORMONE_DEFICIENCY
POU3F3	INTELLECTUAL_DISABILITY
POU4F1	POU4F1-related_ataxia,_intention_tremor,_and_hypotonia_syndrome
PPA2	Sudden_arrhythmic_cardiac_death_after_infectious_or_alcohol_trigger
PPARG	Acanthosis_Nigricans_and_insulin_resistance_syndrome_+_hypertension Lipodystrophy,_familial_partial_type_3
PPFIA3	PPFIA3-related_neurodevelopmental_disorder
PPFIBP1	PPFIBP1-related_neurodevelopmental_disorder
PPIL1	PPIL1-related_Neurodegenerative_Pontocerebellar_Hypoplasia_with_Microcephaly
PPM1D	PPM1D_syndrome
PPM1K	PPM1K-related_maple_syrup_urine_disease
PPP1CB	Rasopathy_with_developmental_delay,_short_stature_and_sparse_slow-growing_hair
PPP1R12A	PPP1R12A-related_Holoprosencephaly_Spectrum_and_Urogenital_Malformations
PPP1R13L	PPP1R13L-related_dilated_cardiomyopathy
PPP1R15B	Severe_microcephaly,_short_stature_and_intellectual_disability
PPP1R21	PPP1R21-related_neurodevelopmental_disorder
PPP2CA	Syndromic_Intellectual_Disability_Resembling_Other_PP2A_Related_Neurodevelopmental_Disorders
PPP2R1A	INTELLECTUAL_DISABILITY
PPP2R5D	INTELLECTUAL_DISABILITY
PPP3CA	Severe_Neurodevelopmental_Disease_with_Seizures
PPT1	CEROID_LIPOFUSCINOSIS,_NEURONAL,_1
PQBP1	RENPENNING_SYNDROME_1
PRCD	Retinitis_pigmentosa_36
PRDM12	HEREDITARY_SENSORY_&_AUTONOMIC_NEUROPATHY_TYPE_VIII
PRDM13	North_Carolina_macular_dystrophy PRDM13-related_olivopentocerebellar_hypoplasia_syndrome
PRDM15	PRDM15-related_renal_and_neurodevelopmental_disorder
PRDM5	Axenfeld-Rieger_syndrome Brittle_cornea_syndrome_2
PRDM6	Isolated_Nonsyndromic_Patent_Ductus_Arteriosus.
PRDX3	PRDX3-associated_cerebellar_ataxia
PREPL	HYPOTONIA-CYSTINURIA_SYNDROME
PRIM1	PRIM1-related_Primordial_Dwarfism
PRKACA	PRKACA-related_Multiple_Congenital_Malformation_Syndrome
PRKACB	PRKACB-related_Multiple_Congenital_Malformation_Syndrome
PRKAG2	PRKAG2-related_cardiomyopathy
PRKAR1A	ACRODYSOSTOSIS CARNEY_COMPLEX,_TYPE_1
PRKAR1B	PRKAR1B-related_developmental_disorder
PRKD1	Syndromic_congenital_heart_defects
PRKG2	PRKG2-related_acromesomelic_dysplasia_and_spondylometaphyseal_dysplasia
PRMT7	Pseudohypoparathyroidism-like_disorder
PRMT9	AUTOSOMAL_RECESSIVE_INTELLECTUAL_DEVELOPMENTAL_DISORDER
PROM1	Macular_dystrophy Retinitis_pigmentosa_41
PROP1	PROP1-RELATED_COMBINED_PITUITARY_HORMONE_DEFICIENCY
PRORP	PRORP-related_mitochondrial_disorder
PROSER1	PROSER1-related_developmental_disorder
PRPF19	PRPF19-related_neurodevelopmental_disorder
PRPF3	Retinitis_pigmentosa_18
PRPF31	Retinitis_pigmentosa_11
PRPF4	Retinitis_pigmentosa_70
PRPF6	Retinitis_pigmentosa_60
PRPF8	Glaucoma PRPF8-related_developmental_disorder_(monoallelic) Retinitis_pigmentosa_13
PRPH2	LEBER_CONGENITAL_AMAUROSIS Macular_dystrophy Retinitis_pigmentosa_7
PRPS1	ARTS_SYNDROME CHARCOT-MARIE-TOOTH_DISEASE_X-LINKED_RECESSIVE_TYPE_5 DEAFNESS_X-LINKED_TYPE_1 PHOSPHORIBOSYLPYROPHOSPHATE_SYNTHETASE_SUPERACTIVITY Retinal_dystrophy
PRR12	Intellectual_disability_and_iris_abnormalities
PRRT2	AUTOSOMAL_RECESSIVE_INTELLECTUAL_DEVELOPMENTAL_DISORDER BENIGN_FAMILIAL_INFANTILE_EPILEPSY_AND_INFANTILE_CONVULSIONS_WITH_CHOREOATHETOSIS_SYNDROME
PRRX1	AGNATHIA-OTOCEPHALY_COMPLEX_biallelic AGNATHIA-OTOCEPHALY_COMPLEX_monoallelic PRRX1-related_craniosynostosis
PRSS12	INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_RECESSIVE_TYPE_1
PRSS56	PRSS56-related_microphthalmia
PRUNE1	PEHO_Like_condition
PSAP	ATYPICAL_KRABBE_DISEASE
PSAT1	NEU-LAXOVA_SYNDROME
PSMB8	NAKAJO_SYNDROME
PSMC1	PSMC1-related_neurodevelopmental_disorder
PSMC3	PSMC3-related_neurodevelopmental_disorder
PSMC5	PSMC5-related_developmental_disorder_(monoallelic)
PSMD12	Global_Developmental_Delay,_Multiple_Malformations
PSPH	NEU-LAXOVA PHOSPHOSERINE_PHOSPHATASE_DEFICIENCY
PSTPIP1	Pyogenic_sterile_arthritis,_pyoderma_gangrenosum_and_acne
PTCH1	BASAL_CELL_NEVUS_SYNDROME Gorlin_syndrome HOLOPROSENCEPHALY-7
PTCH2	Gorlin_syndrome
PTCHD1	AUTISM/ID
PTDSS1	Developmental_delay LENZ-MAJEWSKI_HYPEROSTOTIC_DWARFISM
PTEN	COWDEN_SYNDROME_1 LHERMITTE-DUCLOS_DISEASE PROTEUS_SYNDROME PTEN_Hamartoma_Tumor_Syndrome
PTF1A	DIABETES_MELLITUS,_PERMANENT_NEONATAL,_WITH_CEREBELLAR_AGENESIS PANCREATIC_AGENESIS
PTH	FAMILIAL_ISOLATED_HYPOPARATHYROIDISM
PTH1R	CHONDRODYSPLASIA_BLOMSTRAND_TYPE JANSEN_METAPHYSEAL_CHONDRODYSPLASIA PRIMARY_FAILURE_OF_TOOTH_ERUPTION
PTHLH	BRACHYDACTYLY,_TYPE_E2 CLUBBING_WITH_SKELETAL_DYSPLASIA_INC_ACROOSTEOLYSIS
PTPN11	NOONAN_SYNDROME_1 PTPN11-related_NSML_syndrome PTPN11-related_Noonan_Syndrome_with_Multiple_Lentigines PTPN11-related_Noonan_syndrome
PTPN13	PTPN13_related_predisposition_to_bone_marrow_failure
PTPN14	CHOANAL_ATRESIA_AND_LYMPHEDEMA
PTPRF	ATHELIA
PTRH2	NEUROLOGIC,_ENDOCRINE,_AND_PANCREATIC_DISEASE,_MULTISYSTEM,_INFANTILE-ONSET
PTS	6-PYRUVOYLTETRAHYDROPTERIN_SYNTHASE_DEFICIENCY
PUF60	PUF60_syndrome Verheij_syndrome
PURA	INTELLECTUAL_DISABILITY
PUS1	MYOPATHY,_LACTIC_ACIDOSIS,_AND_SIDEROBLASTIC_ANEMIA_1
PUS3	PUS3-associated_neurodevelopmental_disorder_with_microcephaly_and_gray_sclerae
PUS7	Intellectual_Disability_with_Speech_Delay_Microcephaly_Short_Stature_and_Aggressive_Behavior
PXDN	PXDN-related_anterior_segment_dysgenesis_with_sclerocornea
PYCR1	CUTIS_LAXA,_AUTOSOMAL_RECESSIVE,_TYPE_IIB
PYCR2	POSTNATAL_MICROCEPHALY,_HYPOMYELINATION,_AND_REDUCED_CEREBRAL_WHITE-MATTER_VOLUME
PYGL	GLYCOGEN_STORAGE_DISEASE_TYPE_VI
PYROXD1	Early-Onset_Myopathy_with_Internalized_Nuclei_and_Myofibrillar_Disorganization
QARS1	MICROCEPHALY,_PROGRESSIVE,_SEIZURES,_AND_CEREBRAL_AND_CEREBELLAR_ATROPHY
QDPR	BH4-DEFICIENT_HYPERPHENYLALANINEMIA_C
QKI	INTELLECTUAL_DISABILITY
QRICH1	QRICH1_syndrome
RAB11A	Epilepsy_and_intellectual_disability
RAB11B	INTELLECTUAL_DISABILITY
RAB14	RAB14-related_developmental_disorder_(monoallelic)
RAB18	WARBURG_MICRO_SYNDROME_TYPE_3
RAB23	ACROCEPHALOPOLYSYNDACTYLY_TYPE_2
RAB27A	Griscelli_Type_2
RAB28	Cone-rod_dystrophy_18
RAB34	RAB34-related_orofaciodigital_syndrome
RAB39B	INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_72_(MRX72)_+/-_PARKINSONS
RAB3GAP1	WARBURG_MICRO_SYNDROME_TYPE_1
RAB3GAP2	MARTSOLF_SYNDROME
RABGAP1	RABGAP1-related_neurodevelopmental_disorder_with_microcephaly_and_sensorineural_hearing_loss
RABL6	AUTOSOMAL_RECESSIVE_INTELLECTUAL_DEVELOPMENTAL_DISORDER
RAC1	RAC1-related_neurodevelopmental_disorder
RAC3	Neurodevelopment_disorder
RAD21	COHESINOPATHY
RAD50	NIJMEGEN_BREAKAGE_SYNDROME-LIKE_DISORDER
RAD51	MIRROR_MOVEMENTS_2
RAD51C	FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_0 RAD51C_related_cancer
