retinal coloboma Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A notch or cleft of the retina. (Human Phenotype Ontology, HP_0000480)
External Link
Similar Terms
Downloads & Tools


52 genes associated with the retinal coloboma phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACTB actin, beta
ACTG1 actin gamma 1
AHI1 Abelson helper integration site 1
AKT1 v-akt murine thymoma viral oncogene homolog 1
B3GALTL beta 1,3-galactosyltransferase-like
BCOR BCL6 corepressor
BMP4 bone morphogenetic protein 4
C12ORF57 chromosome 12 open reading frame 57
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CC2D2A coiled-coil and C2 domain containing 2A
CCDC22 coiled-coil domain containing 22
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CHD7 chromodomain helicase DNA binding protein 7
CHN1 chimerin 1
CLDN19 claudin 19
CRYBA4 crystallin, beta A4
FGF3 fibroblast growth factor 3
HHAT hedgehog acyltransferase
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
KDM6A lysine (K)-specific demethylase 6A
KIAA0196 KIAA0196
KMT2D lysine (K)-specific methyltransferase 2D
LRP2 low density lipoprotein receptor-related protein 2
MKS1 Meckel syndrome, type 1
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NMNAT1 nicotinamide nucleotide adenylyltransferase 1
PAX2 paired box 2
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PORCN porcupine homolog (Drosophila)
PTEN phosphatase and tensin homolog
RAB18 RAB18, member RAS oncogene family
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RS1 retinoschisin 1
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SIX6 SIX homeobox 6
TBC1D20 TBC1 domain family, member 20
TBX22 T-box 22
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TMEM114 transmembrane protein 114
TMEM138 transmembrane protein 138
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM67 transmembrane protein 67
VSX2 visual system homeobox 2
YAP1 Yes-associated protein 1
ZNF423 zinc finger protein 423