Phenotype: Middle age onset (HP:0003596)
Associated genes and diseases:
gene_symbol: MLH1
disease_id: OMIM:158320
disease_name: MUIR-TORRE SYNDROME
gene_symbol: MSH2
disease_id: OMIM:158320
disease_name: MUIR-TORRE SYNDROME
gene_symbol: SNCA
disease_id: OMIM:605543
disease_name: PARKINSON DISEASE 4, AUTOSOMAL DOMINANT
gene_symbol: ATP6AP2
disease_id: OMIM:300911
disease_name: PARKINSONISM WITH SPASTICITY, X-LINKED
gene_symbol: UQCRC1
disease_id: OMIM:619279
disease_name: PARKINSONISM WITH POLYNEUROPATHY
gene_symbol: SCN5A
disease_id: OMIM:614022
disease_name: ATRIAL FIBRILLATION, FAMILIAL, 10
gene_symbol: BBS2
disease_id: OMIM:616562
disease_name: RETINITIS PIGMENTOSA 74
gene_symbol: NEK1
disease_id: OMIM:617892
disease_name: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24
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: MATR3
disease_id: OMIM:606070
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 21
gene_symbol: VCP
disease_id: OMIM:616687
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y
gene_symbol: VCP
disease_id: OMIM:167320
disease_name: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1
gene_symbol: VCP
disease_id: OMIM:613954
disease_name: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6
gene_symbol: LAMA4
disease_id: OMIM:615235
disease_name: CARDIOMYOPATHY, DILATED, 1JJ
gene_symbol: CHCHD10
disease_id: OMIM:615911
disease_name: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2
gene_symbol: CHCHD10
disease_id: OMIM:615048
disease_name: SPINAL MUSCULAR ATROPHY, JOKELA TYPE
gene_symbol: TUBA4A
disease_id: OMIM:616208
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
gene_symbol: PDK3
disease_id: OMIM:300905
disease_name: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6
gene_symbol: STT3A
disease_id: OMIM:619714
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT
gene_symbol: RAF1
disease_id: OMIM:615916
disease_name: CARDIOMYOPATHY, DILATED, 1NN
gene_symbol: LMNA
disease_id: OMIM:181350
disease_name: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT
gene_symbol: LMNA
disease_id: OMIM:115200
disease_name: CARDIOMYOPATHY, DILATED, 1A
gene_symbol: PDGFB
disease_id: OMIM:615483
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5
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: MYPN
disease_id: OMIM:617336
disease_name: NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE
gene_symbol: KCNJ2
disease_id: OMIM:613980
disease_name: ATRIAL FIBRILLATION, FAMILIAL, 9
gene_symbol: CLN6
disease_id: OMIM:204300
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE
gene_symbol: DSC2
disease_id: OMIM:610476
disease_name: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11
gene_symbol: PDGFRB
disease_id: OMIM:615007
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4
gene_symbol: NPTX1
disease_id: OMIM:620158
disease_name: SPINOCEREBELLAR ATAXIA 50
gene_symbol: TERT
disease_id: OMIM:613989
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
gene_symbol: MOCOS
disease_id: OMIM:603592
disease_name: XANTHINURIA, TYPE II
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: FHL1
disease_id: OMIM:300695
disease_name: SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
gene_symbol: VPS16
disease_id: OMIM:619291
disease_name: DYSTONIA 30
gene_symbol: SFTPA1
disease_id: OMIM:619611
disease_name: INTERSTITIAL LUNG DISEASE 1
gene_symbol: PLEKHG5
disease_id: OMIM:615376
disease_name: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C
gene_symbol: RRM2B
disease_id: OMIM:613077
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5
gene_symbol: ZNF408
disease_id: OMIM:616469
disease_name: RETINITIS PIGMENTOSA 72
gene_symbol: ZNF408
disease_id: OMIM:616468
disease_name: EXUDATIVE VITREORETINOPATHY 6
gene_symbol: NRL
disease_id: OMIM:613750
disease_name: RETINITIS PIGMENTOSA 27
gene_symbol: GJA5
disease_id: OMIM:614049
disease_name: ATRIAL FIBRILLATION, FAMILIAL, 11
gene_symbol: SCN1B
disease_id: OMIM:615377
disease_name: ATRIAL FIBRILLATION, FAMILIAL, 13
