Phenotype: Young adult onset (HP:0011462)
Associated genes and diseases:
gene_symbol: RBM20
disease_id: OMIM:613172
disease_name: CARDIOMYOPATHY, DILATED, 1DD
gene_symbol: ZSWIM7
disease_id: OMIM:619831
disease_name: SPERMATOGENIC FAILURE 71
gene_symbol: SGO1
disease_id: OMIM:616201
disease_name: CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA
gene_symbol: PLN
disease_id: OMIM:609909
disease_name: CARDIOMYOPATHY, DILATED, 1P
gene_symbol: BBS2
disease_id: OMIM:616562
disease_name: RETINITIS PIGMENTOSA 74
gene_symbol: BBS2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: NLRP3
disease_id: OMIM:617772
disease_name: DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION
gene_symbol: NLRP3
disease_id: OMIM:148200
disease_name: KERATOENDOTHELIITIS FUGAX HEREDITARIA
gene_symbol: TECRL
disease_id: OMIM:614021
disease_name: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3
gene_symbol: F5
disease_id: OMIM:614389
disease_name: PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1
gene_symbol: MORC2
disease_id: OMIM:616688
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z
gene_symbol: CASK
disease_id: OMIM:300908
disease_name: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
gene_symbol: G6PD
disease_id: OMIM:300908
disease_name: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
gene_symbol: VCP
disease_id: OMIM:616687
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y
gene_symbol: LAMA4
disease_id: OMIM:615235
disease_name: CARDIOMYOPATHY, DILATED, 1JJ
gene_symbol: MFN2
disease_id: OMIM:151800
disease_name: LIPOMATOSIS, MULTIPLE SYMMETRIC, WITH OR WITHOUT AXONAL PERIPHERAL NEUROPATHY
gene_symbol: MFN2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SMN1
disease_id: OMIM:271150
disease_name: SPINAL MUSCULAR ATROPHY, TYPE IV
gene_symbol: DNHD1
disease_id: OMIM:619712
disease_name: SPERMATOGENIC FAILURE 65
gene_symbol: STT3A
disease_id: OMIM:619714
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT
gene_symbol: DYSF
disease_id: OMIM:253601
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2
gene_symbol: DYSF
disease_id: OMIM:606768
disease_name: MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET
gene_symbol: HJV
disease_id: OMIM:602390
disease_name: HEMOCHROMATOSIS, TYPE 2A
gene_symbol: LMNA
disease_id: OMIM:181350
disease_name: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT
gene_symbol: LMNA
disease_id: OMIM:151660
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
gene_symbol: LMNA
disease_id: OMIM:115200
disease_name: CARDIOMYOPATHY, DILATED, 1A
gene_symbol: HCN4
disease_id: OMIM:163800
disease_name: SICK SINUS SYNDROME 2
gene_symbol: IFT140
disease_id: OMIM:617781
disease_name: RETINITIS PIGMENTOSA 80
gene_symbol: IFT140
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: NPHP1
disease_id: OMIM:266900
disease_name: SENIOR-LOKEN SYNDROME 1
gene_symbol: NPHP1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: F2
disease_id: OMIM:614390
disease_name: PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2
gene_symbol: MEFV
disease_id: OMIM:249100
disease_name: FAMILIAL MEDITERRANEAN FEVER
gene_symbol: ANXA5
disease_id: OMIM:614391
disease_name: PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3
gene_symbol: DIABLO
disease_id: OMIM:614152
disease_name: DEAFNESS, AUTOSOMAL DOMINANT 64
gene_symbol: PDGFB
disease_id: OMIM:615483
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5
gene_symbol: CTSF
disease_id: OMIM:615362
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 13
gene_symbol: ACTC1
disease_id: OMIM:612098
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11
gene_symbol: ACTC1
disease_id: OMIM:613424
disease_name: CARDIOMYOPATHY, DILATED, 1R
gene_symbol: MYPN
disease_id: OMIM:615248
disease_name: CARDIOMYOPATHY, DILATED, 1KK
gene_symbol: YEATS2
disease_id: OMIM:615127
disease_name: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 4
gene_symbol: EXTL3
disease_id: OMIM:617425
disease_name: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES
gene_symbol: CLN6
disease_id: OMIM:204300
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE
gene_symbol: CLDN16
disease_id: OMIM:248250
disease_name: HYPOMAGNESEMIA 3, RENAL
gene_symbol: PDGFRB
disease_id: OMIM:615007
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4
gene_symbol: CC2D2A
disease_id: OMIM:619845
disease_name: RETINITIS PIGMENTOSA 93
gene_symbol: CC2D2A
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: WRN
disease_id: OMIM:277700
disease_name: WERNER SYNDROME
gene_symbol: PNPLA6
disease_id: OMIM:275400
disease_name: OLIVER-MCFARLANE SYNDROME
gene_symbol: PNPLA6
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SLC4A11
disease_id: OMIM:217400
disease_name: CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS
gene_symbol: TTBK2
disease_id: OMIM:604432
disease_name: SPINOCEREBELLAR ATAXIA 11
gene_symbol: SYCP2
disease_id: OMIM:258150
disease_name: SPERMATOGENIC FAILURE 1
gene_symbol: ATP6V0A1
disease_id: OMIM:619971
disease_name: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY
gene_symbol: SFTPA1
disease_id: OMIM:619611
disease_name: INTERSTITIAL LUNG DISEASE 1
gene_symbol: DNAH17
disease_id: OMIM:618643
disease_name: SPERMATOGENIC FAILURE 39
gene_symbol: ARHGEF18
disease_id: OMIM:617433
disease_name: RETINITIS PIGMENTOSA 78
gene_symbol: ARHGEF18
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RRM2B
disease_id: OMIM:613077
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5
gene_symbol: PRDM16
disease_id: OMIM:615373
disease_name: LEFT VENTRICULAR NONCOMPACTION 8
gene_symbol: CCIN
disease_id: OMIM:620838
disease_name: SPERMATOGENIC FAILURE 91
gene_symbol: ZNF408
disease_id: OMIM:616469
disease_name: RETINITIS PIGMENTOSA 72
gene_symbol: ZNF408
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: LRRC23
disease_id: OMIM:620848
disease_name: SPERMATOGENIC FAILURE 92
gene_symbol: VSX1
disease_id: OMIM:148300
disease_name: KERATOCONUS 1
gene_symbol: MBD4
disease_id: OMIM:619975
disease_name: TUMOR PREDISPOSITION SYNDROME 2
gene_symbol: HKDC1
disease_id: OMIM:619614
disease_name: RETINITIS PIGMENTOSA 92
gene_symbol: SYCP2L
disease_id: OMIM:620840
disease_name: PREMATURE OVARIAN FAILURE 24
gene_symbol: ALDH18A1
disease_id: OMIM:601162
disease_name: SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT
gene_symbol: SCN5A
disease_id: OMIM:601154
disease_name: CARDIOMYOPATHY, DILATED, 1E
gene_symbol: GCK
disease_id: OMIM:602485
disease_name: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3
gene_symbol: PRNP
disease_id: OMIM:603218
disease_name: HUNTINGTON DISEASE-LIKE 1
gene_symbol: CAV1
disease_id: OMIM:606721
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7
gene_symbol: CAV1
disease_id: OMIM:615343
disease_name: PULMONARY HYPERTENSION, PRIMARY, 3
gene_symbol: TBX3
disease_id: OMIM:181450
disease_name: ULNAR-MAMMARY SYNDROME
gene_symbol: PRDX3
disease_id: OMIM:619862
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 32
gene_symbol: ELMOD3
disease_id: OMIM:619500
disease_name: DEAFNESS, AUTOSOMAL DOMINANT 81
gene_symbol: POLRMT
disease_id: OMIM:619743
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55
gene_symbol: RET
disease_id: OMIM:171400
disease_name: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA
gene_symbol: C19orf12
disease_id: OMIM:614298
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
gene_symbol: STK33
disease_id: OMIM:620849
disease_name: OMIM:620849
gene_symbol: DHTKD1
disease_id: OMIM:615025
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q
gene_symbol: CCND1
disease_id: OMIM:193300
disease_name: VON HIPPEL-LINDAU SYNDROME
gene_symbol: VHL
disease_id: OMIM:193300
disease_name: VON HIPPEL-LINDAU SYNDROME
gene_symbol: SDHD
disease_id: OMIM:168000
disease_name: PARAGANGLIOMAS 1
gene_symbol: CHEK1
disease_id: OMIM:620610
disease_name: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 21
gene_symbol: TRRAP
disease_id: OMIM:618778
disease_name: DEAFNESS, AUTOSOMAL DOMINANT 75
gene_symbol: WDR19
disease_id: OMIM:619867
disease_name: SPERMATOGENIC FAILURE 72
gene_symbol: WDR19
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: BAG5
disease_id: OMIM:619747
disease_name: CARDIOMYOPATHY, DILATED, 2F
gene_symbol: GNPTAB
disease_id: OMIM:252600
disease_name: MUCOLIPIDOSIS III ALPHA/BETA
gene_symbol: CCDC146
disease_id: OMIM:620850
disease_name: OMIM:620850
gene_symbol: RPGR
disease_id: OMIM:304020
disease_name: CONE-ROD DYSTROPHY, X-LINKED, 1
gene_symbol: RPGR
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: NOTCH3
disease_id: OMIM:125310
disease_name: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
gene_symbol: ATP1A2
disease_id: OMIM:602481
disease_name: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
gene_symbol: WASHC5
disease_id: OMIM:603563
disease_name: SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT
gene_symbol: PRPF8
disease_id: OMIM:600059
disease_name: RETINITIS PIGMENTOSA 13
gene_symbol: PRPF8
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PPP2R3C
disease_id: OMIM:618420
disease_name: SPERMATOGENIC FAILURE 36
gene_symbol: PKD2
disease_id: OMIM:613095
disease_name: POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
gene_symbol: MAK
disease_id: OMIM:614181
disease_name: RETINITIS PIGMENTOSA 62
gene_symbol: MAK
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ANO3
disease_id: OMIM:615034
disease_name: DYSTONIA 24
gene_symbol: DNAH1
disease_id: OMIM:617576
disease_name: SPERMATOGENIC FAILURE 18
gene_symbol: DNA2
disease_id: OMIM:615156
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6
gene_symbol: CHD8
disease_id: OMIM:615032
disease_name: AUTISM, SUSCEPTIBILITY TO, 18
gene_symbol: PKHD1
disease_id: OMIM:263200
disease_name: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
gene_symbol: FLNC
disease_id: OMIM:614065
disease_name: MYOPATHY, DISTAL, 4
gene_symbol: FLNC
disease_id: OMIM:617047
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
gene_symbol: MYBPC3
disease_id: OMIM:615396
disease_name: LEFT VENTRICULAR NONCOMPACTION 10
gene_symbol: TTC21A
disease_id: OMIM:618429
disease_name: SPERMATOGENIC FAILURE 37
gene_symbol: MAFA
