Phenotype: Slowly progressive (HP:0003677)
Associated genes and diseases:
gene_symbol: FZD4
disease_id: OMIM:133780
disease_name: EXUDATIVE VITREORETINOPATHY 1
gene_symbol: LRP5
disease_id: OMIM:133780
disease_name: EXUDATIVE VITREORETINOPATHY 1
gene_symbol: SETX
disease_id: OMIM:602433
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE
gene_symbol: TIA1
disease_id: OMIM:604454
disease_name: WELANDER DISTAL MYOPATHY
gene_symbol: MARS1
disease_id: OMIM:616280
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U
gene_symbol: PLD3
disease_id: OMIM:617770
disease_name: SPINOCEREBELLAR ATAXIA 46
gene_symbol: MAG
disease_id: OMIM:616680
disease_name: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE
gene_symbol: ATP6AP2
disease_id: OMIM:300911
disease_name: PARKINSONISM WITH SPASTICITY, X-LINKED
gene_symbol: FZD6
disease_id: OMIM:161050
disease_name: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 1
gene_symbol: CPT1C
disease_id: OMIM:616282
disease_name: SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT
gene_symbol: DYNC1H1
disease_id: OMIM:158600
disease_name: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 1, AUTOSOMAL DOMINANT
gene_symbol: DYNC1H1
disease_id: OMIM:614228
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O
gene_symbol: SURF1
disease_id: OMIM:616684
disease_name: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K
gene_symbol: NLRP3
disease_id: OMIM:617772
disease_name: DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION
gene_symbol: TBC1D24
disease_id: OMIM:616044
disease_name: DEAFNESS, AUTOSOMAL DOMINANT 65
gene_symbol: TMEM43
disease_id: OMIM:614302
disease_name: EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT
gene_symbol: MORC2
disease_id: OMIM:616688
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z
gene_symbol: DDHD1
disease_id: OMIM:609340
disease_name: SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE
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: PYROXD1
disease_id: OMIM:617258
disease_name: MYOPATHY, MYOFIBRILLAR, 8
gene_symbol: CHCHD10
disease_id: OMIM:616209
disease_name: MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT
gene_symbol: CHCHD10
disease_id: OMIM:615048
disease_name: SPINAL MUSCULAR ATROPHY, JOKELA TYPE
gene_symbol: MCM2
disease_id: OMIM:616968
disease_name: DEAFNESS, AUTOSOMAL DOMINANT 70
gene_symbol: SMN1
disease_id: OMIM:271150
disease_name: SPINAL MUSCULAR ATROPHY, TYPE IV
gene_symbol: PDK3
disease_id: OMIM:300905
disease_name: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6
gene_symbol: VMA21
disease_id: OMIM:310440
disease_name: MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY
gene_symbol: DYSF
disease_id: OMIM:253601
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2
gene_symbol: SYNE1
disease_id: OMIM:610743
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8
gene_symbol: TEAD1
disease_id: OMIM:108985
disease_name: SVEINSSON CHORIORETINAL ATROPHY
gene_symbol: ALS2
disease_id: OMIM:606353
disease_name: PRIMARY LATERAL SCLEROSIS, JUVENILE
gene_symbol: ALS2
disease_id: OMIM:607225
disease_name: SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING
gene_symbol: CLCN5
disease_id: OMIM:308990
disease_name: PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS
gene_symbol: PMP22
disease_id: OMIM:180800
disease_name: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA
gene_symbol: PMP22
disease_id: OMIM:118220
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A
gene_symbol: MPZ
disease_id: OMIM:180800
disease_name: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA
gene_symbol: MPZ
disease_id: OMIM:118200
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B
gene_symbol: DNAJB6
disease_id: OMIM:603511
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1
gene_symbol: LMNA
disease_id: OMIM:181350
disease_name: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT
gene_symbol: CHKB
disease_id: OMIM:602541
disease_name: MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE
gene_symbol: KCNC3
disease_id: OMIM:605259
disease_name: SPINOCEREBELLAR ATAXIA 13
gene_symbol: CCDC88C
disease_id: OMIM:616053
disease_name: SPINOCEREBELLAR ATAXIA 40
gene_symbol: ATP7A
disease_id: OMIM:300489
disease_name: SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3
