blue irides Gene Set
Genes
18 genes associated with the blue irides phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol |
Name |
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
EDN3
|
endothelin 3
|
|
EDNRB
|
endothelin receptor type B
|
|
HERC2
|
HECT and RLD domain containing E3 ubiquitin protein ligase 2
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MITF
|
microphthalmia-associated transcription factor
|
|
OCA2
|
oculocutaneous albinism II
|
|
PAH
|
phenylalanine hydroxylase
|
|
PAX3
|
paired box 3
|
|
PDE4D
|
phosphodiesterase 4D, cAMP-specific
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
SLC45A2
|
solute carrier family 45, member 2
|
|
SOS1
|
son of sevenless homolog 1 (Drosophila)
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
TP63
|
tumor protein p63
|
|
TYR
|
tyrosinase
|
|
UBE3A
|
ubiquitin protein ligase E3A
|
|
UROC1
|
urocanate hydratase 1
|