RAD51D	RAD51D_related_cancer
RAF1	NOONAN_SYNDROME_5 RAF1-related_Noonan_syndrome
RAG1	Omenn_syndrome
RAG2	Omenn_syndrome
RAI1	SMITH-MAGENIS_SYNDROME
RALA	RALA-related_Neurodevelopmental_Syndrome
RALGAPA1	RALGAPA1-related_neurodevelopmental_disorder
RALGDS	AUTOSOMAL_RECESSIVE_INTELLECTUAL_DEVELOPMENTAL_DISORDER
RANBP2	ACUTE_NECROTIZING_ENCEPHALOPATHY_1,_SUSCEPTIBILITY_TO
RAP1B	RAP1B-related_developmental_disorder
RAPSN	FETAL_AKINESIA_DEFORMATION_SEQUENCE
RARB	MICROPHTHALMIA_AND_DIAPHRAGMATIC_HERNIA Microphthalmia,_syndromic_12 RARB-related_microphthalmia_syndromic
RARS1	RARS1_related_hypomyelinating_leukodystrophy
RARS2	PONTOCEREBELLAR_HYPOPLASIA_TYPE_6
RASA1	CAPILLARY_MALFORMATION-ARTERIOVENOUS_MALFORMATION_1
RAX	MICROPHTHALMIA_ISOLATED_TYPE_3 Ocular_coloboma
RAX2	Cone-rod_dystrophy_11 Retinitis_pigmentosa
RB1	RETINOBLASTOMA
RBBP8	RBBP8-related_microcephaly_and_intellectual_disability
RBFOX1	RBFOX1-related_neurodevelopmental_disorder
RBM10	TARP_SYNDROME
RBM20	RBM20-related_DCM
RBM28	ALOPECIA_NEUROLOGIC_DEFECTS_AND_ENDOCRINOPATHY_SYNDROME
RBM8A	THROMBOCYTOPENIA-ABSENT_RADIUS_SYNDROME
RBP3	Retinitis_pigmentosa_66
RBP4	Microphthalmia,_isolated,_with_coloboma Retinal_dystrophy,_iris_coloboma,_and_comedogenic_acne_syndrome
RBPJ	ADAMS_OLIVER_SYNDROME
RCBTB1	Familial_exudative_vitreoretinopathy Retinal_dystrophy_with_or_without_extraocular_anomalies
RD3	Leber_congenital_amaurosis_12
RDH11	Retinal_dystrophy,_juvenile_cataracts,_and_short_stature_syndrome
RDH12	Leber_congenital_amaurosis_13
RDH5	Fundus_albipunctatus
RECQL4	BALLER-GEROLD_SYNDROME ROTHMUND-THOMSON_SYNDROME
REEP6	Retinitis_pigmentosa
RELN	LISSENCEPHALY_2
RERE	Phenocopy_of_Proximal_1p36_Deletions
REST	REST-related_gingival_fibromatosis_and_sensorineural_hearing_loss Wilms_tumour
RET	MEDULLARY_THYROID_CARCINOMA MULTIPLE_ENDOCRINE_NEOPLASIA_IIA MULTIPLE_ENDOCRINE_NEOPLASIA_IIB Pheochromocytoma RENAL_AGENESIS
RETREG1	NEUROPATHY,_HEREDITARY_SENSORY_AND_AUTONOMIC,_TYPE_IIB
REV3L	MOEBIUS_SYNDROME
RFT1	CONGENITAL_DISORDER_OF_GLYCOSYLATION_TYPE_1N
RFX6	MARTINEZ-FRIAS_SYNDROME
RGR	Retinitis_pigmentosa_44
RGS7	AUTOSOMAL_RECESSIVE_INTELLECTUAL_DEVELOPMENTAL_DISORDER
RGS9	Bradyopsia
RGS9BP	Bradyopsia
RHBDF2	PPK_+_oesophageal_cancer TYLOSIS_WITH_ESOPHAGEAL_CANCER
RHO	Night_blindness,_congenital_stationary,_autosomal_dominant_1 Retinitis_pigmentosa_4,_autosomal_dominant_or_recessive
RHOBTB2	Developmental_and_Epileptic_Encephalopathy
RIC1	Syndromic_congenital_cataract
RIGI	SINGLETON-MERTEN_SYNDROME Singleton-Merten_syndrome_2
RIMS1	Cone-rod_dystrophy_7
RIMS2	RIMS2_Syndromic_Congenital_Cone-Rod_Synaptic_Disease
RIN2	MACROCEPHALY,_ALOPECIA,_CUTIS_LAXA,_AND_SCOLIOSIS_TALL_FOREHEAD,_SPARSE_HAIR,_SKIN_HYPEREXTENSIBILITY,_AND_SCOLIOSIS
RINT1	Infantile-Onset_Recurrent_Acute_Liver_Failure_and_Skeletal_Abnormalities
RIPK4	POPLITEAL_PTERYGIUM_SYNDROME,_LETHAL_TYPE
RIT1	NOONAN_SYNDROME_8 RIT1-related_Noonan_syndrome
RLBP1	Bothnia_retinal_dystrophy Newfoundland_rod-cone_dystrophy
RLIM	INTELLECTUAL_DISABILITY
RMI1	Bloom_Syndrome_like_Disorder
RMND1	ENCEPHALOPATHY_ASSOCIATED_WITH_MULTIPLE_OXIDATIVE_PHOSPHORYLATION_COMPLEX_DEFICIENCIES_AND_A_MITOCHONDRIAL_TRANSLATION_DEFECT
RMRP	CARTILAGE-HAIR_HYPOPLASIA
RNASEH2A	AICARDI-GOUTIERES_SYNDROME_4
RNASEH2B	AICARDI-GOUTIERES_SYNDROME_2
RNASEH2C	AICARDI-GOUTIERES_SYNDROME_3
RNASET2	LEUKOENCEPHALOPATHY,_CYSTIC,_WITHOUT_MEGALENCEPHALY
RNF113A	X-LINKED_TRICHOTHIODYSTROPHY
RNF125	RNF125-related_intellectual_disability_and_macrocephaly
RNF13	Congenital_Microcephaly_Epileptic_Encephalopathy_Blindness_and_Failure_to_Thrive
RNF135	MACROCEPHALY,_MACROSOMIA,_FACIAL_DYSMORPHISM_SYNDROME
RNF168	RIDDLE_SYNDROME
RNH1	RNH1-related_susceptibility_to_infection-related_encephalopathy
RNLS	Congenital_cataract
RNPC3	RNPC3-associated_growth_hormone_deficiency_and_short_stature
RNU12	RNU12-related_CDAGS_syndrome
RNU4-2	RNU4-2_related_neurodevelopmental_disorder_with_microcephaly_and_seizures
RNU4ATAC	MICROCEPHALIC_OSTEODYSPLASTIC_PRIMORDIAL_DWARFISM,_TYPE_I
ROBO3	FAMILIAL_HORIZONTAL_GAZE_PALSY_WITH_PROGRESSIVE_SCOLIOSIS Gaze_palsy,_horizontal,_with_progressive_scoliosis
ROBO4	Bicuspid_Aortic_Valve_and_Aortic_Aneurysm
ROGDI	KOHLSCHUTTER-TONZ_SYNDROME
ROR2	BRACHYDACTYLY,_TYPE_B1 ROBINOW_SYNDROME,_AUTOSOMAL_RECESSIVE_1
RORA	INTELLECTUAL_DISABILITY
RORB	RORB-epilepsy_and_neurodevelopmental_disorder
RP1	Retinitis_pigmentosa_1
RP1L1	Cone_dystrophy Occult_macular_dystrophy Retinitis_pigmentosa
RP2	Retinitis_pigmentosa_2
RP9	Retinitis_pigmentosa_9
RPE65	Autosomal_dominant_retinal_dystrophy LEBER_CONGENITAL_AMAUROSIS Leber_congenital_amaurosis_2 Retinitis_pigmentosa
RPGR	Macular_degeneration,_X-linked_atrophic Retinitis_pigmentosa_3
RPGRIP1	LEBER_CONGENITAL_AMAUROSIS_6 RPGRIP1-related_retinal_dystrophy
RPGRIP1L	MECKEL_SYNDROME_TYPE_5
RPH3A	RPH3A-related_neurodevelopmental_disorder
RPIA	Ribose_5-phosphate_isomerase_deficiency
RPL10	INTELLECTUAL_DEVELOPMENTAL_DISORDER,_X-LINKED,_SYNDROMIC,_35
RPL11	Diamond-Blackfan_anemia_with_cleft_palate_and_abnormal_thumbs
RPL13	Spondyloepimetaphyseal_Dysplasia_with_Severe_Short_Stature
RPL26	DIAMOND-BLACKFAN_ANEMIA_11
RPS19	RPS19-RELATED_DIAMOND-BLACKFAN_ANEMIA
RPS23	Microcephaly,_hearing_loss,_and_dysmorphic_features
RPS26	DIAMOND-BLACKFAN_ANEMIA_10
RPS6KA3	RPS6KA3-related_Coffin-Lowry_syndrome
RRAGA	Cataract
RRAGC	RRAGC-related_congenital_dilated_cardiomyopathy_with_hyperlactatemia,_deranged_liver_function_and_cataracts_
RRAS	ATYPICAL_NOONAN_SYNDROME
RRAS2	Noonan_syndrome
RRM1	RRM1-related_mitochondrial_DNA_depletion/deletions_syndrome
RRM2B	Mitochondrial_depletion_syndrome
RS1	Retinoschisis
RSPH1	PRIMARY_CILIARY_DYSKINESIA_WITH_CENTRAL-COMPLEX_AND_RADIAL-SPOKE_DEFECTS
RSPH3	PRIMARY_CILIARY_DYSKINESIA_WITH_CENTRAL-COMPLEX_DEFECTS
RSPO2	Tetra-amelia_with_lung_agenesis
RSPO4	ANONYCHIA_CONGENITA
RSPRY1	PROGRESSIVE_SPONDYLOEPIMETAPHYSEAL_DYSPLASIA
RSRC1	INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AUTOSOMAL_RECESSIVE_70
RTEL1	RTEL1-related_dyskeratosis_congenita
RTN4IP1	EARLY-ONSET_RECESSIVE_OPTIC_NEUROPATHY Optic_atrophy_10_with_or_without_ataxia,_INTELLECTUAL_DEVELOPMENTAL_DISORDER,_and_seizures
RTTN	BILATERAL_DIFFUSE_POLYMICROGYRIA
RUBCN	SYNDROMIC_MR_WITH_ATAXIA,_DYSARTHRIA_AND_EPILEPSY
RUNX1	PLATELET_DISORDER,_FAMILIAL,_WITH_ASSOCIATED_MYELOID_MALIGNANCY
RUNX2	CLEIDOCRANIAL_DYSPLASIA