disease_id: OMIM:147630
disease_name: INSULINOMATOSIS AND DIABETES MELLITUS
gene_symbol: PLCZ1
disease_id: OMIM:617214
disease_name: SPERMATOGENIC FAILURE 17
gene_symbol: ARMC12
disease_id: OMIM:620744
disease_name: SPERMATOGENIC FAILURE 90
gene_symbol: ACR
disease_id: OMIM:620500
disease_name: SPERMATOGENIC FAILURE 87
gene_symbol: MOV10L1
disease_id: OMIM:619878
disease_name: SPERMATOGENIC FAILURE 73
gene_symbol: VPS11
disease_id: OMIM:619637
disease_name: DYSTONIA 32
gene_symbol: CASQ2
disease_id: OMIM:604772
disease_name: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
gene_symbol: TRDN
disease_id: OMIM:604772
disease_name: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
gene_symbol: RYR2
disease_id: OMIM:604772
disease_name: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
gene_symbol: CLCN1
disease_id: OMIM:255700
disease_name: MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE
gene_symbol: AIP
disease_id: OMIM:102200
disease_name: PITUITARY ADENOMA 1, MULTIPLE TYPES
gene_symbol: AAGAB
disease_id: OMIM:148600
disease_name: PALMOPLANTAR KERATODERMA, PUNCTATE TYPE IA
gene_symbol: TMEM43
disease_id: OMIM:604400
disease_name: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5
gene_symbol: WHRN
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: NR2F1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: VCAN
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ABCA4
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ABCA4
disease_id: OMIM:604116
disease_name: CONE-ROD DYSTROPHY 3
gene_symbol: BBS1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: OPN1SW
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: KCNJ13
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: KIZ
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: GUCA1B
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PRPS1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CHM
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: GPR179
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: LRIT3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: OFD1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CNNM4
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PRPF31
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PCARE
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CEP78
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CEP78
disease_id: OMIM:617236
disease_name: CONE-ROD DYSTROPHY AND HEARING LOSS 1
gene_symbol: DHX38
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: AMACR
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: AMACR
disease_id: OMIM:614307
disease_name: ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY
gene_symbol: TMEM126A
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: COL2A1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: COL2A1
disease_id: OMIM:604864
disease_name: OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA
gene_symbol: TRIM32
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TRIM32
disease_id: OMIM:254110
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8
gene_symbol: CRB1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: GUCA1A
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CTNNA1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CTNNA1
disease_id: OMIM:608970
disease_name: MACULAR DYSTROPHY, PATTERNED, 2
gene_symbol: RBP4
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RP1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: MKS1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: AHR
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TRAF3IP1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ARL2BP
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ARL2BP
disease_id: OMIM:615434
disease_name: RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS
gene_symbol: ARL3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CABP4
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: MYO7A
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ALMS1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TRNT1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: LZTFL1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: FAM161A
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SLC19A2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SLC19A2
disease_id: OMIM:249270
disease_name: THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME
gene_symbol: GNB3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CYP4V2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: GUCY2D
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: KIF11
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PRDM13
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: DHDDS
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CACNA1F
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ELOVL1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CA4
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: BBIP1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RPE65
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: DHX40
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PRPF4
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PRPF4
disease_id: OMIM:615922
disease_name: RETINITIS PIGMENTOSA 70
gene_symbol: IQCB1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RIMS2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: P4HA2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ABHD12
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ABHD12
disease_id: OMIM:612674
disease_name: POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT
gene_symbol: EFEMP1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: EFEMP1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: CEP19
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TULP1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PRCD
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: NPHP4
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: BBS4
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: BCOR
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ZNF513
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SLC7A14
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PPT1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: GNAT1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: FLVCR1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SDCCAG8
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TREX1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CDH3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ADGRA3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: KIAA1549
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: NMNAT1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: NEUROD1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TMEM237
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: LRAT
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PDZD7
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: USH1C
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CEP290
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: EMC1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: GDPD1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SEMA4A
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: OPA1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TMEM67
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: MERTK
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: MKKS
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ESPN
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ADIPOR1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TTPA
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SF3B2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ADGRV1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ACO2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PDE6B
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PEX2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ATF6
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CAPN5
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: IDH3B
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CTSD
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: IFT81
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: IFT43
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: DYNC2H1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: HMCN1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: USH1G
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: OTX2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RAB28
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: BBS12
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: KCNV2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TEAD1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: MTRFR
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: IMPG2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: IMPG2
disease_id: OMIM:616152
disease_name: MACULAR DYSTROPHY, VITELLIFORM, 5
gene_symbol: MFSD8
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: JAG1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SCO2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SMG8
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CNGA3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CACNA2D4
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PEX7
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: USH2A
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ARR3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: LRPAP1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RTN4IP1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ABCC6
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ZNF644
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: MAPKAPK3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: MAPKAPK3
disease_id: OMIM:617111
disease_name: MACULAR DYSTROPHY, PATTERNED, 3
gene_symbol: PDE6G
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TUBGCP4
