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["Gene ","Associated Disease","Category"]
["AGGF1","Klippel-Trenaunay syndrome (KTS) [MIM:149000] ","DISCC"]
["AHI1","Joubert syndrome type 3 (JBTS3) [MIM:608629]","DISCC"]
["ARHGEF10","Slowed nerve conduction velocity (SNCV) [MIM:608236]","DISCC"]
["ARL13B","Joubert syndrome type 8 (JBTS8) [MIM:612291]","DISCC"]
["CEP152","Microcephaly primary type 4 (MCPH4) [MIM:604321]","DISCC"]
["DCTN1","Distal hereditary motor neuronopathy type 7B (HMN7B) [MIM:607641]","DISCC"]
["DCTN1","Perry syndrome (PERRYS) [MIM:168605]","DISCC"]
["DTNA","Left ventricular non-compaction type 1 (LVNC1) [MIM:604169]","DISCC"]
["ESPN","Deafness autosomal dominant without vestibular involvement (DFNAWVI) [MIM:606351]","DISCC"]
["FGA","Amyloidosis type 8 (AMYL8) [MIM:105200]","DISCC"]
["FOXP2","Speech-language disorder 1 (SPCH1) [MIM:602081]","DISCC"]
["FRMD7","Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700]","DISCC"]
["GLE1","Lethal congenital contracture syndrome type 1 (LCCS1) [MIM:253310]","DISCC"]
["GLE1","Lethal arthrogryposis with anterior horn cell disease (LAAHD) [MIM:611890]","DISCC"]
["INF2","Focal segmental glomerulosclerosis type 5 (FSGS5) [MIM:613237]","DISCC"]
["IQSEC2","Mental retardation X-linked type 1 (MRX1) [MIM:309530]","DISCC"]
["KIF21A","Congenital fibrosis of extraocular muscles type 1 (CFEOM1) [MIM:135700]","DISCC"]
["KIF5A","Spastic paraplegia autosomal dominant type 10 (SPG10) [MIM:604187]","DISCC"]
["MLPH","Griscelli syndrome type 3 (GS3) [MIM:609227]","DISCC"]
["MTUS1","Hepatocellular carcinoma (HCC) [MIM:114550]","DISCC"]
["MYH14","Deafness autosomal dominant type 4 (DFNA4) [MIM:600652]","DISCC"]
["MYO5B","Diarrhea type 2 (DIAR2) [MIM:251850]","DISCC"]
["NPHP1","Nephronophthisis type 1 (NPHP1) [MIM:256100]","DISCC"]
["OFD1","Oral-facial-digital syndrome type 1 (OFD1) [MIM:311200]","DISCC"]
["PKD2","Polycystic kidney disease autosomal dominant type 2 (ADPKD2) [MIM:613095]","DISCC"]
["RPGRIP1","Cone-rod dystrophy type 13 (CORD13) [MIM:608194] ","DISCC"]
["RPGRIP1","Leber congenital amaurosis type 6 (LCA6) [MIM:605446]","DISCC"]
["RPGRIP1","Leber congenital amaurosis type 6 (LCA6) [MIM:605446] ","DISCC"]
["RPGRIP1L","Joubert syndrome type 7 (JBTS7) [MIM:611560]","DISCC"]
["RPGRIP1L","COACH syndrome (COACHS) [MIM:216360]","DISCC"]
["SNCAIP","Parkinson disease (PARK) [MIM:168600] ","DISCC"]
["TRIM37","Mulibrey nanism (MUL) [MIM:253250]","DISCC"]
["TRIOBP","Deafness autosomal recessive type 28 (DFNB28) [MIM:609823]","DISCC"]
["TSC1","Tuberous sclerosis type 1 (TSC1) [MIM:191100]","DISCC"]
["TSC1","Focal cortical dysplasia of Taylor balloon cell type (FCDBC) [MIM:607341]","DISCC"]