RXYLT1	SEVERE_COBBLESTONE_LISSENCEPHALY
RYR1	MINICORE_MYOPATHY_WITH_EXTERNAL_OPHTHALMOPLEGIA
RYR2	RYR2-related_CPVT RYR2-related_Catecholaminergic_polymorphic_ventricular_tachycardia_and_intellectual_disability
RYR3	EPILEPTIC_ENCEPHALOPATHY
SACS	SPASTIC_ATAXIA,_CHARLEVOIX-SAGUENAY_TYPE
SAG	Oguchi_disease-1 Retinitis_pigmentosa_47
SALL1	TOWNES-BROCKS_SYNDROME
SALL4	DUANE-RADIAL_RAY_SYNDROME
SAMD11	Retinitis_pigmentosa
SAMD9	MIRAGE_-_myelodysplasia,_infection,_restriction_of_growth,_adrenal_hypoplasia,_genital_phenotypes,_enteropathy
SAMD9L	Ataxia-Pancytopenia_Syndrome
SAMHD1	AICARDI-GOUTIERES_SYNDROME
SARS1	Autosomal_dominant_SARS1-related_neurodevelopmental_disorder SARS1-related_neurodevelopmental_disorder_with_microcephaly,_ataxia,_and_seizures
SARS2	SARS2-related_hyperuricemia,_pulmonary_hypertension,_renal_failure_and_alkalosis
SART3	SART3-related_neurodevelopmental_disorder_with_46,XY_gonadal_dysgenesis_(INDYGON)
SATB1	SATB1-related_developmental_disorder_(monoallelic)
SATB2	GLASS_SYNDROME
SBDS	SHWACHMAN-DIAMOND_SYNDROME
SBF2	Charcot-Marie-Tooth_disease,_type_4B2
SC5D	LATHOSTEROLOSIS
SCAF4	SCAF4-related_Neurodevelopmental_Disorder
SCAPER	SCAPER-related_neurodevelopmental_disorder_and_retinitis_pigmentosa
SCARF2	VAN_DEN_ENDE-GUPTA_SYNDROME
SCLT1	Retinitis_pigmentosa
SCN11A	CONGENITAL_INABILITY_TO_EXPERIENCE_PAIN EPISODIC_PAIN_SYNDROME,_FAMILIAL
SCN1A	SCN1A-RELATED_SEIZURE_DISORDERS
SCN1B	BRUGADA_SYNDROME_5
SCN2A	INFANTILE_EPILEPTIC_ENCEPHALOPATHY NONSPECIFIC_SEVERE_ID
SCN3A	Focal_epilepsy
SCN4A	HYPERKALEMIC_PERIODIC_PARALYSIS_TYPE_1 HYPOKALEMIC_PERIODIC_PARALYSIS PARAMYOTONIA_CONGENITA_OF_VON_EULENBURG
SCN5A	SCN5A-related_BrS SCN5A-related_DCM SCN5A-related_LQTS
SCN8A	EPILEPTIC_ENCEPHALOPATHY,_EARLY_INFANTILE,_13
SCN9A	Erythromelalgia,_primary
SCNM1	SCNM1-associated_orofaciodigital_syndrome
SCO1	MITOCHONDRIAL_COMPLEX_IV_DEFICIENCY
SCO2	FATAL_INFANTILE_CARDIOENCEPHALOMYOPATHY_DUE_TO_CYTOCHROME_C_OXIDASE_DEFICIENCY MYOPIA_6
SCRIB	8Q24.3_DELETION-LIKE
SCUBE3	SCUBE3-related_developmental_disorder
SCYL1	Episodes_of_Liver_Failure,_Peripheral_Neuropathy,_Cerebellar_Atrophy,_and_Ataxia
SDCCAG8	SENIOR-LOKEN_SYNDROME_7
SDHA	LEIGH_SYNDROME PARAGANGLIOMAS
SDHAF1	MITOCHONDRIAL_COMPLEX_II_DEFICIENCY
SDHAF2	PARAGANGLIOMAS_2
SDHB	GASTROINTESTINAL_STROMAL_TUMOR PARAGANGLIOMA_AND_GASTRIC_STROMAL_SARCOMA Pheochromocytoma
SDHC	PARAGANGLIOMAS_3
SDHD	CARCINOID_TUMORS,_INTESTINAL PARAGANGLIOMAS_1,_WITH_OR_WITHOUT_DEAFNESS Pheochromocytoma
SEC23A	CRANIOLENTICULOSUTURAL_DYSPLASIA
SEC23B	ANEMIA,_DYSERYTHROPOIETIC_CONGENITAL,_TYPE_II Cowden_syndrome
SEC24D	SYNDROMIC_OSTEOGENESIS_IMPERFECTA
SEC61A1	Autosomal-Dominant_Tubulo-Interstitial_and_Glomerulocystic_Kidney_Disease_with_Anemia
SECISBP2	THYROID_HORMONE_METABOLISM,_ABNORMAL
SELENOI	EPT1-related_complex_progressive_hereditary_spastic_paraplegia
SELENON	SELENON-related_myopathy
SEMA3A	SEMA3A-related_skeletal_dysplasia
SEMA4A	Retinitis_pigmentosa_35
SEMA6B	SEMA6B-related_neurodevelopmental_disorder_
SEPSECS	Pontocerebellar_hypoplasia_type_2D
SERAC1	3-methylglutaconic_aciduria_with_deafness,_encephalopathy,_and_Leigh-like_syndrome
SET	SET_syndrome
SETBP1	DEVELOPMENTAL_AND_EXPRESSIVE_LANGUAGE_DELAY SCHINZEL-GIEDION_MIDFACE_RETRACTION_SYNDROME
SETD1A	INTELLECTUAL_DISABILITY
SETD1B	SETD1B_associated_intellectual_disability,_epilepsy_and_autism
SETD2	Rabin-Pappas_syndrome SETD2-associated_Overgrowth_Syndrome_(Luscan-Lumish_syndrome)
SETD5	INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AUTOSOMAL_DOMINANT_23
SF3B4	ACROFACIAL_DYSOSTOSIS_1,_NAGER_TYPE
SGSH	MUCOPOLYSACCHARIDOSIS_TYPE_3A
SH2D1A	Lymphoproliferative_syndrome,_X-linked
SH3BP2	Cherubism
SH3PXD2B	FRANK-TER_HAAR_SYNDROME
SHANK1	AUTISM
SHANK2	SUSCEPTIBILITY_TO_AUTISM_TYPE_17
SHANK3	PHELAN-MCDERMID_SYNDROME
SHH	HOLOPROSENCEPHALY_TYPE_3 MICROPHTHALMIA_ISOLATED_WITH_COLOBOMA_TYPE_5 SOLITARY_MEDIAN_MAXILLARY_CENTRAL_INCISOR TRIPHALANGEAL_THUMB-POLYSYNDACTYLY_SYNDROME
SHMT2	SHMT2-related_neurodevelopmental_syndrome
SHOC2	NOONAN-LIKE_SYNDROME_WITH_LOOSE_ANAGEN_HAIR
SHOX	LANGER_MESOMELIC_DYSPLASIA LERI-WEILL_DYSCHONDROSTEOSIS
SHROOM3	NEURAL_TUBE_DEFECT
SIAH1	SIAH1-associated_neurodevelopmental_disorder
SIK1	NEONATAL_EPILEPSY_SPECTRUM
SIL1	MARINESCO-SJOEGREN_SYNDROME MARINESCO-SJOGREN_SYNDROME
SIM1	Severe_obesity_with_neurobehavioral_features
SIN3A	SYNDROMIC_INTELLECTUAL_DISABILITY
SIN3B	SIN3B-related_syndromic_intellectual_disability_and_autism_spectrum_disorder
SIPA1L3	Cataract_45
SIX1	BRANCHIOOTIC_SYNDROME_TYPE_3 Non-syndromic_craniosynostosis
SIX3	HOLOPROSENCEPHALY HOLOPROSENCEPHALY_2
SIX5	BRANCHIOOTORENAL_SYNDROME_TYPE_2
SIX6	MAC_spectrum MICROPHTHALMIA,_ISOLATED,_WITH_CATARACT_2
SKI	SHPRINTZEN-GOLDBERG_CRANIOSYNOSTOSIS_SYNDROME
SKIC2	TRICHOHEPATOENTERIC_SYNDROME_2
SKIC3	TRICHOHEPATOENTERIC_SYNDROME
SLC10A7	Chondrodysplasia_with_multiple_dislocations_and_amelogenesis_imperfecta
SLC12A5	SLC12A5-related_epilepsy_of_infancy_with_migrating_focal_seizures
SLC12A6	AGENESIS_OF_THE_CORPUS_CALLOSUM_WITH_PERIPHERAL_NEUROPATHY
SLC13A1	SLC13A1-associated_hypersulfaturia_and_hyposulfatemia
SLC13A5	EPILEPTIC_ENCEPHALOPATHY_WITH_SEIZURE_ONSET_IN_THE_FIRST_DAYS_OF_LIFE
SLC16A12	Cataract_47,_juvenile,_with_microcornea
SLC16A2	MCT8_(SLC16A2)-SPECIFIC_THYROID_HORMONE_CELL_TRANSPORTER_DEFICIENCY
SLC17A5	SALLA_DISEASE
SLC18A2	SLC18A2-related_neurotransmitter_disorder_with_dystonia_and_oculogyric_crisis
SLC19A3	THIAMINE_METABOLISM_DYSFUNCTION_SYNDROME_2
SLC1A2	EPILEPTIC_ENCEPHALOPATHY
SLC1A4	SLC1A4-related_Spastic_tetraplegia,_thin_corpus_callosum,_and_progressive_microcephaly
SLC22A5	SLC22A5-related_primary_systemic_carnitine_deficiency SYSTEMIC_PRIMARY_CARNITINE_DEFICIENCY
SLC24A1	NIGHT_BLINDNESS,_CONGENITAL_STATIONARY,_TYPE_1D SLC24A1-related_night_blindness,_congenital_stationary_
SLC24A4	AMELOGENESIS_IMPERFECTA
SLC24A5	Albinism,_oculocutaneous,_type_VII
SLC25A1	SLC25A1-related_Neurometabolic_Disorder
SLC25A15	HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA_SYNDROME
SLC25A19	AMISH_LETHAL_MICROCEPHALY
SLC25A20	CARNITINE-ACYLCARNITINE_TRANSLOCASE_DEFICIENCY
SLC25A22	EPILEPTIC_ENCEPHALOPATHY,_EARLY_INFANTILE,_3
SLC25A24	Gorlin-Chaudhry-Moss_syndrome_(GCMS);__Syndrome_with_Hypertrichosis,_Progeroid_Appearance,_and_Mitochondrial_Dysfunction
SLC25A26	INTRA-MITOCHONDRIAL_METHYLATION_DEFICIENCY
SLC25A38	ANEMIA,_SIDEROBLASTIC,_PYRIDOXINE-REFRACTORY,_AUTOSOMAL_RECESSIVE