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: OAT
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TMEM216
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PDE6A
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RP2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RP2
disease_id: OMIM:312600
disease_name: RETINITIS PIGMENTOSA 2
gene_symbol: PDE6C
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SLC25A46
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: DTHD1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TIMM8A
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TUBGCP6
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TOPORS
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PEX6
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: KIF3B
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CWC27
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TTLL5
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TTLL5
disease_id: OMIM:615860
disease_name: CONE-ROD DYSTROPHY 19
gene_symbol: FZD4
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CPSF1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RAX2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CPLANE1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PRPF3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CEP250
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: POC1B
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PRIMPOL
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: HARS1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RBP3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ALPK1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PDE6H
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CNGB3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ZNF423
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: AIPL1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CLCC1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PRPH2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TSPAN12
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PLK4
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: GRK1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: MTTP
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: GNAT2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TRPM1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: NBAS
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ADAM9
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: HK1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: HK1
disease_id: OMIM:617460
disease_name: RETINITIS PIGMENTOSA 79
gene_symbol: BBS9
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: USP45
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PAX6
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: NRL
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: NRL
disease_id: OMIM:613750
disease_name: RETINITIS PIGMENTOSA 27
gene_symbol: TUBB4B
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: LCA5
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: P3H2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CERKL
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CFAP410
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PDSS1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: FOXE3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CLRN1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SIX6
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RD3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RDH11
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ATXN7
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: WFS1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PGK1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PROM1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RCBTB1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: EXOSC2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RGS9
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CLUAP1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: KLHL7
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: KLHL7
disease_id: OMIM:612943
disease_name: RETINITIS PIGMENTOSA 42
gene_symbol: GRM6
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: POMGNT1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PAX2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: HGSNAT
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CRX
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PHYH
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TTC8
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: HMX1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PXDN
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: IMPG1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TIMP3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TIMP3
disease_id: OMIM:136900
disease_name: SORSBY FUNDUS DYSTROPHY
gene_symbol: YPEL2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: IFT27
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ADAMTS18
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: INPP5E
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: IDH3A
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SAMD11
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PANK2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PANK2
disease_id: OMIM:234200
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1
gene_symbol: UNC119
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RP1L1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RP1L1
disease_id: OMIM:613587
disease_name: OCCULT MACULAR DYSTROPHY
gene_symbol: IMPDH1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CFAP418
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CEP164
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PCDH15
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CCT2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: GDF6
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: IFT172
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: WDPCP
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PCYT1A
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PCYT1A
disease_id: OMIM:620680
disease_name: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 5
gene_symbol: IFT74
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: IFT74
disease_id: OMIM:619585
disease_name: SPERMATOGENIC FAILURE 58
gene_symbol: CDHR1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: AGBL5
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: NR2E3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: NR2E3
disease_id: OMIM:611131
disease_name: RETINITIS PIGMENTOSA 37
gene_symbol: NDP
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RP9
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PRPF6
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PRPF6
disease_id: OMIM:613983
disease_name: RETINITIS PIGMENTOSA 60
gene_symbol: CIB2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ARSG
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ARL6
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: LRP5
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: C1QTNF5
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SLC39A5
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SAG
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: GNPTG
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SCAPER
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TUB
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: HCCS
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: OPA3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PITPNM3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SPP2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: BMP4
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: AHI1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SPATA7
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CLN3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: VPS13B
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: INVS
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: MVK
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RDH5
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ITM2B
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ITM2B
disease_id: OMIM:616079
disease_name: RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES
gene_symbol: RDH12
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ABCB6
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: REEP6
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CNGB1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CNGA1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: MFRP
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: MFRP
disease_id: OMIM:611040
disease_name: MICROPHTHALMIA, ISOLATED 5
gene_symbol: RIMS1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: BBS7
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PLA2G5
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CDH23
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: AFG3L2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: AFG3L2
disease_id: OMIM:610246
disease_name: SPINOCEREBELLAR ATAXIA 28
gene_symbol: RPGRIP1L
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: LAMA1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ROM1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: NYX
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SNRNP200
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: NPHP3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CEP41
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RGS9BP
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RHO
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: NEK2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SLC4A7