gene_symbol: SCN2B
disease_id: OMIM:615378
disease_name: ATRIAL FIBRILLATION, FAMILIAL, 14
gene_symbol: DYRK1B
disease_id: OMIM:615812
disease_name: ABDOMINAL OBESITY-METABOLIC SYNDROME 3
gene_symbol: MBD4
disease_id: OMIM:619975
disease_name: TUMOR PREDISPOSITION SYNDROME 2
gene_symbol: ANXA11
disease_id: OMIM:619733
disease_name: INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES
gene_symbol: ANXA11
disease_id: OMIM:617839
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 23
gene_symbol: PLN
disease_id: OMIM:613874
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18
gene_symbol: PDYN
disease_id: OMIM:610245
disease_name: SPINOCEREBELLAR ATAXIA 23
gene_symbol: CMPK2
disease_id: OMIM:621018
disease_name: OMIM:621018
gene_symbol: HKDC1
disease_id: OMIM:619614
disease_name: RETINITIS PIGMENTOSA 92
gene_symbol: CLEC3B
disease_id: OMIM:619977
disease_name: MACULAR DYSTROPHY, RETINAL, 4
gene_symbol: LRP12
disease_id: OMIM:164310
disease_name: OCULOPHARYNGODISTAL MYOPATHY 1
gene_symbol: LRP12
disease_id: OMIM:620452
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 28
gene_symbol: RIPOR2
disease_id: OMIM:607017
disease_name: DEAFNESS, AUTOSOMAL DOMINANT 21
gene_symbol: ABCC9
disease_id: OMIM:614050
disease_name: ATRIAL FIBRILLATION, FAMILIAL, 12
gene_symbol: ABCC9
disease_id: OMIM:608569
disease_name: CARDIOMYOPATHY, DILATED, 1O
gene_symbol: BMPR2
disease_id: OMIM:178600
disease_name: PULMONARY HYPERTENSION, PRIMARY, 1
gene_symbol: POLRMT
disease_id: OMIM:619743
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55
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: RNASEH1
disease_id: OMIM:616479
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2
gene_symbol: BAG3
disease_id: OMIM:613881
disease_name: CARDIOMYOPATHY, DILATED, 1HH
gene_symbol: DAB1
disease_id: OMIM:615945
disease_name: SPINOCEREBELLAR ATAXIA 37
gene_symbol: CORIN
disease_id: OMIM:620734
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 30, ATRIAL
gene_symbol: SDHD
disease_id: OMIM:168000
disease_name: PARAGANGLIOMAS 1
gene_symbol: TBX18
disease_id: OMIM:143400
disease_name: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2
gene_symbol: AP5Z1
disease_id: OMIM:613647
disease_name: SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE
gene_symbol: TBP
disease_id: OMIM:607136
disease_name: SPINOCEREBELLAR ATAXIA 17
gene_symbol: NOTCH3
disease_id: OMIM:125310
disease_name: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
gene_symbol: WASHC5
disease_id: OMIM:603563
disease_name: SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT
gene_symbol: FTL
disease_id: OMIM:606159
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3
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: PKHD1
disease_id: OMIM:263200
disease_name: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
gene_symbol: PHKA1
disease_id: OMIM:300559
disease_name: GLYCOGEN STORAGE DISEASE, TYPE IXd
gene_symbol: TTC19
disease_id: OMIM:615157
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: PIGT
disease_id: OMIM:615399
disease_name: PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2
gene_symbol: NPPA
disease_id: OMIM:612201
disease_name: ATRIAL FIBRILLATION, FAMILIAL, 6
gene_symbol: CADM3
disease_id: OMIM:619519
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF
gene_symbol: MAFA
disease_id: OMIM:147630
disease_name: INSULINOMATOSIS AND DIABETES MELLITUS
gene_symbol: TNNT2
disease_id: OMIM:115195
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2
gene_symbol: TNNT2
disease_id: OMIM:601494
disease_name: CARDIOMYOPATHY, DILATED, 1D
gene_symbol: ELOVL5
disease_id: OMIM:615957
disease_name: SPINOCEREBELLAR ATAXIA 38
gene_symbol: AAGAB
disease_id: OMIM:148600
disease_name: PALMOPLANTAR KERATODERMA, PUNCTATE TYPE IA
gene_symbol: DNM1L
disease_id: OMIM:610708
disease_name: OPTIC ATROPHY 5
gene_symbol: NF1
disease_id: OMIM:162210
disease_name: NEUROFIBROMATOSIS, FAMILIAL SPINAL
gene_symbol: NAGLU
disease_id: OMIM:616491
