Human | BLOC1S3 | 388552 | biogenesis of lysosomal organelles complex-1, subunit 3 | Lifelong reduced visual acuity, legal blindness to low vision |
Human | VPS13B | 157680 | vacuolar protein sorting 13 homolog B (yeast) | |
Human | HPS4 | 89781 | Hermansky-Pudlak syndrome 4 | Lifelong reduced visual acuity, legal blindness to low vision |
Human | HPS3 | 84343 | Hermansky-Pudlak syndrome 3 | Lifelong reduced visual acuity, legal blindness to low vision |
Human | DTNBP1 | 84062 | dystrobrevin binding protein 1 | Lifelong reduced visual acuity, legal blindness to low vision |
Human | OPA3 | 80207 | optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) | |
Human | CEP290 | 80184 | centrosomal protein 290kDa | |
Human | HPS6 | 79803 | Hermansky-Pudlak syndrome 6 | Lifelong reduced visual acuity, legal blindness to low vision |
Human | MMACHC | 25974 | methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria | |
Human | ZFYVE26 | 23503 | zinc finger, FYVE domain containing 26 | |
Human | TREX1 | 11277 | three prime repair exonuclease 1 | |
Human | HPS5 | 11234 | Hermansky-Pudlak syndrome 5 | Lifelong reduced visual acuity, legal blindness to low vision |
Human | AP3B1 | 8546 | adaptor-related protein complex 3, beta 1 subunit | |
Human | FZD4 | 8322 | frizzled family receptor 4 | |
Human | TYR | 7299 | tyrosinase | |
Human | TGFBI | 7045 | transforming growth factor, beta-induced, 68kDa | |
Human | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | |
Human | SH3BP2 | 6452 | SH3-domain binding protein 2 | |
Human | RPGR | 6103 | retinitis pigmentosa GTPase regulator | |
Human | RP2 | 6102 | retinitis pigmentosa 2 (X-linked recessive) | Decreased visual acuity, in some female carriers |
Human | PITX3 | 5309 | paired-like homeodomain 3 | Normal/reduced visual acuity |
Human | OPA1 | 4976 | optic atrophy 1 (autosomal dominant) | |
Human | OCRL | 4952 | oculocerebrorenal syndrome of Lowe | |
Human | OCA2 | 4948 | oculocutaneous albinism II | |
Human | MITF | 4286 | microphthalmia-associated transcription factor | |