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: COL9A1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: COL11A1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PEX1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RS1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SLC24A1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: VWA8
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CSPP1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RPGRIP1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RLBP1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ELOVL4
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ELOVL4
disease_id: OMIM:133190
disease_name: SPINOCEREBELLAR ATAXIA 34
gene_symbol: FSCN2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: COL9A2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: EYS
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: BBS10
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SRD5A3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: BBS5
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: POC5
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: OR2W3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: DRAM2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: DRAM2
disease_id: OMIM:616502
disease_name: CONE-ROD DYSTROPHY 21
gene_symbol: CFH
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ASRGL1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: MMACHC
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: MMACHC
disease_id: OMIM:277400
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
gene_symbol: RGR
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: BEST1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: MIR204
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ACBD5
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SSX1
disease_id: OMIM:301099
disease_name: SPERMATOGENIC FAILURE, X-LINKED, 5
gene_symbol: MEI1
disease_id: OMIM:618431
disease_name: HYDATIDIFORM MOLE, RECURRENT, 3
gene_symbol: ASTL
disease_id: OMIM:619643
disease_name: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 11
gene_symbol: TIE1
disease_id: OMIM:619401
disease_name: LYMPHATIC MALFORMATION 11
gene_symbol: NAGLU
disease_id: OMIM:616491
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V
gene_symbol: MECR
disease_id: OMIM:620629
disease_name: OPTIC ATROPHY 16
gene_symbol: MSH3
disease_id: OMIM:617100
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 4
gene_symbol: PNLDC1
disease_id: OMIM:619528
disease_name: SPERMATOGENIC FAILURE 57
gene_symbol: TERB2
disease_id: OMIM:619645
disease_name: SPERMATOGENIC FAILURE 59
gene_symbol: TERB1
disease_id: OMIM:619646
disease_name: SPERMATOGENIC FAILURE 60
gene_symbol: SLC37A4
disease_id: OMIM:619525
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw
gene_symbol: ERLIN2
disease_id: OMIM:620512
disease_name: SPASTIC PARAPLEGIA 18A, AUTOSOMAL DOMINANT
gene_symbol: ATP7B
disease_id: OMIM:277900
disease_name: WILSON DISEASE
gene_symbol: TNNT2
disease_id: OMIM:601494
disease_name: CARDIOMYOPATHY, DILATED, 1D
gene_symbol: TNNT2
disease_id: OMIM:115195
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2
gene_symbol: GABRA3
disease_id: OMIM:301091
disease_name: EPILEPSY, X-LINKED 2, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT AND DYSMORPHIC FEATURES
gene_symbol: COCH
disease_id: OMIM:601369
disease_name: DEAFNESS, AUTOSOMAL DOMINANT 9
gene_symbol: TLCD3B
disease_id: OMIM:619531
disease_name: CONE-ROD DYSTROPHY 22
gene_symbol: CFAP44
disease_id: OMIM:617593
disease_name: SPERMATOGENIC FAILURE 20
gene_symbol: COL4A1
disease_id: OMIM:618564
disease_name: MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT
gene_symbol: CFAP43
disease_id: OMIM:617592
disease_name: SPERMATOGENIC FAILURE 19
gene_symbol: IDS
disease_id: OMIM:309900
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE II
gene_symbol: POGLUT1
disease_id: OMIM:617232
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 21
gene_symbol: SPTAN1
disease_id: OMIM:620528
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11
gene_symbol: SPTAN1
disease_id: OMIM:620538
disease_name: SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA
gene_symbol: RRM1
disease_id: OMIM:620647
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 6
gene_symbol: SMAD2
disease_id: OMIM:619656
disease_name: LOEYS-DIETZ SYNDROME 6
gene_symbol: SMAD2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: SLCO2A1
disease_id: OMIM:167100
disease_name: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL DOMINANT
gene_symbol: SLCO2A1
disease_id: OMIM:614441
disease_name: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2
gene_symbol: GGCX
disease_id: OMIM:610842
disease_name: PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY
gene_symbol: SAMD7
disease_id: OMIM:620762
disease_name: MACULAR DYSTROPHY WITH OR WITHOUT CONE DYSFUNCTION
gene_symbol: SMPX
disease_id: OMIM:301075
disease_name: MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED
gene_symbol: GCNA
disease_id: OMIM:301077
disease_name: SPERMATOGENIC FAILURE, X-LINKED, 4
gene_symbol: ANLN
disease_id: OMIM:616032
disease_name: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8
gene_symbol: GNB4
disease_id: OMIM:615185
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F
gene_symbol: KCND3
disease_id: OMIM:616399
disease_name: BRUGADA SYNDROME 9
gene_symbol: KCND3
disease_id: OMIM:607346
disease_name: SPINOCEREBELLAR ATAXIA 19
gene_symbol: CFAP61
disease_id: OMIM:620409
disease_name: SPERMATOGENIC FAILURE 84
gene_symbol: LYZ
disease_id: OMIM:620658
disease_name: AMYLOIDOSIS, HEREDITARY SYSTEMIC 5
gene_symbol: CAPNS1
disease_id: OMIM:620777
disease_name: PULMONARY HYPERTENSION, PRIMARY, 6
gene_symbol: APOA1
disease_id: OMIM:620657
disease_name: AMYLOIDOSIS, HEREDITARY SYSTEMIC 3
gene_symbol: APOA1
disease_id: OMIM:618463
disease_name: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2
gene_symbol: MYZAP
disease_id: OMIM:620894
disease_name: OMIM:620894
gene_symbol: DES
disease_id: OMIM:181400
disease_name: SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE
gene_symbol: MANF
disease_id: OMIM:620651
disease_name: DIABETES, DEAFNESS, DEVELOPMENTAL DELAY, AND SHORT STATURE SYNDROME
gene_symbol: GARS1
disease_id: OMIM:601472
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D
gene_symbol: GARS1
disease_id: OMIM:600794
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA
gene_symbol: SETX
disease_id: OMIM:602433
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE
gene_symbol: RILPL1
disease_id: OMIM:619790
disease_name: OCULOPHARYNGODISTAL MYOPATHY 4
gene_symbol: NLRP7
disease_id: OMIM:231090
disease_name: HYDATIDIFORM MOLE, RECURRENT, 1
gene_symbol: MCM6
disease_id: OMIM:223100
disease_name: LACTOSE INTOLERANCE, ADULT TYPE
gene_symbol: DIAPH2
disease_id: OMIM:300511
disease_name: PREMATURE OVARIAN FAILURE 2A
gene_symbol: QRICH2
disease_id: OMIM:618341
disease_name: SPERMATOGENIC FAILURE 35
gene_symbol: TBC1D24
disease_id: OMIM:616044
disease_name: DEAFNESS, AUTOSOMAL DOMINANT 65
gene_symbol: KASH5
disease_id: OMIM:620548
disease_name: PREMATURE OVARIAN FAILURE 22
gene_symbol: KASH5
disease_id: OMIM:620547
disease_name: SPERMATOGENIC FAILURE 88
gene_symbol: ZPBP
disease_id: OMIM:619799
disease_name: SPERMATOGENIC FAILURE 66
gene_symbol: NAA60
disease_id: OMIM:620786
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE
gene_symbol: COQ4
disease_id: OMIM:620666
disease_name: SPASTIC ATAXIA 10, AUTOSOMAL RECESSIVE
gene_symbol: POLG
disease_id: OMIM:258450
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
gene_symbol: LPL
disease_id: OMIM:238600
disease_name: HYPERLIPOPROTEINEMIA, TYPE I
gene_symbol: CFI
disease_id: OMIM:612923
disease_name: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3
gene_symbol: SERPINH1
disease_id: OMIM:610504
disease_name: PRETERM PREMATURE RUPTURE OF THE MEMBRANES
gene_symbol: DNAJB6
disease_id: OMIM:603511
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1
gene_symbol: C14orf39
disease_id: OMIM:619202
disease_name: SPERMATOGENIC FAILURE 52
gene_symbol: AOPEP
disease_id: OMIM:619565
disease_name: DYSTONIA 31
gene_symbol: JAG2
disease_id: OMIM:619566
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27
gene_symbol: SCNN1G
disease_id: OMIM:618114
disease_name: LIDDLE SYNDROME 2
gene_symbol: TRPV4
disease_id: OMIM:617383
disease_name: AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2
gene_symbol: TRPV4
disease_id: OMIM:606071
disease_name: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC
gene_symbol: MGME1
disease_id: OMIM:615084
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 11
gene_symbol: ATXN10
disease_id: OMIM:603516
disease_name: SPINOCEREBELLAR ATAXIA 10
gene_symbol: SOHLH1
disease_id: OMIM:618115
disease_name: SPERMATOGENIC FAILURE 32
gene_symbol: RIGI
disease_id: OMIM:616298
disease_name: SINGLETON-MERTEN SYNDROME 2
gene_symbol: TDRD9
disease_id: OMIM:618110
disease_name: SPERMATOGENIC FAILURE 30
gene_symbol: KPNA7
disease_id: OMIM:620319
disease_name: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 17
gene_symbol: RPL10L
disease_id: OMIM:619689
disease_name: SPERMATOGENIC FAILURE 63
gene_symbol: EIF2B3
disease_id: OMIM:620313
disease_name: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 3
gene_symbol: LYST
disease_id: OMIM:214500
disease_name: CHEDIAK-HIGASHI SYNDROME
gene_symbol: TP63
disease_id: OMIM:620311
disease_name: PREMATURE OVARIAN FAILURE 21
gene_symbol: LMX1B
disease_id: OMIM:256020
disease_name: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 10
gene_symbol: SMARCA4
disease_id: OMIM:620792
disease_name: OTOSCLEROSIS 12
gene_symbol: MAPKBP1
disease_id: OMIM:617271
disease_name: NEPHRONOPHTHISIS 20
gene_symbol: PRKN
disease_id: OMIM:600116
disease_name: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
gene_symbol: FBXO43
disease_id: OMIM:619696
disease_name: SPERMATOGENIC FAILURE 64
gene_symbol: MAGT1
disease_id: OMIM:300853
disease_name: IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA
gene_symbol: SLC17A9
disease_id: OMIM:616063
disease_name: POROKERATOSIS 8, DISSEMINATED SUPERFICIAL ACTINIC TYPE
gene_symbol: UBQLN2
disease_id: OMIM:300857