SLC25A4	Fontaine_progeroid_syndrome SLC25A4-related_Mitochondrial_disease Severe_Early-Onset_Mitochondrial_Disease_and_Loss_of_Mitochondrial_DNA_Copy_Number
SLC25A42	SLC25A42-associated_metabolic_crises,_recurrent,_with_variable_encephalomyopathic_features_and_neurologic_regression
SLC25A46	Neuropathy,_hereditary_motor_and_sensory,_type_VIB
SLC26A2	ACHONDROGENESIS_TYPE_1B MULTIPLE_EPIPHYSEAL_DYSPLASIA_TYPE_4
SLC27A4	ICHTHYOSIS_PREMATURITY_SYNDROME
SLC2A1	GLUT1_deficiency_syndrome_1,_infantile_onset,_severe Glucose_Transporter_Type_1_Deficiency_Syndrome
SLC2A10	ARTERIAL_TORTUOSITY_SYNDROME
SLC2A2	FANCONI-BICKEL_SYNDROME
SLC30A7	SLC30A7-associated_Joubert_syndrome
SLC31A1	SLC31A1-associated_congenital_copper_transport_disorder
SLC32A1	SLC32A1-associated_developmental_and_epileptic_encephalopathy
SLC33A1	AUTOSOMAL-RECESSIVE_DISORDER_WITH_CONGENITAL_CATARACTS,_HEARING_LOSS,_AND_LOW_SERUM_COPPER_AND_CERULOPLASMIN CONGENITAL_CATARACTS,_HEARING_LOSS,_AND_NEURODEGENERATION
SLC35A1	CONGENITAL_DISORDERS_OF_GLYCOSYLATION
SLC35A2	Epileptic_Encephalopathy_due_to_congenital_disorder_of_glycosylation
SLC35B2	SLC35B2-related_chondrodysplasia_with_hypomyelinating_leukodystrophy
SLC35C1	CONGENITAL_DISORDER_OF_GLYCOSYLATION_TYPE_2C
SLC35D1	SCHNECKENBECKEN_DYSPLASIA
SLC37A4	Glycogen_storage_disease_Ib SLC37A4-related_congenital_disorder_of_glycosylation_with_liver_dysfunction
SLC38A3	SLC38A3-associated_epileptic_encephalopathy.
SLC38A8	Foveal_hypoplasia_2,_with_or_without_optic_nerve_misrouting_and/or_anterior_segment_dysgenesis
SLC39A13	EHLERS-DANLOS_SYNDROME-LIKE_SPONDYLOCHEIRODYSPLASIA SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_WITH_ABNORMAL_DENTITION
SLC39A4	Acrodermatitis_enteropathica,_zinc_deficiency_type
SLC39A5	Myopia_24,_autosomal_dominant
SLC39A8	Intellectual_Disability_with_Cerebellar_Atrophy
SLC40A1	Haemochromatosis_type_4
SLC45A1	Intellectual_disability_and_epilepsy
SLC45A2	Albinism,_oculocutaneous,_type_IV Albinism_(oculocutaneous_type_4)
SLC46A1	HEREDITARY_FOLATE_MALABSORPTION
SLC4A1	RENAL_TUBULAR_ACIDOSIS,_DISTAL,_AD RENAL_TUBULAR_ACIDOSIS,_DISTAL,_AR
SLC4A11	CORNEAL_DYSTROPHY,_FUCHS_ENDOTHELIAL,_4 SLC4A11-related_corneal_endothelial_dystrophy_with_or_without_deafness
SLC4A3	SLC4A3-related_SQTS
SLC4A4	PROXIMAL_RENAL_TUBULAR_ACIDOSIS_WITH_OCULAR_ABNORMALITIES RENAL_TUBULAR_ACIDOSIS,_PROXIMAL,_WITH_OCULAR_ABNORMALITIES_AND_INTELLECTUAL_DEVELOPMENTAL_DISORDER
SLC52A2	Brown-Vialetto-Van_Laere_syndrome_2
SLC52A3	BROWN-VIALETTO-VAN_LAERE_SYNDROME
SLC5A5	THYROID_HORMONOGENESIS_DEFECT_I
SLC5A6	SLC5A6-related_Neurodevelopmental_Disorder
SLC5A7	Congenital_Myasthenic_Syndrome_with_Episodic_Apnea
SLC6A1	EPILEPSY_WITH_MYOCLONIC-ATONIC_SEIZURES
SLC6A17	INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AUTOSOMAL_RECESSIVE_48
SLC6A19	Hartnup_disease
SLC6A3	PARKINSONISM-DYSTONIA,_INFANTILE
SLC6A5	HYPEREKPLEXIA
SLC6A8	X-LINKED_CREATINE_DEFICIENCY_SYNDROME
SLC6A9	Glycine_Encephalopathy_with_Arthrogryposis
SLC7A14	Retinitis_pigmentosa_68
SLC9A6	INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROMIC_X-LINKED_CHRISTIANSON_TYPE
SLC9A7	Intellectual_developmental_disorder,_X-linked_108
SLC9A9	SUSCEPTIBILITY_TO_AUTISM_TYPE_16
SLF2	SLF2-related_developmental_disorder
SLIRP	SLIRP-related_mitochondrial_encephalomyopathy
SLITRK6	Deafness_and_myopia
SLURP1	PPK_Mal_de_Meleda_(transgrediens)
SLX4	FANCONI_ANEMIA_COMPLEMENTATION_GROUP_P
SMAD2	CONGENITAL_HEART_DISEASE
SMAD3	SMAD3-RELATED_LOEYS-DIETZ_SYNDROME
SMAD4	MYHRE_SYNDROME SMAD4-related_juvenile_polyposis/hereditary_hemorrhagic_telangiectasia_syndrome
SMAD6	Non-syndromic_craniosynostosis
SMARCA2	NICOLAIDES-BARAITSER_SYNDROME
SMARCA4	COFFIN_SIRIS RHABDOID_TUMOR_PREDISPOSITION_SYNDROME RHABDOID_TUMOR_PREDISPOSITION_SYNDROME_2
SMARCAL1	SCHIMKE_IMMUNOOSSEOUS_DYSPLASIA
SMARCB1	EHMT1-like_SYNDROME RHABDOID_PREDISPOSITION_SYNDROME_1 SCHWANNOMATOSIS
SMARCC2	Syndromic_Intellectual_Disability_and_Developmental_Delay
SMARCD1	SYNDROMIC_INTELLECTUAL_DISABILITY
SMARCE1	COFFIN_SIRIS Meningioma,_familial
SMC1A	CORNELIA_DE_LANGE_SYNDROME_TYPE_2 SMC1A-related_Epileptic_Encephalopathy
SMC3	CORNELIA_DE_LANGE_SYNDROME_TYPE_3
SMC5	SMC5-related_developmental_disorder
SMCHD1	Isolated_Arhinia/Bosma_Arhinia_syndrome
SMG8	SMG8-related_Developmental_Disorder
SMG9	SMG9_Multiple_Congenital_Anomaly_Syndrome
SMO	Curry-Jones_Syndrome SMO-related_developmental_disorder
SMOC1	Microphthalmia_with_limb_anomalies OPHTHALMOACROMELIC_SYNDROME
SMOC2	DENTIN_DYSPLASIA,_TYPE_I,_WITH_MICRODONTIA_AND_MISSHAPEN_TEETH
SMPD1	NIEMANN-PICK_DISEASE_TYPE_A
SMPD4	Developmental_Disorder_with_Microcephaly_and_Congenital_Arthrogryposis
SMS	SNYDER-ROBINSON_SYNDROME
SNAI2	Piebaldism Waardenburg_syndrome_type_IID
SNAP25	Epilepsy_and_intellectual_disability
SNAP29	CEDNIK_SYNDROME
SNAPC4	SNAPC4-related_neurodevelopmental_disorder_with_motor_regression,_progressive_spastic_paraplegia,_and_oromotor_dysfunction
SNIP1	SYMPTOMATIC_EPILEPSY_AND_SKULL_DYSPLASIA
SNORD118	Leukoencephalopathy_with_cerebral_calcification_&_cysts
SNRNP200	Retinal_dystrophy Retinitis_pigmentosa_33
SNRPB	CEREBRO-COSTO-MANDIBULAR_SYNDROME
SNRPE	AUTOSOMAL-DOMINANT_HYPOTRICHOSIS_SIMPLEX
SNRPN	Prader-Willi_syndrome
SNX14	ID,_MACROCEPHALY_AND_CEREBELLAR_HYPOPLASIA
SNX3	MICROPHTHALMIA_SYNDROMIC_TYPE_8
SOBP	INTELLECTUAL_DEVELOPMENTAL_DISORDER-ANTERIOR_MAXILLARY_PROTRUSION-STRABISMUS
SON	Intellectual_Disability,_Congenital_Malformations,_and_Failure_to_Thrive
SOS1	NOONAN_SYNDROME_4
SOS2	SOS2_associated_Noonan_syndrome
SOX10	PERIPHERAL_DEMYELINATING_NEUROPATHY,_CENTRAL_DYSMYELINATING_LEUKODYSTROPHY,_WAARDENBURG_SYNDROME,_AND_HIRSCHSPRUNG_DISEASE WAARDENBURG_SYNDROME_TYPE_2E Waardenburg-Shah_syndrome,_neurologic_variant YEMENITE_DEAF-BLIND_HYPOPIGMENTATION_SYNDROME
SOX11	SOX11-related_neurodevelopmental_disorder
SOX17	VESICOURETERAL_REFLUX_TYPE_3
SOX18	Hypotrichosis-lymphoedema-telangiectasia_syndrome
SOX2	MICROPHTHALMIA_SYNDROMIC_TYPE_3
SOX3	INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_WITH_ISOLATED_GROWTH_HORMONE_DEFICIENCY SEX_REVERSAL_TYPE_3
SOX4	Neurodevelopmental_Disease_Associated_with_Mild_Dysmorphism
SOX5	12P12.5_INTRAGENIC_DELETIONS_ASSOCIATED_WITH_INTELLECTUAL_DISABILITY
SOX6	SOX6-related_neurodevelopmental_syndrome
SOX9	CAMPOMELIC_DYSPLASIA PIERRE_ROBIN_SEQUENCE
SPAG1	PRIMARY_CILIARY_DYSKINESIA_ASSOCIATED_WITH_DEFECTIVE_OUTER_AND_INNER_DYNEIN_ARMS.