gene_symbol: CRPPA
disease_id: OMIM:616052
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7
gene_symbol: IBA57
disease_id: OMIM:616451
disease_name: SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE
gene_symbol: ACTA1
disease_id: OMIM:616852
disease_name: MYOPATHY, SCAPULOHUMEROPERONEAL
gene_symbol: ORAI1
disease_id: OMIM:615883
disease_name: MYOPATHY, TUBULAR AGGREGATE, 2
gene_symbol: TENM4
disease_id: OMIM:616736
disease_name: TREMOR, HEREDITARY ESSENTIAL, 5
gene_symbol: GRM1
disease_id: OMIM:614831
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13
gene_symbol: GRM1
disease_id: OMIM:617691
disease_name: SPINOCEREBELLAR ATAXIA 44
gene_symbol: LRSAM1
disease_id: OMIM:614436
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P
gene_symbol: KIF1A
disease_id: OMIM:610357
disease_name: SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT
gene_symbol: KIF1A
disease_id: OMIM:201300
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA
gene_symbol: DNAJC6
disease_id: OMIM:615528
disease_name: PARKINSON DISEASE 19A, JUVENILE-ONSET
gene_symbol: MYH7
disease_id: OMIM:160500
disease_name: MYOPATHY, DISTAL, 1
gene_symbol: MYH7
disease_id: OMIM:255160
disease_name: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE
gene_symbol: MYH7
disease_id: OMIM:608358
disease_name: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT
gene_symbol: TGM6
disease_id: OMIM:613908
disease_name: SPINOCEREBELLAR ATAXIA 35
gene_symbol: SPG21
disease_id: OMIM:248900
disease_name: MAST SYNDROME
gene_symbol: SLC5A7
disease_id: OMIM:158580
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA
gene_symbol: HSPB1
disease_id: OMIM:608634
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
gene_symbol: MECP2
disease_id: OMIM:300055
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13
gene_symbol: FRG1
disease_id: OMIM:158900
disease_name: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1
gene_symbol: MCM3AP
disease_id: OMIM:618124
disease_name: PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT
gene_symbol: ADSS1
disease_id: OMIM:617030
disease_name: MYOPATHY, DISTAL, 5
gene_symbol: AIFM1
disease_id: OMIM:300614
disease_name: DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY
gene_symbol: ALG14
disease_id: OMIM:616227
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 15
gene_symbol: TRIM32
disease_id: OMIM:254110
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8
gene_symbol: PDE8B
disease_id: OMIM:609161
disease_name: STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 1
gene_symbol: GDAP2
disease_id: OMIM:618369
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27
gene_symbol: PDYN
disease_id: OMIM:610245
disease_name: SPINOCEREBELLAR ATAXIA 23
gene_symbol: CLN8
disease_id: OMIM:610003
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT
gene_symbol: NDUFA13
disease_id: OMIM:618249
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28
gene_symbol: AFG3L2
disease_id: OMIM:610246
disease_name: SPINOCEREBELLAR ATAXIA 28
gene_symbol: ALG2
disease_id: OMIM:616228
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 14
gene_symbol: SLC25A4
disease_id: OMIM:615418
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE
gene_symbol: EMD
disease_id: OMIM:310300
disease_name: EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED
gene_symbol: LRP12
disease_id: OMIM:164310
disease_name: OCULOPHARYNGODISTAL MYOPATHY 1
gene_symbol: SPG11
disease_id: OMIM:602099
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE
gene_symbol: SPG11
disease_id: OMIM:616668
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X
gene_symbol: MYOT
disease_id: OMIM:609200
disease_name: MYOPATHY, MYOFIBRILLAR, 3
gene_symbol: PRKCG
disease_id: OMIM:605361
disease_name: SPINOCEREBELLAR ATAXIA 14
gene_symbol: ALDH18A1
disease_id: OMIM:601162
disease_name: SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT
gene_symbol: GBE1
disease_id: OMIM:263570
disease_name: POLYGLUCOSAN BODY NEUROPATHY, ADULT FORM
gene_symbol: PARK7
disease_id: OMIM:606324
disease_name: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
gene_symbol: SPTBN2
disease_id: OMIM:600224
disease_name: SPINOCEREBELLAR ATAXIA 5
gene_symbol: SPTBN2
disease_id: OMIM:615386
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14