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 15 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
gene_symbol: HNF1B
disease_id: OMIM:137920
disease_name: RENAL CYSTS AND DIABETES SYNDROME
gene_symbol: ACTG1
disease_id: OMIM:604717
disease_name: DEAFNESS, AUTOSOMAL DOMINANT 20
gene_symbol: PKP2
disease_id: OMIM:609040
disease_name: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9
gene_symbol: SLC25A4
disease_id: OMIM:609283
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2
gene_symbol: DNAJB4
disease_id: OMIM:620326
disease_name: CONGENITAL MYOPATHY 21 WITH EARLY RESPIRATORY FAILURE
gene_symbol: CAPN3
disease_id: OMIM:618129
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4
gene_symbol: MEIOB
disease_id: OMIM:620686
disease_name: PREMATURE OVARIAN FAILURE 23
gene_symbol: MEIOB
disease_id: OMIM:617706
disease_name: SPERMATOGENIC FAILURE 22
gene_symbol: RAB39B
disease_id: OMIM:311510
disease_name: WAISMAN SYNDROME
gene_symbol: FKTN
disease_id: OMIM:611615
disease_name: CARDIOMYOPATHY, DILATED, 1X
gene_symbol: PLAAT3
disease_id: OMIM:620683
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9
gene_symbol: NPC1
disease_id: OMIM:257220
disease_name: NIEMANN-PICK DISEASE, TYPE C1
gene_symbol: NHLRC1
disease_id: OMIM:620681
disease_name: MYOCLONIC EPILEPSY OF LAFORA 2
gene_symbol: MYL4
disease_id: OMIM:617280
disease_name: ATRIAL FIBRILLATION, FAMILIAL, 18
gene_symbol: AURKC
disease_id: OMIM:243060
disease_name: SPERMATOGENIC FAILURE 5
gene_symbol: GDF9
disease_id: OMIM:618014
disease_name: PREMATURE OVARIAN FAILURE 14
gene_symbol: LOX
disease_id: OMIM:617168
disease_name: AORTIC ANEURYSM, FAMILIAL THORACIC 10
gene_symbol: LOX
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: ADGRG2
disease_id: OMIM:300985
disease_name: VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF, X-LINKED
gene_symbol: FARS2
disease_id: OMIM:617046
disease_name: SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE
gene_symbol: GYG1
disease_id: OMIM:616199
disease_name: POLYGLUCOSAN BODY MYOPATHY 2
gene_symbol: PRDM10
disease_id: OMIM:620459
disease_name: BIRT-HOGG-DUBE SYNDROME 2
gene_symbol: PLA2G6
disease_id: OMIM:612953
disease_name: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
gene_symbol: NLRP5
disease_id: OMIM:620333
disease_name: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 19
gene_symbol: FOXL1
disease_id: OMIM:620576
disease_name: OTOSCLEROSIS 11
gene_symbol: NLRP2
disease_id: OMIM:620332
disease_name: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 18
gene_symbol: TAF4
disease_id: OMIM:620450
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73
gene_symbol: CCDC39
disease_id: OMIM:613807
disease_name: CILIARY DYSKINESIA, PRIMARY, 14
gene_symbol: TRPC6
disease_id: OMIM:603965
disease_name: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2
gene_symbol: CIB1
disease_id: OMIM:618267
disease_name: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3
gene_symbol: NOTCH2NLC
disease_id: OMIM:619473
disease_name: OCULOPHARYNGODISTAL MYOPATHY 3
gene_symbol: SEC61A1
disease_id: OMIM:617056
disease_name: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5
gene_symbol: USP48
disease_id: OMIM:620227
disease_name: DEAFNESS, AUTOSOMAL DOMINANT 85
gene_symbol: FKBP6
disease_id: OMIM:620103
disease_name: SPERMATOGENIC FAILURE 77
gene_symbol: TNNC1
disease_id: OMIM:611879
disease_name: CARDIOMYOPATHY, DILATED, 1Z
gene_symbol: TNNC1
disease_id: OMIM:613243
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13
gene_symbol: DRC1
disease_id: OMIM:620222
disease_name: SPERMATOGENIC FAILURE 80
gene_symbol: TPM1
disease_id: OMIM:611878
disease_name: CARDIOMYOPATHY, DILATED, 1Y
gene_symbol: SUFU
disease_id: OMIM:620343
disease_name: BASAL CELL NEVUS SYNDROME 2
gene_symbol: MCAT
disease_id: OMIM:620583
disease_name: OPTIC ATROPHY 15
gene_symbol: HNRNPA2B1
disease_id: OMIM:620460
disease_name: OCULOPHARYNGEAL MUSCULAR DYSTROPHY 2
gene_symbol: FN1
disease_id: OMIM:601894
disease_name: GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2
gene_symbol: CRYBA2
disease_id: OMIM:115900
disease_name: CATARACT 42
gene_symbol: PLG
disease_id: OMIM:619360
disease_name: ANGIOEDEMA, HEREDITARY, 4
gene_symbol: HAVCR2
disease_id: OMIM:618398
disease_name: T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE
gene_symbol: SUN5
disease_id: OMIM:617187
disease_name: SPERMATOGENIC FAILURE 16
gene_symbol: SEC23B
disease_id: OMIM:224100
disease_name: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE II
gene_symbol: CFAP251
disease_id: OMIM:618152
disease_name: SPERMATOGENIC FAILURE 33
gene_symbol: POF1B
disease_id: OMIM:300604
disease_name: PREMATURE OVARIAN FAILURE 2B
gene_symbol: FSIP2
disease_id: OMIM:618153
disease_name: SPERMATOGENIC FAILURE 34
gene_symbol: KNG1
disease_id: OMIM:619363
disease_name: ANGIOEDEMA, HEREDITARY, 6
gene_symbol: VPS13A
disease_id: OMIM:200150
disease_name: CHOREOACANTHOCYTOSIS
gene_symbol: THAP1
disease_id: OMIM:602629
disease_name: DYSTONIA 6, TORSION
gene_symbol: TNNI3
disease_id: OMIM:611880
disease_name: CARDIOMYOPATHY, DILATED, 2A
gene_symbol: TNNI3
disease_id: OMIM:613286
disease_name: CARDIOMYOPATHY, DILATED, 1FF
gene_symbol: KLHL24
disease_id: OMIM:620236
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 29, WITH POLYGLUCOSAN BODIES
gene_symbol: SLC39A14
disease_id: OMIM:144755
disease_name: HYPEROSTOSIS CRANIALIS INTERNA
gene_symbol: OBSCN
disease_id: OMIM:620235
disease_name: RHABDOMYOLYSIS, SUSCEPTIBILITY TO, 1
gene_symbol: ITPR3
disease_id: OMIM:620111
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1J
gene_symbol: AKAP3
disease_id: OMIM:620353
disease_name: SPERMATOGENIC FAILURE 82
gene_symbol: DNALI1
disease_id: OMIM:620354
disease_name: SPERMATOGENIC FAILURE 83
gene_symbol: VCL
disease_id: OMIM:611407
disease_name: CARDIOMYOPATHY, DILATED, 1W
gene_symbol: SLC4A3
disease_id: OMIM:620231
disease_name: SHORT QT SYNDROME 7
gene_symbol: ATL1
disease_id: OMIM:613708
disease_name: NEUROPATHY, HEREDITARY SENSORY, TYPE ID
gene_symbol: PSAP
disease_id: OMIM:619491
disease_name: PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
gene_symbol: DIAPH3
disease_id: OMIM:609129
disease_name: AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1
gene_symbol: DGUOK
disease_id: OMIM:617070
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4
gene_symbol: CATIP
disease_id: OMIM:619379
disease_name: SPERMATOGENIC FAILURE 54
gene_symbol: CYLD
disease_id: OMIM:619132
disease_name: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8
gene_symbol: TRIP13
disease_id: OMIM:619011
disease_name: OOCYTE MATURATION DEFECT 9
gene_symbol: TIA1
disease_id: OMIM:619133
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
gene_symbol: SOCS1
disease_id: OMIM:619375
disease_name: AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY
gene_symbol: SHANK3
disease_id: OMIM:613950
disease_name: SCHIZOPHRENIA 15
gene_symbol: SCN4A
disease_id: OMIM:608390
disease_name: MYOTONIA, POTASSIUM-AGGRAVATED
gene_symbol: VEZF1
disease_id: OMIM:620247
disease_name: CARDIOMYOPATHY, DILATED, 1OO
gene_symbol: POT1
disease_id: OMIM:620367
disease_name: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 8
gene_symbol: DPY19L2
disease_id: OMIM:613958
disease_name: SPERMATOGENIC FAILURE 9
gene_symbol: NAF1
disease_id: OMIM:620365
disease_name: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 7
gene_symbol: CPOX
disease_id: OMIM:121300
disease_name: COPROPORPHYRIA, HEREDITARY
gene_symbol: SPACA1
disease_id: OMIM:620490
disease_name: SPERMATOGENIC FAILURE 85
gene_symbol: SPAG17
disease_id: OMIM:619380
disease_name: SPERMATOGENIC FAILURE 55
gene_symbol: DNAJC30
disease_id: OMIM:619382
disease_name: LEBER-LIKE HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE 1
gene_symbol: GANAB
disease_id: OMIM:600666
disease_name: POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
gene_symbol: FOXC1
disease_id: OMIM:601631
disease_name: ANTERIOR SEGMENT DYSGENESIS 3
gene_symbol: XRCC2
disease_id: OMIM:619146
disease_name: PREMATURE OVARIAN FAILURE 17
gene_symbol: MAPT
disease_id: OMIM:260540
disease_name: PARKINSON-DEMENTIA SYNDROME
gene_symbol: EPAS1
disease_id: OMIM:611783
disease_name: ERYTHROCYTOSIS, FAMILIAL, 4
gene_symbol: CATSPER1
disease_id: OMIM:612997
disease_name: SPERMATOGENIC FAILURE 7
gene_symbol: STRC
disease_id: OMIM:612997
disease_name: SPERMATOGENIC FAILURE 7
gene_symbol: CATSPER2
disease_id: OMIM:612997
disease_name: SPERMATOGENIC FAILURE 7
gene_symbol: MAFB
disease_id: OMIM:166300
disease_name: MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME
gene_symbol: SNCA
disease_id: OMIM:168601
disease_name: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT
gene_symbol: NOL3
disease_id: OMIM:614937
disease_name: MYOCLONUS, FAMILIAL, 1
gene_symbol: ACTL7A
disease_id: OMIM:620499
disease_name: SPERMATOGENIC FAILURE 86
gene_symbol: ANO5
disease_id: OMIM:611307
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12
gene_symbol: ANO5
disease_id: OMIM:613319
disease_name: MIYOSHI MUSCULAR DYSTROPHY 3
gene_symbol: MARCHF6
disease_id: OMIM:613608
disease_name: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 3
gene_symbol: ANO10
disease_id: OMIM:613728
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10
gene_symbol: TRPM3
disease_id: OMIM:620253
disease_name: CATARACT 50 WITH OR WITHOUT GLAUCOMA
gene_symbol: OXGR1
disease_id: OMIM:620374
disease_name: NEPHROLITHIASIS, CALCIUM OXALATE, 2, WITH OR WITHOUT NEPHROCALCINOSIS
gene_symbol: SLC26A1
disease_id: OMIM:620372
disease_name: HYPERSULFATURIA
gene_symbol: CACNA1A
disease_id: OMIM:183086
disease_name: SPINOCEREBELLAR ATAXIA 6
gene_symbol: CACNA1A
disease_id: OMIM:141500
disease_name: MIGRAINE, FAMILIAL HEMIPLEGIC, 1
gene_symbol: MATR3
disease_id: OMIM:606070
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 21
gene_symbol: SEPTIN12
disease_id: OMIM:614822
disease_name: SPERMATOGENIC FAILURE 10
gene_symbol: CACNB4
disease_id: OMIM:613855
disease_name: EPISODIC ATAXIA, TYPE 5
gene_symbol: RAF1
disease_id: OMIM:615916
disease_name: CARDIOMYOPATHY, DILATED, 1NN
gene_symbol: TNNT1
disease_id: OMIM:620389