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V
gene_symbol: KIF1B
disease_id: OMIM:118210
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1
gene_symbol: MSH3
disease_id: OMIM:617100
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 4
gene_symbol: CFH
disease_id: OMIM:126700
disease_name: BASAL LAMINAR DRUSEN
gene_symbol: SLC37A4
disease_id: OMIM:619525
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw
gene_symbol: RPA1
disease_id: OMIM:619767
disease_name: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 6
gene_symbol: POPDC1
disease_id: OMIM:616812
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 25
gene_symbol: ITPR1
disease_id: OMIM:117360
disease_name: SPINOCEREBELLAR ATAXIA 29
gene_symbol: ITPR1
disease_id: OMIM:606658
disease_name: SPINOCEREBELLAR ATAXIA 15
gene_symbol: TBK1
disease_id: OMIM:617900
disease_name: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8
gene_symbol: MYORG
disease_id: OMIM:618317
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE
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: MAPT
disease_id: OMIM:600274
disease_name: FRONTOTEMPORAL DEMENTIA
gene_symbol: UMOD
disease_id: OMIM:162000
disease_name: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1
gene_symbol: CSF1R
disease_id: OMIM:221820
disease_name: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS
gene_symbol: COL4A1
disease_id: OMIM:618564
disease_name: MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT
gene_symbol: KCNE2
disease_id: OMIM:611493
disease_name: ATRIAL FIBRILLATION, FAMILIAL, 4
gene_symbol: JAK2
disease_id: OMIM:263300
disease_name: POLYCYTHEMIA VERA
gene_symbol: RRM1
disease_id: OMIM:620647
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 6
gene_symbol: OPTN
disease_id: OMIM:613435
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 12 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
gene_symbol: SMAD2
disease_id: OMIM:619656
disease_name: LOEYS-DIETZ SYNDROME 6
gene_symbol: SAMD7
disease_id: OMIM:620762
disease_name: MACULAR DYSTROPHY WITH OR WITHOUT CONE DYSFUNCTION
gene_symbol: KCND3
disease_id: OMIM:607346
disease_name: SPINOCEREBELLAR ATAXIA 19
gene_symbol: KCND3
disease_id: OMIM:616399
disease_name: BRUGADA SYNDROME 9
gene_symbol: ANO5
disease_id: OMIM:613319
disease_name: MIYOSHI MUSCULAR DYSTROPHY 3
gene_symbol: ANO5
disease_id: OMIM:611307
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12
gene_symbol: TGFBI
disease_id: OMIM:121820
disease_name: CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE
gene_symbol: APP
disease_id: OMIM:605714
disease_name: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED
gene_symbol: NT5C3A
disease_id: OMIM:266120
disease_name: URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO
gene_symbol: HTRA1
disease_id: OMIM:600142
disease_name: CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY
gene_symbol: HTRA1
disease_id: OMIM:616779
disease_name: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2
gene_symbol: SMPX
disease_id: OMIM:301075
disease_name: MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED
gene_symbol: VAPB
disease_id: OMIM:182980
disease_name: SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE
gene_symbol: VAPB
disease_id: OMIM:608627
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 8
gene_symbol: CRYAB
disease_id: OMIM:615184
disease_name: CARDIOMYOPATHY, DILATED, 1II
gene_symbol: GNB4
disease_id: OMIM:615185
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F
gene_symbol: IMPG2
disease_id: OMIM:616152
disease_name: MACULAR DYSTROPHY, VITELLIFORM, 5
gene_symbol: TTLL5
disease_id: OMIM:615860
disease_name: CONE-ROD DYSTROPHY 19
gene_symbol: KIF5A
disease_id: OMIM:617921
disease_name: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25
gene_symbol: CHCHD2
disease_id: OMIM:616710
disease_name: PARKINSON DISEASE 22, AUTOSOMAL DOMINANT
gene_symbol: LYZ
disease_id: OMIM:620658
disease_name: AMYLOIDOSIS, HEREDITARY SYSTEMIC 5
gene_symbol: APOA1