gene_symbol: GJB1
disease_id: OMIM:302800
disease_name: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1
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: KBTBD13
disease_id: OMIM:609273
disease_name: NEMALINE MYOPATHY 6
gene_symbol: WARS1
disease_id: OMIM:617721
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IX
gene_symbol: ABHD12
disease_id: OMIM:612674
disease_name: POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT
gene_symbol: HNRNPA1
disease_id: OMIM:610099
disease_name: MYOPATHY, DISTAL, 3
gene_symbol: RFC1
disease_id: OMIM:614575
disease_name: CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME
gene_symbol: RNASET2
disease_id: OMIM:612951
disease_name: LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY
gene_symbol: LAMA2
disease_id: OMIM:618138
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23
gene_symbol: DAB1
disease_id: OMIM:615945
disease_name: SPINOCEREBELLAR ATAXIA 37
gene_symbol: TPP1
disease_id: OMIM:609270
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
gene_symbol: ERLIN2
disease_id: OMIM:611225
disease_name: SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE
gene_symbol: DARS2
disease_id: OMIM:611105
disease_name: LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION
gene_symbol: HEPACAM
disease_id: OMIM:613925
disease_name: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A
gene_symbol: FLVCR1
disease_id: OMIM:609033
disease_name: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
gene_symbol: SLC34A2
disease_id: OMIM:265100
disease_name: PULMONARY ALVEOLAR MICROLITHIASIS
gene_symbol: POMT1
disease_id: OMIM:609308
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1
gene_symbol: TTN
disease_id: OMIM:603689
disease_name: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE
gene_symbol: TTN
disease_id: OMIM:600334
disease_name: TIBIAL MUSCULAR DYSTROPHY, TARDIVE
gene_symbol: EEF2
disease_id: OMIM:609306
disease_name: SPINOCEREBELLAR ATAXIA 26
gene_symbol: COA7
disease_id: OMIM:618387
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3
gene_symbol: PINK1
disease_id: OMIM:605909
disease_name: PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET
gene_symbol: AP4B1
disease_id: OMIM:614066
disease_name: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE
gene_symbol: DNA2
disease_id: OMIM:615156
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6
gene_symbol: FLNC
disease_id: OMIM:614065
disease_name: MYOPATHY, DISTAL, 4
gene_symbol: FLNC
disease_id: OMIM:609524
disease_name: MYOPATHY, MYOFIBRILLAR, 5
gene_symbol: HSPB3
disease_id: OMIM:613376
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC
gene_symbol: CWF19L1
disease_id: OMIM:616127
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17
gene_symbol: MFN2
disease_id: OMIM:609260
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
gene_symbol: MYPN
disease_id: OMIM:617336
disease_name: NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE
gene_symbol: DZIP1L
disease_id: OMIM:617610
disease_name: POLYCYSTIC KIDNEY DISEASE 5
gene_symbol: SYT14
disease_id: OMIM:614229
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11
gene_symbol: PEX2
disease_id: OMIM:614867
disease_name: PEROXISOME BIOGENESIS DISORDER 5B
gene_symbol: DCTN1
disease_id: OMIM:607641
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB
gene_symbol: ELOVL5
disease_id: OMIM:615957
disease_name: SPINOCEREBELLAR ATAXIA 38
gene_symbol: FN1
disease_id: OMIM:601894
disease_name: GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2
gene_symbol: DNM1L
disease_id: OMIM:610708
disease_name: OPTIC ATROPHY 5
gene_symbol: ACTN4
disease_id: OMIM:603278
disease_name: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1
gene_symbol: HPCA
disease_id: OMIM:224500
disease_name: DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE
gene_symbol: MTMR14
disease_id: OMIM:160150
disease_name: MYOPATHY, CENTRONUCLEAR, 1
gene_symbol: DNM2
disease_id: OMIM:160150
disease_name: MYOPATHY, CENTRONUCLEAR, 1
gene_symbol: ATP1A1
disease_id: OMIM:618036
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD
gene_symbol: PMP2
disease_id: OMIM:618279
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G
gene_symbol: KIF1B
disease_id: OMIM:118210