disease_name: NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT
gene_symbol: ATP1A3
disease_id: OMIM:128235
disease_name: DYSTONIA 12
gene_symbol: MOS
disease_id: OMIM:620383
disease_name: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 20
gene_symbol: ATXN2
disease_id: OMIM:183090
disease_name: SPINOCEREBELLAR ATAXIA 2
gene_symbol: PDE11A
disease_id: OMIM:610475
disease_name: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2
gene_symbol: SLC4A1
disease_id: OMIM:612653
disease_name: SPHEROCYTOSIS, TYPE 4
gene_symbol: DSC2
disease_id: OMIM:610476
disease_name: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11
gene_symbol: PPOX
disease_id: OMIM:176200
disease_name: VARIEGATE PORPHYRIA
gene_symbol: NPTX1
disease_id: OMIM:620158
disease_name: SPINOCEREBELLAR ATAXIA 50
gene_symbol: CDC20
disease_id: OMIM:620276
disease_name: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 14
gene_symbol: SPATA22
disease_id: OMIM:621002
disease_name: OMIM:621002
gene_symbol: SPATA22
disease_id: OMIM:621001
disease_name: OMIM:621001
gene_symbol: TERT
disease_id: OMIM:613989
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
gene_symbol: ZFP36L2
disease_id: OMIM:620154
disease_name: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 13
gene_symbol: FHL1
disease_id: OMIM:300696
disease_name: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY
gene_symbol: FHL1
disease_id: OMIM:300695
disease_name: SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
gene_symbol: LGI1
disease_id: OMIM:600512
disease_name: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1
gene_symbol: RELN
disease_id: OMIM:600512
disease_name: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1
gene_symbol: MICAL1
disease_id: OMIM:600512
disease_name: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1
gene_symbol: VPS16
disease_id: OMIM:619291
disease_name: DYSTONIA 30
gene_symbol: SH3BP2
disease_id: OMIM:118400
disease_name: CHERUBISM
gene_symbol: FANCM
disease_id: OMIM:618086
disease_name: SPERMATOGENIC FAILURE 28
gene_symbol: TINF2
disease_id: OMIM:613990
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3
gene_symbol: JPH2
disease_id: OMIM:613873
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17
gene_symbol: DYRK1B
disease_id: OMIM:615812
disease_name: ABDOMINAL OBESITY-METABOLIC SYNDROME 3
gene_symbol: PLIN1
disease_id: OMIM:613877
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4
gene_symbol: CMPK2
disease_id: OMIM:621018
disease_name: OMIM:621018
gene_symbol: PRKAR1A
disease_id: OMIM:610489
disease_name: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1
gene_symbol: VAMP1
disease_id: OMIM:108600
disease_name: SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT
gene_symbol: PTF1A
disease_id: OMIM:615935
disease_name: PANCREATIC AGENESIS 2
gene_symbol: LRP12
disease_id: OMIM:164310
disease_name: OCULOPHARYNGODISTAL MYOPATHY 1
gene_symbol: EPHA10
disease_id: OMIM:620283
disease_name: DEAFNESS, AUTOSOMAL DOMINANT 88
gene_symbol: CAPN1
disease_id: OMIM:616907
disease_name: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE
gene_symbol: IQCN
disease_id: OMIM:620170
disease_name: SPERMATOGENIC FAILURE 78
gene_symbol: SPG7
disease_id: OMIM:607259
disease_name: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
gene_symbol: RIPOR2
disease_id: OMIM:607017
disease_name: DEAFNESS, AUTOSOMAL DOMINANT 21
gene_symbol: SPINK2
disease_id: OMIM:618091
disease_name: SPERMATOGENIC FAILURE 29
gene_symbol: BMPR2
disease_id: OMIM:178600
disease_name: PULMONARY HYPERTENSION, PRIMARY, 1
gene_symbol: REEP1
disease_id: OMIM:610250
disease_name: SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT
gene_symbol: SPTLC2
disease_id: OMIM:613640
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC
gene_symbol: BAG3
disease_id: OMIM:613881
disease_name: CARDIOMYOPATHY, DILATED, 1HH
gene_symbol: BRCA2
disease_id: OMIM:612555
disease_name: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
gene_symbol: DAB1
disease_id: OMIM:615945
disease_name: SPINOCEREBELLAR ATAXIA 37
gene_symbol: XKRY
disease_id: OMIM:415000
disease_name: SPERMATOGENIC FAILURE, Y-LINKED, 2
gene_symbol: VCY
disease_id: OMIM:415000
disease_name: SPERMATOGENIC FAILURE, Y-LINKED, 2
gene_symbol: USP9Y
disease_id: OMIM:415000
disease_name: SPERMATOGENIC FAILURE, Y-LINKED, 2
gene_symbol: RBMY1A1
disease_id: OMIM:415000
disease_name: SPERMATOGENIC FAILURE, Y-LINKED, 2
gene_symbol: DDX3Y
disease_id: OMIM:415000
disease_name: SPERMATOGENIC FAILURE, Y-LINKED, 2
gene_symbol: HSFY1
disease_id: OMIM:415000
disease_name: SPERMATOGENIC FAILURE, Y-LINKED, 2
gene_symbol: CDY2A
disease_id: OMIM:415000
disease_name: SPERMATOGENIC FAILURE, Y-LINKED, 2
gene_symbol: CDY1
disease_id: OMIM:415000
disease_name: SPERMATOGENIC FAILURE, Y-LINKED, 2
gene_symbol: DAZ1
disease_id: OMIM:415000
disease_name: SPERMATOGENIC FAILURE, Y-LINKED, 2
gene_symbol: PRY2
disease_id: OMIM:415000
disease_name: SPERMATOGENIC FAILURE, Y-LINKED, 2
gene_symbol: PRY
disease_id: OMIM:415000
disease_name: SPERMATOGENIC FAILURE, Y-LINKED, 2
gene_symbol: BPY2
disease_id: OMIM:415000
disease_name: SPERMATOGENIC FAILURE, Y-LINKED, 2
gene_symbol: DAZ3
disease_id: OMIM:415000
disease_name: SPERMATOGENIC FAILURE, Y-LINKED, 2
gene_symbol: RPS4Y2
disease_id: OMIM:415000
disease_name: SPERMATOGENIC FAILURE, Y-LINKED, 2
gene_symbol: KDM5D
disease_id: OMIM:415000
disease_name: SPERMATOGENIC FAILURE, Y-LINKED, 2
gene_symbol: DAZ2
disease_id: OMIM:415000
disease_name: SPERMATOGENIC FAILURE, Y-LINKED, 2
gene_symbol: TBX18
disease_id: OMIM:143400
disease_name: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2
gene_symbol: TBP
disease_id: OMIM:607136
disease_name: SPINOCEREBELLAR ATAXIA 17
gene_symbol: ALDH5A1
disease_id: OMIM:271980
disease_name: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
gene_symbol: SLC7A6OS
disease_id: OMIM:619191
disease_name: EPILEPSY, PROGRESSIVE MYOCLONIC, 12
gene_symbol: NPPA
disease_id: OMIM:612201
disease_name: ATRIAL FIBRILLATION, FAMILIAL, 6
gene_symbol: ELOVL5
disease_id: OMIM:615957
disease_name: SPINOCEREBELLAR ATAXIA 38
gene_symbol: SLC19A3
disease_id: OMIM:607483
disease_name: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE)
gene_symbol: MSH4
disease_id: OMIM:108420
disease_name: SPERMATOGENIC FAILURE 2
gene_symbol: MSH4
disease_id: OMIM:619938
disease_name: PREMATURE OVARIAN FAILURE 20
gene_symbol: TEX11
disease_id: OMIM:309120
disease_name: SPERMATOGENIC FAILURE, X-LINKED, 2
gene_symbol: HPRT1
disease_id: OMIM:300322
disease_name: LESCH-NYHAN SYNDROME
gene_symbol: NF1
disease_id: OMIM:162210
disease_name: NEUROFIBROMATOSIS, FAMILIAL SPINAL
gene_symbol: NR0B1
disease_id: OMIM:300200
disease_name: ADRENAL HYPOPLASIA, CONGENITAL
gene_symbol: NR3C1
disease_id: OMIM:615962
disease_name: GLUCOCORTICOID RESISTANCE, GENERALIZED
gene_symbol: TAF4B
disease_id: OMIM:615841
disease_name: SPERMATOGENIC FAILURE 13
gene_symbol: ZMYND15
disease_id: OMIM:615842
disease_name: SPERMATOGENIC FAILURE 14
gene_symbol: HFM1
disease_id: OMIM:615724
disease_name: PREMATURE OVARIAN FAILURE 9
gene_symbol: STAG3
disease_id: OMIM:615723
disease_name: PREMATURE OVARIAN FAILURE 8
gene_symbol: FSHB
disease_id: OMIM:229070
disease_name: HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA
gene_symbol: SPRY2
disease_id: OMIM:616818
disease_name: IgA NEPHROPATHY, SUSCEPTIBILITY TO, 3
gene_symbol: SSBP1
disease_id: OMIM:165510
disease_name: OPTIC ATROPHY 13 WITH RETINAL AND FOVEAL ABNORMALITIES
gene_symbol: KCNU1
disease_id: OMIM:620196
disease_name: SPERMATOGENIC FAILURE 79
gene_symbol: ICOS
disease_id: OMIM:607594
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 1
gene_symbol: CCDC34
disease_id: OMIM:620084
disease_name: SPERMATOGENIC FAILURE 76
gene_symbol: UMOD
disease_id: OMIM:162000
disease_name: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1
gene_symbol: STOX1
disease_id: OMIM:609404
disease_name: PREECLAMPSIA/ECLAMPSIA 4
gene_symbol: CBS
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: FBN1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: FBN1
disease_id: OMIM:129600
disease_name: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
gene_symbol: MFAP5
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: IPO8
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: THSD4
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: THSD4
disease_id: OMIM:619825
disease_name: AORTIC ANEURYSM, FAMILIAL THORACIC 12
gene_symbol: TGFB2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: AEBP1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: FKBP14
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TGFBR1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: COL3A1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: SKI
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: PLOD1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: NPR3
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: SMAD3
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: PMEPA1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: EFEMP2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: LTBP3
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: ASPH
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: FBN2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: EMILIN1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: SLC2A10
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TGFB3
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TGFBR2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: BGN
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: NPR2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: ABL1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: DNAJB2
disease_id: OMIM:614881
disease_name: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5
gene_symbol: CNTNAP2
disease_id: OMIM:610042
disease_name: PITT-HOPKINS-LIKE SYNDROME 1
gene_symbol: ERCC6
disease_id: OMIM:616946
disease_name: PREMATURE OVARIAN FAILURE 11
gene_symbol: OPTN
disease_id: OMIM:613435
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 12 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
