Albinoidism, Oculocutaneous, Autosomal Dominant Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C1876214
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Genes

53 genes associated with the disease Albinoidism, Oculocutaneous, Autosomal Dominant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AP3B1 adaptor-related protein complex 3, beta 1 subunit
BACE1 beta-site APP-cleaving enzyme 1
CABIN1 calcineurin binding protein 1
CLCN7 chloride channel, voltage-sensitive 7
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CXCL11 chemokine (C-X-C motif) ligand 11
DCT dopachrome tautomerase
DKK1 dickkopf WNT signaling pathway inhibitor 1
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
FGL1 fibrinogen-like 1
FIG4 FIG4 phosphoinositide 5-phosphatase
FSCN1 fascin actin-bundling protein 1
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3
GLI3 GLI family zinc finger 3
GPR143 G protein-coupled receptor 143
HDAC5 histone deacetylase 5
HPS1 Hermansky-Pudlak syndrome 1
HPS3 Hermansky-Pudlak syndrome 3
HPS5 Hermansky-Pudlak syndrome 5
LAMC2 laminin, gamma 2
LTBR lymphotoxin beta receptor (TNFR superfamily, member 3)
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MITF microphthalmia-associated transcription factor
MLANA melan-A
MLPH melanophilin
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MYO5A myosin VA (heavy chain 12, myoxin)
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
OCA2 oculocutaneous albinism II
PIKFYVE phosphoinositide kinase, FYVE finger containing
PLXNA2 plexin A2
POFUT1 protein O-fucosyltransferase 1
POMC proopiomelanocortin
RAB27A RAB27A, member RAS oncogene family
RAB38 RAB38, member RAS oncogene family
RANBP2 RAN binding protein 2
RHOA ras homolog family member A
RPE ribulose-5-phosphate-3-epimerase
RTL1 retrotransposon-like 1
SASH1 SAM and SH3 domain containing 1
SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member 5
SLC45A2 solute carrier family 45, member 2
SOX10 SRY (sex determining region Y)-box 10
TCOF1 Treacher Collins-Franceschetti syndrome 1
TNF tumor necrosis factor
TNFSF14 tumor necrosis factor (ligand) superfamily, member 14
TP53 tumor protein p53
TYR tyrosinase
TYRP1 tyrosinase-related protein 1
UBE3A ubiquitin protein ligase E3A
UROD uroporphyrinogen decarboxylase
VAC14 Vac14 homolog (S. cerevisiae)
ZEB2 zinc finger E-box binding homeobox 2