disease_id: OMIM:620657
disease_name: AMYLOIDOSIS, HEREDITARY SYSTEMIC 3
gene_symbol: TMEM240
disease_id: OMIM:607454
disease_name: SPINOCEREBELLAR ATAXIA 21
gene_symbol: DES
disease_id: OMIM:181400
disease_name: SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE
gene_symbol: TOR1A
disease_id: OMIM:128100
disease_name: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
gene_symbol: GBF1
disease_id: OMIM:606483
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE A
gene_symbol: CHRNA1
disease_id: OMIM:601462
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
gene_symbol: MARS1
disease_id: OMIM:616280
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U
gene_symbol: MARS2
disease_id: OMIM:611390
disease_name: SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE
gene_symbol: KCNA5
disease_id: OMIM:612240
disease_name: ATRIAL FIBRILLATION, FAMILIAL, 7
gene_symbol: MME
disease_id: OMIM:617018
disease_name: SPINOCEREBELLAR ATAXIA 43
gene_symbol: MME
disease_id: OMIM:617017
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T
gene_symbol: PSEN2
disease_id: OMIM:613697
disease_name: CARDIOMYOPATHY, DILATED, 1V
gene_symbol: PSEN2
disease_id: OMIM:606889
disease_name: ALZHEIMER DISEASE 4
gene_symbol: VPS13C
disease_id: OMIM:616840
disease_name: PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET
gene_symbol: ERBB4
disease_id: OMIM:615515
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 19
gene_symbol: COQ4
disease_id: OMIM:620666
disease_name: SPASTIC ATAXIA 10, AUTOSOMAL RECESSIVE
gene_symbol: VRK1
disease_id: OMIM:620542
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 10
gene_symbol: POLG
disease_id: OMIM:258450
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
gene_symbol: POLG
disease_id: OMIM:157640
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1
gene_symbol: HSPB1
disease_id: OMIM:606595
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
gene_symbol: FBLN5
disease_id: OMIM:608895
disease_name: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION
gene_symbol: FBN1
disease_id: OMIM:129600
disease_name: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
gene_symbol: CNBP
disease_id: OMIM:602668
disease_name: MYOTONIC DYSTROPHY 2
gene_symbol: MFSD8
disease_id: OMIM:616170
disease_name: MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT
gene_symbol: UBA1
disease_id: OMIM:301054
disease_name: VEXAS SYNDROME
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: CCDC88C
disease_id: OMIM:616053
disease_name: SPINOCEREBELLAR ATAXIA 40
gene_symbol: ATXN10
disease_id: OMIM:603516
disease_name: SPINOCEREBELLAR ATAXIA 10
gene_symbol: GATAD1
disease_id: OMIM:614672
disease_name: CARDIOMYOPATHY, DILATED, 2B
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: RP1L1
disease_id: OMIM:613587
disease_name: OCCULT MACULAR DYSTROPHY
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: TRPM7
disease_id: OMIM:105500
disease_name: AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1
gene_symbol: LMX1B
disease_id: OMIM:256020
disease_name: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 10
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: MIEF1
disease_id: OMIM:620550
disease_name: OPTIC ATROPHY 14
gene_symbol: TGM6
disease_id: OMIM:613908
disease_name: SPINOCEREBELLAR ATAXIA 35
gene_symbol: PRKN
disease_id: OMIM:600116
disease_name: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
gene_symbol: SNORD118
disease_id: OMIM:614561
disease_name: LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS
gene_symbol: CLCN2
disease_id: OMIM:615651
disease_name: LEUKOENCEPHALOPATHY WITH ATAXIA
gene_symbol: UBQLN2
disease_id: OMIM:300857
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 15 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
gene_symbol: PDE8B
disease_id: OMIM:609161
disease_name: STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 1
gene_symbol: BAP1
disease_id: OMIM:614327
disease_name: TUMOR PREDISPOSITION SYNDROME
gene_symbol: DNAJB4