gene_symbol: PAX4
disease_id: OMIM:612225
disease_name: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9
gene_symbol: HAMP
disease_id: OMIM:613313
disease_name: HEMOCHROMATOSIS, TYPE 2B
gene_symbol: TGFBI
disease_id: OMIM:121820
disease_name: CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE
gene_symbol: SERPING1
disease_id: OMIM:106100
disease_name: ANGIOEDEMA, HEREDITARY, TYPE I
gene_symbol: HSPB8
disease_id: OMIM:608673
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L
gene_symbol: SYCP3
disease_id: OMIM:270960
disease_name: SPERMATOGENIC FAILURE 4
gene_symbol: DNAJC5
disease_id: OMIM:162350
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT
gene_symbol: LIPE
disease_id: OMIM:615980
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6
gene_symbol: LMF1
disease_id: OMIM:246650
disease_name: LIPASE DEFICIENCY, COMBINED
gene_symbol: GALC
disease_id: OMIM:245200
disease_name: KRABBE DISEASE
gene_symbol: KIF5A
disease_id: OMIM:617921
disease_name: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25
gene_symbol: CPT2
disease_id: OMIM:255110
disease_name: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED
gene_symbol: SYCE1
disease_id: OMIM:616950
disease_name: SPERMATOGENIC FAILURE 15
gene_symbol: TNC
disease_id: OMIM:615629
disease_name: DEAFNESS, AUTOSOMAL DOMINANT 56
gene_symbol: TUBB4A
disease_id: OMIM:128101
disease_name: DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT
gene_symbol: SCN1A
disease_id: OMIM:609634
disease_name: MIGRAINE, FAMILIAL HEMIPLEGIC, 3
gene_symbol: CBFB
disease_id: OMIM:620099
disease_name: CLEIDOCRANIAL DYSPLASIA 2
gene_symbol: GBF1
disease_id: OMIM:606483
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE A
gene_symbol: MARS2
disease_id: OMIM:611390
disease_name: SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE
gene_symbol: ATL3
disease_id: OMIM:615632
disease_name: NEUROPATHY, HEREDITARY SENSORY, TYPE IF
gene_symbol: VPS13C
disease_id: OMIM:616840
disease_name: PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET
gene_symbol: CD164
disease_id: OMIM:616969
disease_name: DEAFNESS, AUTOSOMAL DOMINANT 66
gene_symbol: FBLN5
disease_id: OMIM:608895
disease_name: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION
gene_symbol: DTNA
disease_id: OMIM:604169
disease_name: LEFT VENTRICULAR NONCOMPACTION 1
gene_symbol: VPS13D
disease_id: OMIM:607317
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4
gene_symbol: KCNC3
disease_id: OMIM:605259
disease_name: SPINOCEREBELLAR ATAXIA 13
gene_symbol: ATN1
disease_id: OMIM:125370
disease_name: DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY
gene_symbol: DSG2
disease_id: OMIM:610193
disease_name: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10
gene_symbol: EIF2AK4
disease_id: OMIM:234810
disease_name: PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE
gene_symbol: ACTA1
disease_id: OMIM:616852
disease_name: MYOPATHY, SCAPULOHUMEROPERONEAL
gene_symbol: AARS2
disease_id: OMIM:615889
disease_name: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE
gene_symbol: TENM4
disease_id: OMIM:616736
disease_name: TREMOR, HEREDITARY ESSENTIAL, 5
gene_symbol: TEX14
disease_id: OMIM:617707
disease_name: SPERMATOGENIC FAILURE 23
gene_symbol: APC
disease_id: OMIM:135290
disease_name: DESMOID DISEASE, HEREDITARY
gene_symbol: KCNQ1
disease_id: OMIM:607554
disease_name: ATRIAL FIBRILLATION, FAMILIAL, 3
gene_symbol: CTNS
disease_id: OMIM:219750
disease_name: CYSTINOSIS, ADULT NONNEPHROPATHIC
gene_symbol: IFIH1
disease_id: OMIM:182250
disease_name: SINGLETON-MERTEN SYNDROME 1
gene_symbol: INSR
disease_id: OMIM:609968
disease_name: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5
gene_symbol: SNORD118
disease_id: OMIM:614561
disease_name: LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS
gene_symbol: ZP3
disease_id: OMIM:617712
disease_name: OOCYTE MATURATION DEFECT 3
gene_symbol: TNFAIP3
disease_id: OMIM:616744
disease_name: AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE
gene_symbol: MPV17
disease_id: OMIM:256810
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE)
gene_symbol: ZP1
disease_id: OMIM:615774
disease_name: OOCYTE MATURATION DEFECT 1
gene_symbol: BAP1
disease_id: OMIM:614327
disease_name: TUMOR PREDISPOSITION SYNDROME
gene_symbol: CDH2
disease_id: OMIM:618920
disease_name: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14
gene_symbol: IL36RN
disease_id: OMIM:614204
disease_name: PSORIASIS 14, PUSTULAR
gene_symbol: KCNJ18
disease_id: OMIM:613239
disease_name: THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2
gene_symbol: SPG11
disease_id: OMIM:602099
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE
gene_symbol: SPG11
disease_id: OMIM:604360
disease_name: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE
gene_symbol: SPG11
disease_id: OMIM:616668
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X
gene_symbol: ATP13A2
disease_id: OMIM:606693
disease_name: KUFOR-RAKEB SYNDROME
gene_symbol: VAPB
disease_id: OMIM:608627
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 8
gene_symbol: CYP7B1
disease_id: OMIM:270800
disease_name: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE
gene_symbol: GJC2
disease_id: OMIM:613480
disease_name: LYMPHATIC MALFORMATION 3
gene_symbol: TSGA10
disease_id: OMIM:617961
disease_name: SPERMATOGENIC FAILURE 26
gene_symbol: TEX15
disease_id: OMIM:617960
disease_name: SPERMATOGENIC FAILURE 25
gene_symbol: AK7
disease_id: OMIM:617965
disease_name: SPERMATOGENIC FAILURE 27
gene_symbol: INF2
disease_id: OMIM:614455
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
gene_symbol: TULP3
disease_id: OMIM:619902
disease_name: HEPATORENOCARDIAC DEGENERATIVE FIBROSIS
gene_symbol: HNRNPA1
disease_id: OMIM:615424
disease_name: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3
gene_symbol: NEXN
disease_id: OMIM:613122
disease_name: CARDIOMYOPATHY, DILATED, 1CC
gene_symbol: APPL1
disease_id: OMIM:616511
disease_name: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14
gene_symbol: IKZF1
disease_id: OMIM:616873
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 13
gene_symbol: FDPS
disease_id: OMIM:616631
disease_name: POROKERATOSIS 9, MULTIPLE TYPES
gene_symbol: SLC44A4
disease_id: OMIM:617606
disease_name: DEAFNESS, AUTOSOMAL DOMINANT 72
gene_symbol: ACTN2
disease_id: OMIM:612158
disease_name: CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION
gene_symbol: SGCD
disease_id: OMIM:606685
disease_name: CARDIOMYOPATHY, DILATED, 1L
gene_symbol: NF2
disease_id: OMIM:101000
disease_name: NEUROFIBROMATOSIS, TYPE II
gene_symbol: PMP22
disease_id: OMIM:162500
disease_name: NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES
gene_symbol: SLC34A2
disease_id: OMIM:265100
disease_name: PULMONARY ALVEOLAR MICROLITHIASIS
gene_symbol: GIPC1
disease_id: OMIM:618940
disease_name: OCULOPHARYNGODISTAL MYOPATHY 2
gene_symbol: MYH6
disease_id: OMIM:613251
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 14
gene_symbol: PRLR
disease_id: OMIM:615555
disease_name: HYPERPROLACTINEMIA
gene_symbol: HSPB3
disease_id: OMIM:613376
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC
gene_symbol: BLK
disease_id: OMIM:613375
disease_name: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11
gene_symbol: NEK8
disease_id: OMIM:620903
disease_name: OMIM:620903
gene_symbol: GAA
disease_id: OMIM:232300
disease_name: GLYCOGEN STORAGE DISEASE II
gene_symbol: SRPK3
disease_id: OMIM:301134
disease_name: OMIM:301134
gene_symbol: PPARG
disease_id: OMIM:604367
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3
gene_symbol: CEL
disease_id: OMIM:609812
disease_name: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION
gene_symbol: CCDC62
disease_id: OMIM:619803
disease_name: SPERMATOGENIC FAILURE 67
gene_symbol: PATL2
disease_id: OMIM:617743
disease_name: OOCYTE MATURATION DEFECT 4
gene_symbol: CATSPERT
disease_id: OMIM:619805
disease_name: SPERMATOGENIC FAILURE 68
gene_symbol: COL6A3
disease_id: OMIM:616411
disease_name: DYSTONIA 27
gene_symbol: TRMT5
disease_id: OMIM:616539
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26
gene_symbol: DNMT1
disease_id: OMIM:614116
disease_name: NEUROPATHY, HEREDITARY SENSORY, TYPE IE
gene_symbol: DNMT1
disease_id: OMIM:604121
disease_name: CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
gene_symbol: RBM12
disease_id: OMIM:617629
disease_name: SCHIZOPHRENIA 19
gene_symbol: MAP1B
disease_id: OMIM:619808
disease_name: DEAFNESS, AUTOSOMAL DOMINANT 83
gene_symbol: USP26
disease_id: OMIM:301101
disease_name: SPERMATOGENIC FAILURE, X-LINKED, 6
gene_symbol: ITPR1
disease_id: OMIM:606658
disease_name: SPINOCEREBELLAR ATAXIA 15
gene_symbol: HINT1
disease_id: OMIM:137200
disease_name: NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE
gene_symbol: COQ8B
disease_id: OMIM:615573
disease_name: NEPHROTIC SYNDROME, TYPE 9
gene_symbol: CT55
disease_id: OMIM:301106
disease_name: SPERMATOGENIC FAILURE, X-LINKED, 7
gene_symbol: WEE2
disease_id: OMIM:617996
disease_name: OOCYTE MATURATION DEFECT 5
gene_symbol: MSH5
disease_id: OMIM:619937
disease_name: SPERMATOGENIC FAILURE 74
gene_symbol: ATP11A
disease_id: OMIM:619810
disease_name: DEAFNESS, AUTOSOMAL DOMINANT 84
gene_symbol: PRKAG2
disease_id: OMIM:194200
disease_name: WOLFF-PARKINSON-WHITE SYNDROME
gene_symbol: AAAS
disease_id: OMIM:231550
disease_name: ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME
gene_symbol: RPS19
disease_id: OMIM:105650
disease_name: DIAMOND-BLACKFAN ANEMIA 1
gene_symbol: SMPD1
disease_id: OMIM:607616
disease_name: NIEMANN-PICK DISEASE, TYPE B
gene_symbol: CASR
disease_id: OMIM:601198
disease_name: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
gene_symbol: SLC26A8
disease_id: OMIM:606766
disease_name: SPERMATOGENIC FAILURE 3
gene_symbol: CYLC1
disease_id: OMIM:301119
disease_name: SPERMATOGENIC FAILURE, X-LINKED, 8
gene_symbol: MOG
disease_id: OMIM:614250
disease_name: NARCOLEPSY 7
gene_symbol: KLHL3
disease_id: OMIM:614495
disease_name: PSEUDOHYPOALDOSTERONISM, TYPE IID
gene_symbol: TYROBP
disease_id: OMIM:221770
disease_name: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1
