Albinism, Oculocutaneous Gene Set
Genes
16 genes associated with the Albinism, Oculocutaneous phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.
| Symbol |
Name |
|
C2
|
complement component 2
|
|
CFB
|
complement factor B
|
|
GPR143
|
G protein-coupled receptor 143
|
|
HPS1
|
Hermansky-Pudlak syndrome 1
|
|
HPS3
|
Hermansky-Pudlak syndrome 3
|
|
HPS4
|
Hermansky-Pudlak syndrome 4
|
|
MC1R
|
melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
|
|
NELFE
|
negative elongation factor complex member E
|
|
OCA2
|
oculocutaneous albinism II
|
|
PMEL
|
premelanosome protein
|
|
SKIV2L
|
superkiller viralicidic activity 2-like (S. cerevisiae)
|
|
SLC24A5
|
solute carrier family 24 (sodium/potassium/calcium exchanger), member 5
|
|
SLC45A2
|
solute carrier family 45, member 2
|
|
STK19
|
serine/threonine kinase 19
|
|
TYR
|
tyrosinase
|
|
TYRP1
|
tyrosinase-related protein 1
|