SPARC	OSTEOGENESIS_IMPERFECTA,_TYPE_XVII
SPAST	SPAST-related_developmental_disorder_(monoallelic) SPASTIC_ATAXIA,_CHARLEVOIX-SAGUENAY_TYPE
SPATA7	Leber_congenital_amaurosis_3
SPECC1L	FACIAL_CLEFTING,_OBLIQUE,_1
SPEG	CENTRONUCLEAR_MYOPATHY_WITH_DILATED_CARDIOMYOPATHY
SPEN	SPEN-related_developmental_disorder_(monoallelic)
SPG11	SPASTIC_PARAPLEGIA-11
SPG7	Spastic_paraplegia_7,_autosomal_recessive
SPINK5	Netherton_syndrome
SPINT2	Syndromic_congenital_sodium_diarrhea
SPOP	SPOP-related_Neurodevelopmental_Disorder,_dominant_negative SPOP-related_Neurodevelopmental_Disorder,_gain_of_function
SPP2	Retinitis_pigmentosa
SPR	DOPA-RESPONSIVE_DYSTONIA_DUE_TO_SEPIAPTERIN_REDUCTASE_DEFICIENCY
SPRED1	LEGIUS_SYNDROME
SPRED2	SPRED2-related_Noonan_syndrome
SPRTN	PROGEROID_SYNDROME
SPRY1	SPRY1-associated_craniosynostosis_with_inner_ear_and_renal_anomalies
SPTAN1	SPTAN1-related_neurodevelopmental_disorder_with_epilepsy_and_spastic_paraplegia
SPTBN1	SPTBN1-related_developmental_disorder_(monoallelic)
SPTBN2	Infantile_ataxia_with_oculomotor_and_pyramidal_signs SCA14
SPTBN4	NEURODEVELOPMENTAL_DISORDER_WITH_HYPOTONIA,_NEUROPATHY,_AND_DEAFNESS
SPTLC2	NEUROPATHY,_HEREDITARY_SENSORY_AND_AUTONOMIC,_TYPE_IC
SQSTM1	Paget_disease_of_bone
SRCAP	FLOATING-HARBOR_SYNDROME SRCAP-related_Neurodevelopmental_Disorder
SRD5A3	CONGENITAL_DISORDERS_OF_GLYCOSYLATION
SRGAP3	SLIT-ROBO_RHO_GTPASE-ACTIVATING_PROTEIN_3
SRP54	Syndromic_neutropenia_with_Shwachman-Diamond-like_features
SRPX2	BILATERAL_PERISYLVIAN_POLYMICROGYRIA
SRRM2	SRRM2-related_developmental_disorder_(monoallelic)
SRSF1	SRSF1-related_developmental_disorder_(monoallelic)
SRY	46XY_SEX_REVERSAL_1
ST14	ICHTHYOSIS_AUTOSOMAL_RECESSIVE_WITH_HYPOTRICHOSIS
ST3GAL3	INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AUTOSOMAL_RECESSIVE_12
ST3GAL5	AMISH_INFANTILE_EPILEPSY_SYNDROME
STAC3	STAC3-associated_congenital_myopathy_and_malignant_hyperthermia
STAG1	STAG1_syndromic_intellectual_disability
STAG2	STAG2-related_developmental_delay_with_microcephaly_and_congenital_anomalies
STAMBP	MICROCEPHALY_CAPILLARY_MALFORMATION_(MIC-CAP)_SYNDROME
STAR	CHOLESTEROL_DESMOLASE-DEFICIENT_CONGENITAL_ADRENAL_HYPERPLASIA
STAT2	Recessive_gain_of_function_causing_increased_interferon_signalling Viral_induced_severe_multiorgan_dysfunction_associated_with_impaired_mitochondrial_fission
STAT5B	GROWTH_HORMONE_INSENSITIVITY_WITH_IMMUNODEFICIENCY
STIL	MICROCEPHALY_PRIMARY_TYPE_7
STIM1	TUBULAR-AGGREGATE_MYOPATHY
STK11	PANCREATIC_CANCER PEUTZ-JEGHERS_SYNDROME
STN1	SNT1-related_cerebroretinal_microangiopathy_with_calcifications_and_cysts
STRA6	STRA6-related_syndromic_microphthalmia
STRADA	Polyhydramnios,_megalencephaly,_and_symptomatic_epilepsy
STS	ICHTHYOSIS,_X-LINKED
STT3A	CONGENITAL_DISORDER_OF_GLYCOSYLATION,_TYPE_IW STT3A-related_type_I_congenital_disorder_of_glycosylation_with_neuromusculoskeletal_disease
STT3B	CONGENITAL_DISORDER_OF_GLYCOSYLATION,_TYPE_IX
STX1A	STX1A-associated_neurodevelopmental_disorder_with_epilepsy STX1A-associated_neurodevelopmental_disorder_without_epilepsy_
STX1B	GENERALIZED_EPILEPSY_WITH_FEBRILE_SEIZURES_PLUS,_TYPE_9
STXBP1	EPILEPTIC_ENCEPHALOPATHY_EARLY_INFANTILE_TYPE_4
SUCLG1	FATAL_INFANTILE_LACTIC_ACIDOSIS
SUFU	Joubert_Syndrome_with_Cranio-facial_and_Skeletal_Defects MEDULLOBLASTOMA,_ASSOCIATED_WITH_GORLIN_SYNDROME SUFU-related_Joubert_and_congenital_ocular_motor_apraxia
SUMF1	Multiple_sulphatase_deficiency SULFATIDOSIS,_JUVENILE,_AUSTIN_TYPE
SUMO1	CLEFT_LIP_+/-_CLEFT_PALATE
SUOX	Sulfite_oxidase_deficiency
SUPT16H	SUPT16H-related_neurodevelopmental_disorder
SURF1	LEIGH_SYNDROME
SUZ12	Weaver-like_overgrowth_syndrome
SYN1	EPILEPSY,_X-LINKED,_WITH_VARIABLE_LEARNING_DISABILITIES_AND_BEHAVIOR_DISORDERS
SYNCRIP	SYNCRIP-related_developmental_disorder_(monoallelic)
SYNE1	SPINOCEREBELLAR_ATAXIA,_AUTOSOMAL_RECESSIVE_8
SYNGAP1	INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_DOMINANT_TYPE_5
SYP	INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_SYP-RELATED
SYT1	INTELLECTUAL_DISABILITY
SYT2	SYT2-related_congenital_onset_presynaptic_myasthenic_syndrome
SZT2	INFANTILE_ENCEPHALOPATHY_WITH_EPILEPSY_AND_DYSMORPHIC_CORPUS_CALLOSUM
TAB2	CONGENITAL_HEART_DISEASE,_NONSYNDROMIC,_2
TAC3	HYPOGONADOTROPIC_HYPOGONADISM
TACO1	LEIGH_SYNDROME_DUE_TO_MITOCHONDRIAL_COMPLEX_IV_DEFICIENCY
TACR3	HYPOGONADOTROPIC_HYPOGONADISM
TACSTD2	Corneal_dystrophy,_gelatinous_drop-like
TAF1	Dysmorphic_Features,_Intellectual_Disability,_and_Neurological_Manifestations
TAF13	Autosomal-Recessive_Intellectual_Disability_and_Microcephaly
TAF1A	Syndromic_congenital_cataract
TAF2	AUTOSOMAL_RECESSIVE_INTELLECTUAL_DEVELOPMENTAL_DISORDER
TAF4	TAF4-related_neurodevelopmental_disorder
TAF8	TAF8-associated_neurodevelopmental_disorder
TAFAZZIN	BARTH_SYNDROME
TALDO1	Transaldolase_deficiency
TANC2	TANC2-related_neurodevelopmental_and_psychiatric_disorders
TANGO2	Infancy-Onset_Recurrent_Metabolic_Crises_with_Encephalocardiomyopathy
TAOK1	INTELLECTUAL_DISABILITY
TAP1	Bare_lymphocyte_syndrome_type_1
TAPT1	COMPLEX_LETHAL_OSTEOCHONDRODYSPLASIA Cataract
TARS1	Non-photosensitive_trichothiodystrophy
TASP1	TASP1-related_neurodevelopmental_disorder
TAT	TYROSINEMIA_TYPE_2
TBC1D20	Warburg_micro_syndrome_4
TBC1D23	Non-degenerative_Pontocerebellar_Hypoplasia
TBC1D24	DOORS_SYNDROME MYOCLONIC_EPILEPSY,_INFANTILE,_FAMILIAL
TBC1D2B	TBC1D2B-related_neurodevelopmental_disorder
TBC1D32	Ciliopathy_syndrome TBC1D32-related_ciliopathy
TBCD	Early-Onset_Neurodegenerative_Encephalopathy
TBCE	Early-Onset_Progressive_Encephalopathy_with_Distal_Spinal_Muscular_Atrophy HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM_SYNDROME
TBCK	Severe_Infantile_Syndromic_Encephalopathy
TBL1XR1	Intellectual_disability_with_autism_spectrum_disorder Pierpont_syndrome
TBR1	AUTISM
TBX1	22Q11.2_DELETION_SYNDROME
TBX15	Cousin_Syndrome;_Craniofacial_Dysmorphism,_Hypoplasia_of_Scapula_and_Pelvis,_and_Short_Stature
TBX18	CONGENITAL_ANOMALIES_OF_KIDNEY_AND_URINARY_TRACT_2
TBX20	ATRIAL_SEPTAL_DEFECT_TYPE_4
TBX22	ABRUZZO-ERICKSON_SYNDROME CLEFT_PALATE,_X-LINKED
TBX3	ULNAR-MAMMARY_SYNDROME
TBX4	Posterior_Amelia_with_Pelvic_and_Pulmonary_Hypoplasia SMALL_PATELLA_SYNDROME
TBX5	HOLT-ORAM_SYNDROME
TBXAS1	GHOSAL_HEMATODIAPHYSEAL_SYNDROME
TCEAL1	TCEAL1-related_neurodevelopmental_disorder_