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1
gene_symbol: RYR1
disease_id: OMIM:117000
disease_name: CENTRAL CORE DISEASE OF MUSCLE
gene_symbol: C19orf12
disease_id: OMIM:615043
disease_name: SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE
gene_symbol: DPAGT1
disease_id: OMIM:614750
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 13
gene_symbol: PEX10
disease_id: OMIM:614871
disease_name: PEROXISOME BIOGENESIS DISORDER 6B
gene_symbol: TFG
disease_id: OMIM:604484
disease_name: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, OKINAWA TYPE
gene_symbol: PNPLA2
disease_id: OMIM:610717
disease_name: NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY
gene_symbol: GARS1
disease_id: OMIM:600794
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA
gene_symbol: GARS1
disease_id: OMIM:601472
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D
gene_symbol: ITPR1
disease_id: OMIM:606658
disease_name: SPINOCEREBELLAR ATAXIA 15
gene_symbol: TOR1AIP1
disease_id: OMIM:617072
disease_name: MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES
gene_symbol: PLP1
disease_id: OMIM:312080
disease_name: PELIZAEUS-MERZBACHER DISEASE
gene_symbol: KY
disease_id: OMIM:617114
disease_name: MYOPATHY, MYOFIBRILLAR, 7
gene_symbol: DNAJB2
disease_id: OMIM:614881
disease_name: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5
gene_symbol: POGLUT1
disease_id: OMIM:617232
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 21
gene_symbol: MTPAP
disease_id: OMIM:613672
disease_name: SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE
gene_symbol: LRRK2
disease_id: OMIM:607060
disease_name: PARKINSON DISEASE 8, AUTOSOMAL DOMINANT
gene_symbol: FBXO38
disease_id: OMIM:615575
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID
gene_symbol: CFL2
disease_id: OMIM:610687
disease_name: NEMALINE MYOPATHY 7
gene_symbol: VWA3B
disease_id: OMIM:616948
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22
gene_symbol: KCND3
disease_id: OMIM:607346
disease_name: SPINOCEREBELLAR ATAXIA 19
gene_symbol: BSCL2
disease_id: OMIM:270685
disease_name: SPASTIC PARAPLEGIA 17, AUTOSOMAL DOMINANT
gene_symbol: GAN
disease_id: OMIM:256850
disease_name: GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE
gene_symbol: WNK1
disease_id: OMIM:201300
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA
gene_symbol: RETREG1
disease_id: OMIM:201300
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA
gene_symbol: SCN9A
disease_id: OMIM:201300
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA
gene_symbol: GNB4
disease_id: OMIM:615185
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F
gene_symbol: CACNA1G
disease_id: OMIM:616795
disease_name: SPINOCEREBELLAR ATAXIA 42
gene_symbol: FBXO7
disease_id: OMIM:260300
disease_name: PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET
gene_symbol: NEFL
disease_id: OMIM:617882
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G
gene_symbol: COL6A1
disease_id: OMIM:158810
disease_name: BETHLEM MYOPATHY 1
gene_symbol: IGHMBP2
disease_id: OMIM:616155
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S
gene_symbol: MAP3K20
disease_id: OMIM:617760
disease_name: MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION
gene_symbol: SIGMAR1
disease_id: OMIM:614373
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE
gene_symbol: PRX
disease_id: OMIM:614895
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F
gene_symbol: COX6A1
disease_id: OMIM:616039
disease_name: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D
gene_symbol: REEP2
disease_id: OMIM:615625
disease_name: SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE
gene_symbol: FAT2
disease_id: OMIM:617769
disease_name: SPINOCEREBELLAR ATAXIA 45
gene_symbol: AR
disease_id: OMIM:313200
disease_name: SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1
gene_symbol: TMEM240
disease_id: OMIM:607454
disease_name: SPINOCEREBELLAR ATAXIA 21
gene_symbol: NOL3
disease_id: OMIM:614937
disease_name: MYOCLONUS, FAMILIAL, 1
gene_symbol: HNRNPDL
disease_id: OMIM:609115
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 3
gene_symbol: MYMK
disease_id: OMIM:254940
disease_name: CAREY-FINEMAN-ZITER SYNDROME
gene_symbol: STIM1
disease_id: OMIM:160565
disease_name: MYOPATHY, TUBULAR AGGREGATE, 1