gene_symbol: TREM2
disease_id: OMIM:221770
disease_name: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1
gene_symbol: NT5C2
disease_id: OMIM:613162
disease_name: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE
gene_symbol: NEFL
disease_id: OMIM:617882
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G
gene_symbol: PMVK
disease_id: OMIM:175800
disease_name: POROKERATOSIS 1, MULTIPLE TYPES
gene_symbol: AARS1
disease_id: OMIM:613287
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N
gene_symbol: GGN
disease_id: OMIM:619826
disease_name: SPERMATOGENIC FAILURE 69
gene_symbol: RFXANK
disease_id: OMIM:620815
disease_name: MHC CLASS II DEFICIENCY 2
gene_symbol: BRDT
disease_id: OMIM:617644
disease_name: SPERMATOGENIC FAILURE 21
gene_symbol: KCNK3
disease_id: OMIM:615344
disease_name: PULMONARY HYPERTENSION, PRIMARY, 4
gene_symbol: SOX9
disease_id: OMIM:278850
disease_name: 46,XX SEX REVERSAL 2
gene_symbol: SHOC1
disease_id: OMIM:619949
disease_name: SPERMATOGENIC FAILURE 75
gene_symbol: PDHA2
disease_id: OMIM:619828
disease_name: SPERMATOGENIC FAILURE 70
gene_symbol: PRDX1
disease_id: OMIM:277400
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
gene_symbol: CARD9
disease_id: OMIM:212050
disease_name: CANDIDIASIS, FAMILIAL, 2
gene_symbol: UNC13D
disease_id: OMIM:608898
disease_name: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
gene_symbol: CEBPE
disease_id: OMIM:260570
disease_name: IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION
gene_symbol: SERPINA1
disease_id: OMIM:613490
disease_name: ALPHA-1-ANTITRYPSIN DEFICIENCY
gene_symbol: SELENBP1
disease_id: OMIM:618148
disease_name: EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY
gene_symbol: ESR2
disease_id: OMIM:618187
disease_name: OVARIAN DYSGENESIS 8
gene_symbol: KCNA5
disease_id: OMIM:612240
disease_name: ATRIAL FIBRILLATION, FAMILIAL, 7
gene_symbol: KCNE1
disease_id: OMIM:613695
disease_name: LONG QT SYNDROME 5
gene_symbol: NRCAM
disease_id: OMIM:619833
disease_name: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES
gene_symbol: ERCC6L2
disease_id: OMIM:615715
disease_name: BONE MARROW FAILURE SYNDROME 2
gene_symbol: SMN2
disease_id: OMIM:253400
disease_name: SPINAL MUSCULAR ATROPHY, TYPE III
gene_symbol: TLR7
disease_id: OMIM:301080
disease_name: SYSTEMIC LUPUS ERYTHEMATOSUS 17
gene_symbol: EIF2AK2
disease_id: OMIM:619687
disease_name: DYSTONIA 33
gene_symbol: PMP2
disease_id: OMIM:618279
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G
gene_symbol: LHB
disease_id: OMIM:228300
disease_name: HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA
gene_symbol: TTN
disease_id: OMIM:608807
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10
gene_symbol: INS
disease_id: OMIM:125852
disease_name: TYPE 1 DIABETES MELLITUS 2
gene_symbol: CNNM2
disease_id: OMIM:616418
disease_name: HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 1
gene_symbol: POPDC1
disease_id: OMIM:616812
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 25
gene_symbol: RNF216
disease_id: OMIM:212840
disease_name: GORDON HOLMES SYNDROME
gene_symbol: DGKE
disease_id: OMIM:615008
disease_name: NEPHROTIC SYNDROME, TYPE 7
gene_symbol: PRRT2
disease_id: OMIM:602066
disease_name: CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS
gene_symbol: RRAGD
disease_id: OMIM:620152
disease_name: HYPOMAGNESEMIA 7, RENAL, WITH OR WITHOUT DILATED CARDIOMYOPATHY
gene_symbol: SLC4A4
disease_id: OMIM:604278
disease_name: RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION
gene_symbol: TOR1AIP1
disease_id: OMIM:617072
disease_name: MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES
gene_symbol: STAT1
disease_id: OMIM:614162
disease_name: IMMUNODEFICIENCY 31C
gene_symbol: PRKRA
disease_id: OMIM:612067
disease_name: DYSTONIA 16
gene_symbol: PIK3R5
disease_id: OMIM:615217
disease_name: ATAXIA-OCULOMOTOR APRAXIA 3
gene_symbol: KCNJ2
disease_id: OMIM:170390
disease_name: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
gene_symbol: SPTLC1
disease_id: OMIM:620285
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 27, JUVENILE
gene_symbol: TLR8
disease_id: OMIM:301078
disease_name: IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED
gene_symbol: HTRA1
disease_id: OMIM:600142
disease_name: CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY
gene_symbol: DNAJC3
disease_id: OMIM:616192
disease_name: ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS
gene_symbol: WNT4
disease_id: OMIM:158330
disease_name: MULLERIAN APLASIA AND HYPERANDROGENISM
gene_symbol: TWNK
disease_id: OMIM:607459
disease_name: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS
gene_symbol: B2M
disease_id: OMIM:241600
disease_name: IMMUNODEFICIENCY 43
gene_symbol: LIG3
disease_id: OMIM:619780
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE)
gene_symbol: KCTD17
disease_id: OMIM:616398
disease_name: DYSTONIA 26, MYOCLONIC
gene_symbol: KCNJ5
disease_id: OMIM:613485
disease_name: LONG QT SYNDROME 13
gene_symbol: B4GALNT1
disease_id: OMIM:609195
disease_name: SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE
gene_symbol: ALG10B
disease_id: OMIM:613688
disease_name: LONG QT SYNDROME 2
gene_symbol: KCNH2
disease_id: OMIM:613688
disease_name: LONG QT SYNDROME 2
gene_symbol: TPP1
disease_id: OMIM:609270
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
gene_symbol: SEMA3A
disease_id: OMIM:614897
disease_name: HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA
gene_symbol: HROB
disease_id: OMIM:620897
disease_name: OMIM:620897
gene_symbol: SCARB2
disease_id: OMIM:254900
disease_name: EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE
gene_symbol: SNTA1
disease_id: OMIM:612955
disease_name: LONG QT SYNDROME 12
gene_symbol: GPIHBP1
disease_id: OMIM:615947
disease_name: HYPERLIPOPROTEINEMIA, TYPE ID
gene_symbol: P2RX2
disease_id: OMIM:608224
disease_name: DEAFNESS, AUTOSOMAL DOMINANT 41
gene_symbol: DSP
disease_id: OMIM:607450
disease_name: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8
gene_symbol: SOST
disease_id: OMIM:269500
disease_name: SCLEROSTEOSIS 1
gene_symbol: CHRNA1
disease_id: OMIM:601462
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
gene_symbol: ENG
disease_id: OMIM:187300
disease_name: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1
gene_symbol: GATA2
disease_id: OMIM:614172
disease_name: IMMUNODEFICIENCY 21
gene_symbol: SLC22A12
disease_id: OMIM:220150
disease_name: HYPOURICEMIA, RENAL, 1
gene_symbol: ATP6AP2
disease_id: OMIM:300911
disease_name: PARKINSONISM WITH SPASTICITY, X-LINKED
gene_symbol: SLC12A5
disease_id: OMIM:616685
disease_name: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14
gene_symbol: SYNJ1
disease_id: OMIM:615530
disease_name: PARKINSON DISEASE 20, EARLY-ONSET
gene_symbol: JAK2
disease_id: OMIM:263300
disease_name: POLYCYTHEMIA VERA
gene_symbol: FIG4
disease_id: OMIM:612691
disease_name: POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL
gene_symbol: RNASEH1
disease_id: OMIM:616479
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2
gene_symbol: KCNJ11
disease_id: OMIM:610582
disease_name: DIABETES MELLITUS, TRANSIENT NEONATAL, 3
gene_symbol: KCNJ11
disease_id: OMIM:616329
disease_name: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13
gene_symbol: TP53
disease_id: OMIM:260500
disease_name: PAPILLOMA OF CHOROID PLEXUS
gene_symbol: NDUFS2
disease_id: OMIM:620569
disease_name: LEBER-LIKE HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE 2
gene_symbol: GRN
disease_id: OMIM:614706
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 11
gene_symbol: YARS1
disease_id: OMIM:608323
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C
gene_symbol: H6PD
disease_id: OMIM:604931
disease_name: CORTISONE REDUCTASE DEFICIENCY 1
gene_symbol: PSEN1
disease_id: OMIM:600274
disease_name: FRONTOTEMPORAL DEMENTIA
gene_symbol: PSEN1
disease_id: OMIM:613694
disease_name: CARDIOMYOPATHY, DILATED, 1U
gene_symbol: CSF1R
disease_id: OMIM:221820
disease_name: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS
gene_symbol: ATXN3
disease_id: OMIM:109150
disease_name: MACHADO-JOSEPH DISEASE
gene_symbol: LBR
disease_id: OMIM:613471
disease_name: REYNOLDS SYNDROME
gene_symbol: CLCN2
disease_id: OMIM:615651
disease_name: LEUKOENCEPHALOPATHY WITH ATAXIA
gene_symbol: XRCC1
disease_id: OMIM:617633
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26
gene_symbol: PSEN2
disease_id: OMIM:613697
disease_name: CARDIOMYOPATHY, DILATED, 1V
gene_symbol: MME
disease_id: OMIM:617017
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T
gene_symbol: CYP27A1
disease_id: OMIM:213700
disease_name: CEREBROTENDINOUS XANTHOMATOSIS
gene_symbol: GDAP2
disease_id: OMIM:618369
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27
gene_symbol: ANXA11
disease_id: OMIM:619733
disease_name: INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES
gene_symbol: MYH7
disease_id: OMIM:255160
disease_name: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE
gene_symbol: HSPB1
disease_id: OMIM:606595
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
gene_symbol: NAGA
disease_id: OMIM:609242
disease_name: KANZAKI DISEASE
gene_symbol: DNM1L
disease_id: OMIM:610708
disease_name: OPTIC ATROPHY 5
gene_symbol: CAV3
disease_id: OMIM:611818
disease_name: LONG QT SYNDROME 9
gene_symbol: TMEM126B
disease_id: OMIM:618250
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29
gene_symbol: SCN3B
disease_id: OMIM:613120
disease_name: BRUGADA SYNDROME 7
gene_symbol: EPCAM
disease_id: OMIM:613244
disease_name: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8
gene_symbol: GFAP
disease_id: OMIM:203450
disease_name: ALEXANDER DISEASE
gene_symbol: POLG2
disease_id: OMIM:610131
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4
gene_symbol: CHCHD10
disease_id: OMIM:615048
disease_name: SPINAL MUSCULAR ATROPHY, JOKELA TYPE
gene_symbol: CHRNA2
disease_id: OMIM:610353
disease_name: EPILEPSY, NOCTURNAL FRONTAL LOBE, 4
gene_symbol: SAMD9L
disease_id: OMIM:619806
disease_name: SPINOCEREBELLAR ATAXIA 49
gene_symbol: PTEN
disease_id: OMIM:613028
disease_name: GLIOMA SUSCEPTIBILITY 2