anophthalmia Gene Set
Genes
19 genes associated with the anophthalmia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol |
Name |
|
BMP4
|
bone morphogenetic protein 4
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CSPP1
|
centrosome and spindle pole associated protein 1
|
|
FRAS1
|
Fraser extracellular matrix complex subunit 1
|
|
FREM1
|
FRAS1 related extracellular matrix 1
|
|
FREM2
|
FRAS1 related extracellular matrix protein 2
|
|
GLI2
|
GLI family zinc finger 2
|
|
GRIP1
|
glutamate receptor interacting protein 1
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
RARB
|
retinoic acid receptor, beta
|
|
RAX
|
retina and anterior neural fold homeobox
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SHH
|
sonic hedgehog
|
|
SMOC1
|
SPARC related modular calcium binding 1
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
STRA6
|
stimulated by retinoic acid 6
|
|
TCTN2
|
tectonic family member 2
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
