ocular albinism Gene Set
Genes
23 genes associated with the ocular albinism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol |
Name |
|
AP3B1
|
adaptor-related protein complex 3, beta 1 subunit
|
|
BLOC1S3
|
biogenesis of lysosomal organelles complex-1, subunit 3
|
|
DTNBP1
|
dystrobrevin binding protein 1
|
|
EPG5
|
ectopic P-granules autophagy protein 5 homolog (C. elegans)
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GPR143
|
G protein-coupled receptor 143
|
|
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
|
|
MC1R
|
melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
|
|
MLPH
|
melanophilin
|
|
MYO5A
|
myosin VA (heavy chain 12, myoxin)
|
|
OCA2
|
oculocutaneous albinism II
|
|
PRDM16
|
PR domain containing 16
|
|
RAB27A
|
RAB27A, member RAS oncogene family
|
|
SKI
|
SKI proto-oncogene
|
|
SLC45A2
|
solute carrier family 45, member 2
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
TYR
|
tyrosinase
|
|
TYRP1
|
tyrosinase-related protein 1
|