disease_id: OMIM:620326
disease_name: CONGENITAL MYOPATHY 21 WITH EARLY RESPIRATORY FAILURE
gene_symbol: CDH2
disease_id: OMIM:618920
disease_name: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14
gene_symbol: PYGM
disease_id: OMIM:232600
disease_name: GLYCOGEN STORAGE DISEASE V
gene_symbol: KCNJ18
disease_id: OMIM:613239
disease_name: THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2
gene_symbol: CAPN3
disease_id: OMIM:618129
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4
gene_symbol: KLHL7
disease_id: OMIM:612943
disease_name: RETINITIS PIGMENTOSA 42
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: HLA-DQB1
disease_id: OMIM:123400
disease_name: CREUTZFELDT-JAKOB DISEASE
gene_symbol: PRNP
disease_id: OMIM:123400
disease_name: CREUTZFELDT-JAKOB DISEASE
gene_symbol: PRNP
disease_id: OMIM:606688
disease_name: SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES
gene_symbol: GBE1
disease_id: OMIM:263570
disease_name: POLYGLUCOSAN BODY NEUROPATHY, ADULT FORM
gene_symbol: CYP7B1
disease_id: OMIM:270800
disease_name: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE
gene_symbol: FLNC
disease_id: OMIM:617047
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
gene_symbol: ITM2B
disease_id: OMIM:616079
disease_name: RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES
gene_symbol: LOX
disease_id: OMIM:617168
disease_name: AORTIC ANEURYSM, FAMILIAL THORACIC 10
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: 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: HNRNPA1
disease_id: OMIM:615424
disease_name: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3
gene_symbol: TNNC1
disease_id: OMIM:613243
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13
gene_symbol: TNNC1
disease_id: OMIM:611879
disease_name: CARDIOMYOPATHY, DILATED, 1Z
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: TSPOAP1
disease_id: OMIM:620456
disease_name: DYSTONIA 22, ADULT-ONSET
gene_symbol: RNF170
disease_id: OMIM:608984
disease_name: ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT
gene_symbol: TTN
disease_id: OMIM:604145
disease_name: CARDIOMYOPATHY, DILATED, 1G
gene_symbol: H6PD
disease_id: OMIM:604931
disease_name: CORTISONE REDUCTASE DEFICIENCY 1
gene_symbol: JPH3
disease_id: OMIM:606438
disease_name: HUNTINGTON DISEASE-LIKE 2
gene_symbol: SCO2
disease_id: OMIM:604377
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: DRD5
disease_id: OMIM:606798
disease_name: BLEPHAROSPASM, BENIGN ESSENTIAL, SUSCEPTIBILITY TO
gene_symbol: LRIF1
disease_id: OMIM:619477
disease_name: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC
gene_symbol: NOTCH2NLC
disease_id: OMIM:619473
disease_name: OCULOPHARYNGODISTAL MYOPATHY 3
gene_symbol: MYH6
disease_id: OMIM:613252
disease_name: CARDIOMYOPATHY, DILATED, 1EE
gene_symbol: VCL
disease_id: OMIM:613255
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15
gene_symbol: VCL
disease_id: OMIM:611407
disease_name: CARDIOMYOPATHY, DILATED, 1W
gene_symbol: NEK8
disease_id: OMIM:620903
disease_name: OMIM:620903
gene_symbol: USP48
disease_id: OMIM:620227
disease_name: DEAFNESS, AUTOSOMAL DOMINANT 85
gene_symbol: RAX2
disease_id: OMIM:620102
disease_name: RETINITIS PIGMENTOSA 95
gene_symbol: UNC119
disease_id: OMIM:620342
disease_name: CONE-ROD DYSTROPHY 24
gene_symbol: TPM1
disease_id: OMIM:611878
disease_name: CARDIOMYOPATHY, DILATED, 1Y
gene_symbol: BRCA1
disease_id: OMIM:604370
disease_name: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
gene_symbol: CTNNA1
disease_id: OMIM:608970
disease_name: MACULAR DYSTROPHY, PATTERNED, 2
gene_symbol: HAVCR2
disease_id: OMIM:618398
disease_name: T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE
gene_symbol: SEC23B
disease_id: OMIM:224100
disease_name: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE II
gene_symbol: TK2
disease_id: OMIM:617069
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3
gene_symbol: KNG1
disease_id: OMIM:619363
disease_name: ANGIOEDEMA, HEREDITARY, 6
