Human | BLOC1S3 | 388552 | biogenesis of lysosomal organelles complex-1, subunit 3 | |
Human | NDUFS7 | 374291 | NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) | |
Human | CLDN19 | 149461 | claudin 19 | |
Human | TTBK2 | 146057 | tau tubulin kinase 2 | |
Human | C8orf38 | 137682 | | |
Human | NDUFAF2 | 91942 | NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 | |
Human | FRMD7 | 90167 | FERM domain containing 7 | This is first report that five kinds of FRMD7 gene mutation types occurred in Chinese families with Infantile nystagmus (IN), which further support that FRMD7 gene mutations are the underlying pathogenesis of the molecular mechanism for IN We demonstrate that phenotypic variation of nystagmus occurs in families with FRMD7 mutations The c.425T>G change is predicted to result in the missense substitution of the leucine at codon 142 for an arginine (p.L142R), and supports a causative role for FRMD7 mutations in the pathogenesis of X-linked idiopathic infantile nystagmus |
Human | HPS4 | 89781 | Hermansky-Pudlak syndrome 4 | |
Human | ATCAY | 85300 | ataxia, cerebellar, Cayman type | |
Human | HPS3 | 84343 | Hermansky-Pudlak syndrome 3 | |
Human | PHF6 | 84295 | PHD finger protein 6 | |
Human | DTNBP1 | 84062 | dystrobrevin binding protein 1 | |
Human | CEP290 | 80184 | centrosomal protein 290kDa | |
Human | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | |
Human | HPS6 | 79803 | Hermansky-Pudlak syndrome 6 | |
Human | FKRP | 79147 | fukutin related protein | |
Human | C20orf7 | 79133 | | |
Human | PORCN | 64840 | porcupine homolog (Drosophila) | |
Human | SIL1 | 64374 | SIL1 nucleotide exchange factor | |
Human | NSD1 | 64324 | nuclear receptor binding SET domain protein 1 | |
Human | GJC2 | 57165 | gap junction protein, gamma 2, 47kDa | Patients from one family carrying a homozygous frameshift mutation in GJA12 presenting with nystagmus and brain demyelinating disease |
Human | PDSS2 | 57107 | prenyl (decaprenyl) diphosphate synthase, subunit 2 | |
Human | ADCK3 | 56997 | aarF domain containing kinase 3 | |
Human | C10orf2 | 56652 | chromosome 10 open reading frame 2 | |
Human | PEX26 | 55670 | peroxisomal biogenesis factor 26 | |