["BIN1","Centronuclear myopathy autosomal recessive (ARCNM) [MIM:255200]","DOCC"]
["NUP62","Infantile striatonigral degeneration (SNDI) [MIM:271930]","DOCC"]
["OTOF","Deafness autosomal recessive type 9 (DFNB9) [MIM:601071]","DOCC"]
["OTOF","Non-syndromic auditory neuropathy autosomal recessive (NSRAN) [MIM:601071]","DOCC"]
["SETX","Amyotrophic lateral sclerosis type 4 (ALS4) [MIM:602433]","DOCC"]
["SETX","Spinocerebellar ataxia autosomal recessive type 1 (SCAR1) [MIM:606002]","DOCC"]
["SHROOM4","Mental retardation syndromic X-linked Stocco dos Santos type (MRXSSS) [MIM:300434]","DOCC"]
["TAB2","Congenital heart disease non-syndromic type 2 (CHTD2) [MIM:612863]","DOCC"]
["TRPM1","Congenital stationary night blindness type 1C (CSNB1C) [MIM:613216]","DOCC"]
["ANKRD1","Total anomalous pulmonary venous return (TAPVR) [MIM:106700]","OCC"]
["ATL1","Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600]","OCC"]
["CD207","Birbeck granule deficiency (BIRGD) [MIM:613393]","OCC"]
["DNAH11","Primary ciliary dyskinesia type 7 (CILD7) [MIM:611884]","OCC"]
["DNAH5","Kartagener syndrome (KTGS) [MIM:244400]","OCC"]
["DNAH5","Primary ciliary dyskinesia type 3 (CILD3) [MIM:608644]","OCC"]
["DYNC2H1","Short rib-polydactyly syndrome type 3 (SRPS3) [MIM:263510]","OCC"]
["DYNC2H1","Asphyxiating thoracic dystrophy type 3 (ATD3) [MIM:613091]","OCC"]
["LAMA2","Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) [MIM:607855]","OCC"]
["LAMB3","Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]","OCC"]
["LAMB3","Epidermolysis bullosa junctional Herlitz type (H-JEB) [MIM:226700]","OCC"]
["LRRK2","Parkinson disease type 8 (PARK8) [MIM:607060]","OCC"]
["LRRK2","rs34805604 Parkinson disease type 8 (PARK8) [MIM:607060]","OCC"]
["MFN2","Charcot-Marie-Tooth disease type 2A2 (CMT2A2) [MIM:609260]","OCC"]
["MFN2","Charcot-Marie-Tooth disease type 6 (CMT6) [MIM:601152]","OCC"]
["MID1","Opitz syndrome type I (OS-I) [MIM:300000]","OCC"]
["NPHP3","Nephronophthisis type 3 (NPHP3) [MIM:604387]","OCC"]
["NPHP3","Renal-hepatic-pancreatic dysplasia (RHPD) [MIM:208540]","OCC"]
["OPA1","Optic atrophy type 1 (OPA1) [MIM:165500]","OCC"]
["OPA1","Optic atrophy 1 with deafness (OPA1D) [MIM:125250]","OCC"]
["OPA3","Optic atrophy type 3 (OPA3) [MIM:165300]","OCC"]
["PAFAH1B1","Lissencephaly type 1 (LIS1) [MIM:607432]","OCC"]
["PAFAH1B1","Subcortical band heterotopia (SBH) [MIM:607432]","OCC"]
["POF1B","Premature ovarian failure type 2B (POF2B) [MIM:300604]","OCC"]
["SNRNP200","Retinitis pigmentosa type 33 (RP33) [MIM:610359]","OCC"]
["THAP1","Dystonia type 6 (DYT6) [MIM:602629]","OCC"]
["TRIM32","Limb-girdle muscular dystrophy type 2H (LGMD2H) [MIM:254110]","OCC"]
["TRIM32","Bardet-Biedl syndrome type 11 (BBS11) [MIM:209900]","OCC"]