TCF12	TCF12-related_neurodevelopmental_disorder_with_coronal_craniosynostosis
TCF20	TCF20_syndrome
TCF4	Corneal_dystrophy,_Fuchs_endothelial,_3 PITT-HOPKINS_SYNDROME
TCF7L2	TCF7L2-related_developmental_disorder_(monoallelic)
TCN2	Transcobalamin_II_deficiency
TCOF1	TREACHER_COLLINS_SYNDROME_TYPE_1
TCTN1	JOUBERT_SYNDROME_AND_RELATED_DISORDERS
TCTN2	JOUBERT_SYNDROME_AND_RELATED_DISORDERS
TCTN3	MOHR-MAJEWSKI_SYNDROME
TDP2	TDP2-related_spinocerebellar_ataxia_with_seizures_and_developmental_delay
TDRD7	TDRD7-related_cataract_with_or_without_azoospermia
TEAD1	Sveinsson_chorioretinal_atrophy
TECPR2	HEREDITARY_SPASTIC_PARAPARESIS
TECRL	TECRL-related_CPVT
TEK	Primary_congenital_glaucoma VENOUS_MALFORMATIONS,_MULTIPLE_CUTANEOUS_AND_MUCOSAL
TELO2	TELO2_Syndromic_Intellectual_Disability_Disorder
TENM3	Colobomatous_microphthalmia
TERC	TERC-related_dyskeratosis_congenita
TERT	Dyskeratosis_Congenita TERT-related_Dyskeratosis_congenita
TET3	TET3_DNA_Demethylation_Disorder_biallelic TET3_DNA_Demethylation_Disorder_monoallelic
TFAP2A	BRANCHIOOCULOFACIAL_SYNDROME
TFAP2B	CHAR_SYNDROME
TFE3	TFE3-related_intellectual_disability_with_pigmentary_mosaicism_and_coarse_features
TFR2	Haemochromatosis_type_3
TFRC	Combined_immunodeficiency
TGDS	CATEL-MANZKE_SYNDROME
TGFB1	CAMURATI-ENGELMANN_DISEASE
TGFB2	LOEYS-DIETZ_SYNDROME,_TYPE_4
TGFB3	LOEYS-DIETZ_SYNDROME
TGFBI	Granular_corneal_dystrophy,_type_I Granular_corneal_dystrophy,_type_II Lattice_corneal_dystrophy_type_1 Reis-Bucklers_corneal_dystrophy Thiel-Behnke_corneal_dystrophy
TGFBR1	Epithelioma,_Ferguson-Smith_(multiple_self_healing_squamous_epithelioma) LOEYS-DIETZ_SYNDROME Multiple_self-healing_squamous_epithelioma,_susceptibility_to
TGFBR2	LOEYS-DIETZ_SYNDROME Loeys-Dietz_syndrome_2
TGIF1	HOLOPROSENCEPHALY
TGM1	Congenital_ichthyosis_type_1
TGM5	Peeling_skin_syndrome,_acral_type
TH	DOPA-RESPONSIVE_DYSTONIA
THAP1	DYSTONIA_6,_TORSION
THG1L	THG1L-associated_cerebellar_ataxia
THOC2	INTELLECTUAL_DEVELOPMENTAL_DISORDER,_X-LINKED_12
THOC6	Beaulieu-Boycott-Innes_syndrome
THRA	HYPOTHYROIDISM,_CONGENITAL,_NONGOITROUS,_6
THUMPD1	THUMPD1_neurodevelopment_disorder
TIMM8A	JENSEN_SYNDROME MOHR-TRANEBJAERG_SYNDROME
TIMP3	Sorsby_fundus_dystrophy
TINF2	Dyskeratosis_congenita,_autosomal_dominant EXUDATIVE_RETINOPATHY_WITH_BONE_MARROW_FAILURE
TK2	MITOCHONDRIAL_DNA_DEPLETION_SYNDROME,_MYOPATHIC_FORM
TKFC	TKFC-related_Cataracts_and_Multisystem_Disease
TKT	Short_Stature,_Developmental_Delay,_and_Congenital_Heart_Defects
TLK2	TLK2_syndrome
TLL1	ATRIAL_SEPTAL_DEFECT_TYPE_6
TM4SF20	SPECIFIC_LANGUAGE_IMPAIRMENT_5
TMC6	Epidermodysplasia_verruciformis
TMC8	Epidermodysplasia_verruciformis
TMCO1	CRANIOFACIAL_DYSMORPHISM,_SKELETAL_ANOMALIES,_AND_INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROME
TMEM106B	TMEM106B_related_hypomyelinating_leukodystrophy
TMEM114	CONGENITAL_AND_JUVENILE_CATARACT
TMEM126A	Optic_atrophy
TMEM126B	Muscle_Weakness_and_Isolated_Complex_I_Deficiency
TMEM127	PHEOCHROMOCYTOMA,_SUSCEPTIBILITY_TO
TMEM135	AUTOSOMAL_RECESSIVE_INTELLECTUAL_DEVELOPMENTAL_DISORDER
TMEM138	Joubert_syndrome_16
TMEM147	TMEM147-related_developmental_disorder
TMEM163	TMEM163-related_hypomyelinating_leukodystrophy_
TMEM165	CONGENITAL_DISORDER_OF_GLYCOSYLATION,_TYPE_IIK
TMEM199	CONGENITAL_DISORDER_OF_GLYCOSYLATION
TMEM216	JOUBERT_SYNDROME_2
TMEM218	TMEM218-associated_ciliopathy
TMEM222	TMEM222-related_Neurodevelopmental_disorder_with_motor_and_speech_delay_and_behavioral_abnormalities
TMEM231	Joubert_syndrome_20
TMEM237	JOUBERT_SYNDROME_14
TMEM240	TMEM240-associated_spinocerebellar_ataxia_and_intellectual_disability
TMEM260	Neurodevelopmental,_Cardiac,_and_Renal_Syndrome
TMEM43	TMEM43-related__ARVC
TMEM63A	Transient_Hypomyelination_during_Infancy
TMEM63B	TMEM63B-related_developmental_and_epileptic_encephalopathy_with_anaemia
TMEM63C	TMEM63C-associated_hereditary_spastic_paraplegia
TMEM67	COACH_SYNDROME NEPHRONOPHTHISIS_TYPE_11
TMEM70	MITOCHONDRIAL_COMPLEX_V_(ATP_SYNTHASE)_DEFICIENCY,_NUCLEAR_TYPE_2
TMEM94	Neurodevelopmental_Delay_Congenital_Heart_Defects_and_Distinct_Facial_Dysmorphism
TMEM98	NANOPHTHALMOS
TMPRSS6	IRON-REFRACTORY_IRON_DEFICIENCY_ANEMIA
TMTC3	Cobblestone_Lissencephaly
TMX2	Primary_microcephaly,_cortical_malformation_and_epileptic_encephalopathy
TNFRSF13B	IMMUNODEFICIENCY,_COMMON_VARIABLE,_2
TNFRSF1A	Periodic_fever,_familial,_autosomal_dominant
TNNC1	TNNC1-related_DCM
TNNI3	TNNI3-related_HCM
TNNT2	TNNT2-related_DCM TNNT2-related_HCM
TNNT3	TNNT3-associated_congenital_myopathy_(biallelic)
TNPO2	TNPO2-related_intellectual_disability
TNRC6B	TNRC6B-related_neurodevelopmental_disorder
TNXB	Classical-like_Ehlers_Danlos_syndrome
TOE1	PONTOCEREBELLAR_HYPOPLASIA
TOGARAM1	TOGARAM1-related_ciliopathy
TOP3A	Bloom_Syndrome_like_Disorder
TOPORS	Retinitis_pigmentosa_31
TOR1A	TOR1A-associated_arthrogryposis_multiplex_congenita_(AR)
TP53	LI-FRAUMENI_SYNDROME
TP53RK	GALLOWAY-MOWAT_SYNDROME_4
TP63	ADULT_SYNDROME ECTODERMAL_DYSPLASIA_RAPP-HODGKIN_TYPE LIMB-MAMMARY_SYNDROME RAPP-HODGKIN_SYNDROME TP63-related_ectrodactyly,_ectodermal_dysplasia,_and_cleft_lip/palate_syndrome
TP73	TP73-related_ciliary_dyskinesia_and_lissencephaly
TPM1	TPM1-related_HCM
TPM2	ARTHROGRYPOSIS,_DISTAL,_TYPE_1
TPM3	Nemaline/Cap_myopathy
TPP1	TPP1-related_neuronal_ceroid_lipofuscinosis
TPP2	TPP2-related_immune_deficiency,_autoimmune_disease_and_intellectual_disability
TPRKB	GALLOWAY-MOWAT_SYNDROME_5
TRA2B	TRA2B-associated_neurodevelopmental_syndrome
TRAF3IP1	Senior-Loken_syndrome_9
TRAF7	Developmental_Delay_Congenital_Anomalies_and_Dysmorphic_Features
TRAIP	PRIMORDIAL_DWARFISM
TRAPPC10	TRAPPC10-associated_intellectual_disability
TRAPPC11	MUSCULAR_DYSTROPHY,_LIMB-GIRDLE,_TYPE_2S
TRAPPC12	Progressive_Childhood_Encephalopathy_and_Golgi_Dysfunction
TRAPPC2	SPONDYLOEPIPHYSEAL_DYSPLASIA_TARDA
TRAPPC2L	TRAPPC2L-related_Encephalopathy,_progressive,_early-onset,_with_episodic_rhabdomyolysis
TRAPPC4	Neurodevelopmental_disorder_with_epilepsy,_spasticity,_and_brain_atrophy
TRAPPC9	INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_RECESSIVE_TYPE_13
TRDN	TRDN-related_CPVT TRDN-related_LQTS
TREX1	AICARDI-GOUTIERES_SYNDROME_1,_DOMINANT_AND_RECESSIVE
TRIM28	Wilms_tumour
TRIM32	BARDET-BIEDL_SYNDROME_TYPE_11 LIMB-GIRDLE_MUSCULAR_DYSTROPHY_TYPE_2H
TRIM37	MULIBREY_NANISM
