Coloboma Of The Retina Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C3540764
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Genes

58 genes associated with the disease Coloboma Of The Retina in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACTB actin, beta
AHI1 Abelson helper integration site 1
AKT1 v-akt murine thymoma viral oncogene homolog 1
B3GLCT beta 3-glucosyltransferase
BCOR BCL6 corepressor
BMP4 bone morphogenetic protein 4
C12ORF57 chromosome 12 open reading frame 57
C2CD3 C2 calcium-dependent domain containing 3
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CC2D2A coiled-coil and C2 domain containing 2A
CCDC22 coiled-coil domain containing 22
CEP120 centrosomal protein 120kDa
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CHD7 chromodomain helicase DNA binding protein 7
CHN1 chimerin 1
CLDN19 claudin 19
COL25A1 collagen, type XXV, alpha 1
DACT1 dishevelled-binding antagonist of beta-catenin 1
FGF3 fibroblast growth factor 3
GDF3 growth differentiation factor 3
HHAT hedgehog acyltransferase
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
KDM2B lysine (K)-specific demethylase 2B
KIAA0586 KIAA0586
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MKS1 Meckel syndrome, type 1
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
PAX2 paired box 2
PAX6 paired box 6
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PORCN porcupine homolog (Drosophila)
PTEN phosphatase and tensin homolog
PUF60 poly-U binding splicing factor 60KDa
RAB18 RAB18, member RAS oncogene family
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RARA retinoic acid receptor, alpha
RBP4 retinol binding protein 4, plasma
RPGRIP1L RPGRIP1-like
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SHH sonic hedgehog
SOX2 SRY (sex determining region Y)-box 2
SPINT2 serine peptidase inhibitor, Kunitz type, 2
TBC1D20 TBC1 domain family, member 20
TBX22 T-box 22
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TMEM138 transmembrane protein 138
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM67 transmembrane protein 67
WASHC5 WASH complex subunit 5
YAP1 Yes-associated protein 1
ZEB2 zinc finger E-box binding homeobox 2
ZNF423 zinc finger protein 423