hypopigmentation of the fundus Gene Set
Genes
19 genes associated with the hypopigmentation of the fundus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol |
Name |
|
BLOC1S6
|
biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
EDNRB
|
endothelin receptor type B
|
|
EPG5
|
ectopic P-granules autophagy protein 5 homolog (C. elegans)
|
|
FLNB
|
filamin B, beta
|
|
KIF11
|
kinesin family member 11
|
|
KIF7
|
kinesin family member 7
|
|
MFRP
|
membrane frizzled-related protein
|
|
OCA2
|
oculocutaneous albinism II
|
|
RGR
|
retinal G protein coupled receptor
|
|
SLC25A15
|
solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
|
|
SLC45A2
|
solute carrier family 45, member 2
|
|
SNRNP200
|
small nuclear ribonucleoprotein 200kDa (U5)
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
TOPORS
|
topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
|
|
TRIM37
|
tripartite motif containing 37
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSC2
|
tuberous sclerosis 2
|
|
TYR
|
tyrosinase
|
