Albinism, Ocular Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0078917
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Genes

36 genes associated with the disease Albinism, Ocular in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
AP3B1 adaptor-related protein complex 3, beta 1 subunit
AP3D1 adaptor-related protein complex 3, delta 1 subunit
BLOC1S3 biogenesis of lysosomal organelles complex-1, subunit 3
BLOC1S6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
DTNBP1 dystrobrevin binding protein 1
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
FGL1 fibrinogen-like 1
FNDC3A fibronectin type III domain containing 3A
FRMD7 FERM domain containing 7
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GNAI3 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
GPR143 G protein-coupled receptor 143
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2
HPS1 Hermansky-Pudlak syndrome 1
HPS4 Hermansky-Pudlak syndrome 4
HPS5 Hermansky-Pudlak syndrome 5
HPS6 Hermansky-Pudlak syndrome 6
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
LYST lysosomal trafficking regulator
MITF microphthalmia-associated transcription factor
OCA2 oculocutaneous albinism II
PAX6 paired box 6
PLXNA2 plexin A2
PMPCA peptidase (mitochondrial processing) alpha
PRDM16 PR domain containing 16
RERE arginine-glutamic acid dipeptide (RE) repeats
SHROOM2 shroom family member 2
SKI SKI proto-oncogene
SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member 5
SLC38A8 solute carrier family 38, member 8
SLC45A2 solute carrier family 45, member 2
STS steroid sulfatase (microsomal), isozyme S
TBL1X transducin (beta)-like 1X-linked
TYR tyrosinase
TYRP1 tyrosinase-related protein 1