TRIM44	Aniridia_3
TRIM8	TRIM8-related_neurodevelopmental_disorder
TRIO	INTELLECTUAL_DISABILITY
TRIP11	ACHONDROGENESIS_TYPE_1A
TRIP12	TRIP12-related_intellectual_disability_with/without_autism_spectrum_disorder
TRIP13	Mosaic_Variegated_Aneuploidy_and_Wilms_Tumour
TRIP4	Prenatal_Spinal_Muscular_Atrophy_and_Congenital_Bone_Fractures
TRIT1	tRNA_isopentenyltransferase_deficiency
TRMT1	AUTOSOMAL_RECESSIVE_INTELLECTUAL_DEVELOPMENTAL_DISORDER
TRMT10A	INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AUTOSOMAL_RECESSIVE_68
TRMT10C	Mitochondrial_RNA_Processing_and_Multiple_Respiratory_Chain_Deficiencies
TRNT1	Hypogammaglobulinemia,_short_stature_with_microcephaly,_cataract,_and_inner_retinal_dysfunction Retinitis_pigmentosa_and_erythrocytic_microcytosis
TRPC5	TRPC5-related_neurodevelopmental_disorder
TRPM1	NIGHT_BLINDNESS,_CONGENITAL_STATIONARY,_TYPE_1C Night_blindness,_congenital_stationary_(complete),_1C,_autosomal_recessive
TRPM3	TRPM3-related_developmental_disorder_(monoallelic)
TRPS1	TRICHO-RHINO-PHALANGEAL_SYNDROME_TYPE_1 Trichorhinopharangeal_syndrome_I
TRPV3	OLMSTED_SYNDROME
TRPV4	METATROPIC_DYSPLASIA SPONDYLOMETAPHYSEAL_DYSPLASIA,_KOZLOWSKI_TYPE
TRPV6	Transient_Neonatal_Hyperparathyroidism
TRRAP	Autism_and_Syndromic_Intellectual_Disability
TSC1	TSC1-related_tuberous_sclerosis
TSC2	TSC2-related_tuberous_sclerosis
TSEN15	Pontocerebellar_Hypoplasia_and_Progressive_Microcephaly
TSEN2	PONTOCEREBELLAR_HYPOPLASIA_TYPE_2_AND_TYPE_4
TSEN34	PONTOCEREBELLAR_HYPOPLASIA_TYPE_2_AND_TYPE_4
TSEN54	PONTOCEREBELLAR_HYPOPLASIA_TYPE_2_AND_TYPE_4
TSHB	HYPOTHRYOIDISM,_CONGENITAL,_NONGOITROUS_4
TSHR	HYPERTHYROIDISM,_FAMILIAL_GESTATIONAL HYPOTHYROIDISM,_CONGENITAL,_NONGOITROUS,_1
TSHZ1	AURAL_ATRESIA,_CONGENITAL
TSPAN12	EXUDATIVE_VITREORETINOPATHY_5
TSPAN7	INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_58
TSPEAR	TSPEAR-related_ectodermal_dysplasia_and_tooth_agenesis
TTC12	TTC12-related_Primary_Ciliary_Dyskinesia
TTC19	MITOCHONDRIAL_COMPLEX_III_DEFICIENCY
TTC5	TTC5-associated_neurodevelopmental_disorder
TTC7A	INTESTINAL_ATRESIA,_MULTIPLE
TTC8	BARDET-BIEDL_SYNDROME_TYPE_8 TTC8-related_retinitis_pigmentosa
TTI1	TTI1-related_microcephaly,_intellectual_disability_and_ataxia
TTI2	AUTOSOMAL_RECESSIVE_INTELLECTUAL_DEVELOPMENTAL_DISORDER
TTLL5	Cone-rod_dystrophy_19
TTN	Autosomal_recessive_titinopathy_with_arthrogryposis_and/or_myopathy_ TTN-related_DCM
TTPA	Vitamin_E,_familial_isolated_deficiency_of
TTR	TTR-related_hereditary_ATTR_amyloidosis
TUB	Retinal_dystrophy_and_obesity
TUBA1A	TUBA1A-associated_tubulinopathy
TUBA8	POLYMICROGYRIA_WITH_OPTIC_NERVE_HYPOPLASIA
TUBB	CORTICAL_DYSPLASIA,_COMPLEX,_WITH_OTHER_BRAIN_MALFORMATIONS_6 Circumferential_Skin_Creases_Kunze_Type
TUBB2A	CORTICAL_DYSPLASIA,_COMPLEX,_WITH_OTHER_BRAIN_MALFORMATIONS_5
TUBB2B	Cortical_dysplasia,_complex,_with_other_brain_malformations_7 POLYMICROGYRIA_ASYMMETRIC
TUBB3	CORTICAL_DYSPLASIA,_COMPLEX,_WITH_OTHER_BRAIN_MALFORMATIONS_1 Fibrosis_of_extraocular_muscles,_congenital,_3A
TUBB4A	HYPOMYELINATION_WITH_ATROPHY_OF_THE_BASAL_GANGLIA_AND_CEREBELLUM
TUBG1	Posteriorly_predominant_pachygyria_and_severe_microcephaly
TUBGCP2	Microcephaly_and_Lissencephaly_Spectrum_Disorders
TUBGCP4	AUTOSOMAL-RECESSIVE_MICROCEPHALY_WITH_CHORIORETINOPATHY. Microcephaly_and_chorioretinopathy,_autosomal_recessive,_3
TUBGCP6	MICROCEPHALY_AND_CHORIORETINOPATHY_WITH_OR_WITHOUT_INTELLECTUAL_DEVELOPMENTAL_DISORDER Microcephaly_and_chorioretinopathy,_autosomal_recessive,_1
TUFM	COMBINED_OXIDATIVE_PHOSPHORYLATION_DEFICIENCY_4
TULP1	Retinitis_pigmentosa_14
TUSC3	INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_RECESSIVE_TYPE_7
TWIST1	SAETHRE-CHOTZEN_SYNDROME
TWIST2	ABLEPHARON_MACROSTOMIA_SYNDROME SETLEIS_SYNDROME
TXNL4A	BURN_MCKEOWN_SYNDROME
TYR	OCULOCUTANEOUS_ALBINISM_TYPE_1
TYRP1	Albinism_(oculo-cutaneous_type_3) OCULOCUTANEOUS_ALBINISM_TYPE_3
U2AF2	U2AF2-related_neurodevelopmental_disorder
UBA5	Severe_Infantile-Onset_Encephalopathy
UBAP2L	UBAP2L-associated_neurodevelopmental_disorder
UBE2A	UBE2A-RELATED_X-LINKED_SYNDROMIC_INTELLECTUAL_DEVELOPMENTAL_DISORDER
UBE2T	FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_T
UBE3A	ANGELMAN_SYNDROME
UBE3B	BLEPHAROPHIMOSIS-INTELLECTUAL_DEVELOPMENTAL_DISORDER Kaufman_oculocerebrofacial_syndrome
UBE3C	UBE3C-related_neurodevelopmental_disorder_with_absent_speech_and_movement_and_behavioural_abnormalities
UBE4A	UBE4A-associated_neurodevelopmental_disorder
UBIAD1	Schyder_corneal_dystrophy
UBR1	JOHANSON-BLIZZARD_SYNDROME
UBR7	AUTOSOMAL_RECESSIVE_INTELLECTUAL_DEVELOPMENTAL_DISORDER
UBTF	Childhood-Onset_Neurodegeneration
UFC1	Severe_early-onset_encephalopathy_with_progressive_microcephaly
UFM1	Severe_early-onset_encephalopathy_with_progressive_microcephaly,
UFSP2	UFSP2-associated_developmental_delay_and_epilepsy
UGP2	UGP2_Epileptic_Encephalopathy
UGT1A1	CRIGLER-NAJJAR_SYNDROME,_TYPE_I
UHRF1	UHRF1-related_immunodeficiency-centromeric_instability-facial_anomalies_syndrome
UMPS	OROTIC_ACIDURIA_TYPE_1
UNC119	Cone-rod_dystrophy
UNC45A	Osteootohepatoenteric_syndrome
UNC45B	Cataract_43 UNC45B-associated_Progressive_Myopathy_with_Eccentric_Cores
UNC80	Persistent_Hypotonia,_Encephalopathy,_Growth_Retardation,_and_Severe_Intellectual_Disability
UPF1	UPF1-related_developmental_disorder_(monoallelic)
UPF3B	INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROMIC_X-LINKED_TYPE_14
UQCRB	MITOCHONDRIAL_RESPIRATORY_CHAIN_COMPLEX_III_DEFICIENCY,_UQCRB-RELATED
UQCRFS1	Mitochondrial_Complex_III_Deficiency,_Cardiomyopathy,_and_Alopecia_Totalis
UQCRQ	MITOCHONDRIAL_RESPIRATORY_CHAIN_COMPLEX_III_DEFICIENCY,_UQCRQ_RELATED
UROC1	UROCANASE_DEFICIENCY
UROS	CONGENITAL_ERYTHROPOIETIC_PORPHYRIA
USB1	Poikiloderma_with_neutropenia
USH1C	Usher_syndrome,_type_1C
USH1G	Usher_syndrome,_type_1G
USH2A	Usher_syndrome,_type_2A
USP14	DISTAL_ARTHROGRYPOSIS
USP18	Severe_pseudo-TORCH_syndrome
USP27X	INTELLECTUAL_DISABILITY
USP45	LEBER_CONGENITAL_AMAUROSIS
USP7	USP7-related_developmental_disorder_(monoallelic)
USP9X	INTELLECTUAL_DEVELOPMENTAL_DISORDER,_X-LINKED_99 INTELLECTUAL_DEVELOPMENTAL_DISORDER,_X-LINKED_99;_MRX99
UTP4	NORTH_AMERICAN_INDIAN_CHILDHOOD_CIRRHOSIS
UVSSA	UV-SENSITIVE_SYNDROME
VAC14	Progressive_neurological_disorder_and_regression_of_developmental_milestones
