Albinism Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina). (Human Phenotype Ontology, HP_0001022)
External Link https://www.disgenet.org/browser/0/1/0/C0001916
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Genes

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

Symbol Name
AGFG1 ArfGAP with FG repeats 1
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
C10ORF11 chromosome 10 open reading frame 11
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
DCT dopachrome tautomerase
DTNBP1 dystrobrevin binding protein 1
EDNRB endothelin receptor type B
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
FGL1 fibrinogen-like 1
FRMD7 FERM domain containing 7
FZD4 frizzled class receptor 4
GPR143 G protein-coupled receptor 143
GPR151 G protein-coupled receptor 151
GPRC6A G protein-coupled receptor, class C, group 6, member A
HPS1 Hermansky-Pudlak syndrome 1
HPS3 Hermansky-Pudlak syndrome 3
HPS4 Hermansky-Pudlak syndrome 4
HPS5 Hermansky-Pudlak syndrome 5
HPS6 Hermansky-Pudlak syndrome 6
IDS iduronate 2-sulfatase
INS insulin
LGR6 leucine-rich repeat containing G protein-coupled receptor 6
LPAR3 lysophosphatidic acid receptor 3
LYST lysosomal trafficking regulator
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MITF microphthalmia-associated transcription factor
MRGPRX1 MAS-related GPR, member X1
MRGPRX3 MAS-related GPR, member X3
MRGPRX4 MAS-related GPR, member X4
MYEF2 myelin expression factor 2
OCA2 oculocutaneous albinism II
OXER1 oxoeicosanoid (OXE) receptor 1
PAX6 paired box 6
PLXNA2 plexin A2
RAB27A RAB27A, member RAS oncogene family
RTEL1 regulator of telomere elongation helicase 1
SLC24A4 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4
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
TBL1Y transducin (beta)-like 1, Y-linked
TCOF1 Treacher Collins-Franceschetti syndrome 1
TFF1 trefoil factor 1
TYR tyrosinase
TYRP1 tyrosinase-related protein 1