gene_symbol: VPS13A
disease_id: OMIM:200150
disease_name: CHOREOACANTHOCYTOSIS
gene_symbol: ATP2B2
disease_id: OMIM:619804
disease_name: DEAFNESS, AUTOSOMAL DOMINANT 82
gene_symbol: SAMD9L
disease_id: OMIM:619806
disease_name: SPINOCEREBELLAR ATAXIA 49
gene_symbol: CACNA1I
disease_id: OMIM:620114
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND WITH OR WITHOUT SEIZURES
gene_symbol: DNMT1
disease_id: OMIM:604121
disease_name: CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
gene_symbol: ITPR3
disease_id: OMIM:620111
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1J
gene_symbol: RBM12
disease_id: OMIM:617629
disease_name: SCHIZOPHRENIA 19
gene_symbol: ELOVL4
disease_id: OMIM:133190
disease_name: SPINOCEREBELLAR ATAXIA 34
gene_symbol: LITAF
disease_id: OMIM:601098
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C
gene_symbol: MAP1B
disease_id: OMIM:619808
disease_name: DEAFNESS, AUTOSOMAL DOMINANT 83
gene_symbol: SPG11
disease_id: OMIM:604360
disease_name: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE
gene_symbol: PSAP
disease_id: OMIM:619491
disease_name: PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
gene_symbol: CHMP2B
disease_id: OMIM:600795
disease_name: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 7
gene_symbol: DGUOK
disease_id: OMIM:617070
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4
gene_symbol: SDHA
disease_id: OMIM:619259
disease_name: NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY
gene_symbol: CYLD
disease_id: OMIM:619132
disease_name: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8
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: HGSNAT
disease_id: OMIM:616544
disease_name: RETINITIS PIGMENTOSA 73
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: NAF1
disease_id: OMIM:620365
disease_name: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 7
gene_symbol: BMP6
disease_id: OMIM:620121
disease_name: IRON OVERLOAD, SUSCEPTIBILITY TO
gene_symbol: SMPD1
disease_id: OMIM:607616
disease_name: NIEMANN-PICK DISEASE, TYPE B
gene_symbol: APOE
disease_id: OMIM:606889
disease_name: ALZHEIMER DISEASE 4
gene_symbol: MPZ
disease_id: OMIM:607736
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J
gene_symbol: CCNF
disease_id: OMIM:619141
disease_name: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5
gene_symbol: GANAB
disease_id: OMIM:600666
disease_name: POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
gene_symbol: RPGR
disease_id: OMIM:300029
disease_name: RETINITIS PIGMENTOSA 3
gene_symbol: CAV1
disease_id: OMIM:615343
disease_name: PULMONARY HYPERTENSION, PRIMARY, 3
gene_symbol: NEFL
disease_id: OMIM:617882
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G
gene_symbol: EIF4G1
disease_id: OMIM:614251
disease_name: PARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
gene_symbol: TNNI3
disease_id: OMIM:613286
disease_name: CARDIOMYOPATHY, DILATED, 1FF
gene_symbol: THSD4
disease_id: OMIM:619825
disease_name: AORTIC ANEURYSM, FAMILIAL THORACIC 12
gene_symbol: TAPBP
disease_id: OMIM:620814
disease_name: MHC CLASS I DEFICIENCY 3
gene_symbol: AARS1
disease_id: OMIM:613287
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N
gene_symbol: KCNK3
disease_id: OMIM:615344
disease_name: PULMONARY HYPERTENSION, PRIMARY, 4
gene_symbol: FAT2
disease_id: OMIM:617769
disease_name: SPINOCEREBELLAR ATAXIA 45
gene_symbol: THSD1
disease_id: OMIM:618734
disease_name: ANEURYSM, INTRACRANIAL BERRY, 12
gene_symbol: NOL3
disease_id: OMIM:614937
disease_name: MYOCLONUS, FAMILIAL, 1
gene_symbol: HMGCR
disease_id: OMIM:620375
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28
gene_symbol: MARCHF6
disease_id: OMIM:613608
disease_name: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 3
gene_symbol: PRDX1
disease_id: OMIM:277400
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
gene_symbol: MMACHC
disease_id: OMIM:277400
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
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