VAMP2	INTELLECTUAL_DISABILITY
VANGL1	NEURAL_TUBE_DEFECTS
VAX1	Microphthalmia,_syndromic_11
VCAN	Wagner_syndrome_1
VCP	VCP-related_developmental_disorder_(monoallelic)
VDR	RICKETS_VITAMIN_D-DEPENDENT_TYPE_2A
VHL	Pheochromocytoma VON_HIPPEL-LINDAU_SYNDROME
VIM	Congenital_cataract
VIP	ASPERGER
VIPAS39	ARTHROGRYPOSIS,_RENAL_DYSFUNCTION,_AND_CHOLESTASIS_2
VLDLR	CEREBELLAR_ATAXIA_INTELLECTUAL_DEVELOPMENTAL_DISORDER_AND_DYSEQUILIBRIUM_SYNDROME_TYPE_1
VPS13B	COHEN_SYNDROME
VPS33B	ARTHROGRYPOSIS,_RENAL_DYSFUNCTION,_AND_CHOLESTASIS_1
VPS4A	CIMDAG_Syndrome,_biallelic CIMDAG_Syndrome,_monoallelic
VPS53	Progressive_cerebella-cerebral_atrophy_type_2
VRK1	PONTOCEREBELLAR_HYPOPLASIA_TYPE_1
VSX1	Craniofacial_anomalies_and_anterior_segment_dysgenesis_syndrome Keratoconus_1
VSX2	MICROPHTHALMIA_ISOLATED_TYPE_2 MICROPHTHALMIA_WITH_CATARACTS_AND_IRIS_ABNORMALITIES
WAC	Desanto-Shinawi_syndrome
WARS1	Distal_hereditary_motor_neuropathy WARS1-associated_neurodevelopmental_syndrome
WASF1	Intellectual_Disability_with_Seizures
WASHC5	WASHC5-associated_intellectual_disability,_congenital_cardiac_malformation_and_Dandy-Walker_malformation
WDFY3	Primary_Microcephaly_or_macrocephaly_with_developmental_delay
WDPCP	BARDET-BIEDL_SYNDROME_TYPE_15
WDR11	WDR11-associated_intellectual_disability_and_microcephaly
WDR19	ASPHYXIATING_THORACIC_DYSTROPHY_5 CRANIOECTODERMAL_DYSPLASIA_4 SHORT-RIB_THORACIC_DYSPLASIA_5_WITH_OR_WITHOUT_POLYDACTYLY
WDR26	Intellectual_Disability,_Seizures,_Abnormal_Gait,_and_Distinctive_Facial_Features
WDR35	CRANIOECTODERMAL_DYSPLASIA_2
WDR37	SYNDROMIC_INTELLECTUAL_DISABILITY
WDR4	GALLOWAY-MOWAT_SYNDROME_6
WDR45	WDR45-RELATED_NEURODEGENERATION_WITH_BRAIN_IRON_ACCUMULATION
WDR45B	AUTOSOMAL_RECESSIVE_INTELLECTUAL_DEVELOPMENTAL_DISORDER
WDR5	WDR5-related_neurodevelopmental_disorder
WDR62	MICROCEPHALY_CORTICAL_MALFORMATIONS_AND_INTELLECTUAL_DEVELOPMENTAL_DISORDER
WDR73	GALLOWAY-MOWAT_SYNDROME:_MICROCEPHALY_AND_STEROID-RESISTANT_NEPHROTIC_SYNDROME
WDR81	CEREBELLAR_ATAXIA,_INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AND_DYSEQUILIBRIUM_SYNDROME_2
WDR87	Congenital_cataract
WFS1	Cataract_41 Neonatal/Infancy-Onset_Diabetes,_Congenital_Sensorineural_Deafness,_and_Congenital_Cataracts_Syndrome WOLFRAM_SYNDROME_1 Wolfram-like_syndrome,_autosomal_dominant Wolfram_syndrome
WHRN	Usher_syndrome,_type_2D
WNK1	Neuropathy,_hereditary_sensory_and_autonomic,_type_II
WNK3	WNK3-related_neurodevelopmental_disorder
WNT1	OSTEOGENESIS_IMPERFECTA
WNT10B	SPLIT-HAND/FOOT_MALFORMATION_TYPE_6
WNT3	TETRA-AMELIA_SYNDROME
WNT4	MULLERIAN_APLASIA_AND_HYPERANDROGENISM SERKAL_SYNDROME
WNT5A	WNT5A-RELATED_ROBINOW_SYNDROME,_AUTOSOMAL_DOMINANT
WNT7A	WNT7A-_associated_skeletal_malformations_syndrome
WNT7B	WNT7B-related_PDAC_syndrome
WRAP53	DYSKERATOSIS_CONGENITA,_AUTOSOMAL_RECESSIVE_3 Dyskeratosis_congenita,_autosomal_recessive
WRN	WERNER_SYNDROME
WT1	DENYS-DRASH_SYNDROME FAMILIAL_WILMS_TUMOUR
WWOX	EPILEPTIC_ENCEPHALOPATHY,_EARLY_INFANTILE,_28 SPINOCEREBELLAR_ATAXIA,_AUTOSOMAL_RECESSIVE_12
XPA	XERODERMA_PIGMENTOSUM,_GROUP_A
XPC	XERODERMA_PIGMENTOSUM,_GROUP_C
XPNPEP3	NEPHRONOPHTHISIS-LIKE_NEPHROPATHY_TYPE_1
XRCC4	PRIMORDIAL_DWARFISM
XYLT1	Baratela_Scott_Syndrome DESBUQUOIS_DYSPLASIA_2
XYLT2	SPONDYLOOCULAR_SYNDROME
YAP1	COLOBOMA,_OCULAR,_WITH_OR_WITHOUT_HEARING_IMPAIRMENT,_CLEFT_LIP/PALATE,_AND/OR_INTELLECTUAL_DEVELOPMENTAL_DISORDER
YARS2	MYOPATHY,_LACTIC_ACIDOSIS,_AND_SIDEROBLASTIC_ANEMIA_2
YRDC	YRDC-associated_nephrotic_syndrome_and_microcephaly
YWHAE	YWHAE-related_developmental_delay,_seizures,_hypotonia_and_brain_abnormalities
YWHAG	Early-Onset_Epilepsy
YWHAZ	YWHAZ-related_developmental_delay_with_simplified_gyral_pattern
YY1	INTELLECTUAL_DISABILITY
ZBTB11	ZBTB11-related_neurodevelopmental_disorder_with_or_without_cataracts_and_movement_disorder
ZBTB16	SKELETAL_DEFECTS_GENITAL_HYPOPLASIA_AND_INTELLECTUAL_DEVELOPMENTAL_DISORDER
ZBTB18	ZBTB18_syndrome
ZBTB20	PRIMROSE_SYNDROME
ZBTB40	AUTOSOMAL_RECESSIVE_INTELLECTUAL_DEVELOPMENTAL_DISORDER
ZBTB47	ZBTB47-related_developmental_delay,_intellectual_disability,_hypotonia_and_seizures
ZBTB7A	ZBTB7A-associated_developmental_disorder
ZC4H2	ARTHROGRYPOSIS_MULTIPLEX_CONGENITA_AND_INTELLECTUAL_DISABILITY ARTHROGRYPOSIS_MULTIPLEX_CONGENITA_AND_INTELLECTUAL_DISABILITY,_hemizygous
ZCCHC8	AUTOSOMAL_RECESSIVE_INTELLECTUAL_DEVELOPMENTAL_DISORDER
ZDHHC15	INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_91
ZDHHC9	INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROMIC_X-LINKED_ZDHHC9-RELATED
ZEB1	CORNEAL_DYSTROPHY_FUCHS_ENDOTHELIAL_TYPE_6 Corneal_dystrophy,_posterior_polymorphous,_3
ZEB2	MOWAT-WILSON_SYNDROME
ZFHX3	ZFHX3-related_neurodevelopmental_disorder
ZFHX4	ZFHX4-related_developmental_disorder_(monoallelic)
ZFP57	DIABETES_MELLITUS,_6Q24-RELATED_TRANSIENT_NEONATAL
ZFPM2	DIAPHRAGMATIC_HERNIA_3 ZFPM2-associated_malformation_syndrome
ZFYVE19	ZFYVE19-related_congenital_hepatic_fibrosis,_sclerosing_cholangiopathy_and_high-GGT_cholestasis
ZFYVE26	SPASTIC_PARAPLEGIA_AUTOSOMAL_RECESSIVE_TYPE_15
ZIC1	CRANIOSYNOSTOSIS_6
ZIC2	HOLOPROSENCEPHALY
ZIC3	HETEROTAXY_SYNDROME VACTERL_ASSOCIATION,_X-LINKED,_WITH_OR_WITHOUT_HYDROCEPHALUS
ZMIZ1	Syndromic_Neurodevelopmental_Disorder
ZMPSTE24	LETHAL_RESTRICTIVE_DERMOPATHY,_ZMPSTE24-RELATED
ZMYM2	ZMYM2-related_developmental_disorder_(monoallelic)
ZMYM3	ZMYM3-related_neurodevelopmental_disorder
ZMYM6	INTELLECTUAL_DISABILITY
ZMYND10	PRIMARY_CILIARY_DYSKINESIA-22
ZMYND11	INTELLECTUAL_DISABILITY
ZMYND8	ZMYND8-related_neurodevelopmental_disorder
ZNF142	ZNF142-related_neurodevelopmental_disorder
ZNF148	ZNF148-related_neurodevelopmental_disorder
ZNF292	ZNF292-related_developmental_disorder_(monoallelic)
ZNF407	ZNF407-related_Neurodevelopmental_Disorder
ZNF408	EXUDATIVE_VITREORETINOPATHY_6 RETINITIS_PIGMENTOSA_72
ZNF423	JOUBERT_SYNDROME
ZNF462	Craniofacial_anomalies,_corpus_callosum_dysgenesis,_ptosis,_and_developmental_delay
ZNF469	Brittle_cornea_syndrome_1
ZNF513	Retinitis_pigmentosa
ZNF526	AUTOSOMAL_RECESSIVE_INTELLECTUAL_DEVELOPMENTAL_DISORDER
ZNF599	NOT_IN_OMIM
ZNF711	INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_ZNF711-RELATED
ZNF713	AUTISM
ZNF750	SEBORRHEA-LIKE_DERMATITIS_WITH_PSORIASIFORM_ELEMENTS
ZNF808	ZNF808-related_pancreatic_agenesis
ZSWIM6	ACROMELIC_FRONTONASAL_DYSOSTOSIS