Coloboma Of Optic Disc Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0155299
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Genes

30 genes associated with the disease Coloboma Of Optic Disc in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
ACTB actin, beta
ACTG1 actin gamma 1
BCOR BCL6 corepressor
C2CD3 C2 calcium-dependent domain containing 3
CC2D2A coiled-coil and C2 domain containing 2A
CD38 CD38 molecule
DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
ELP4 elongator acetyltransferase complex subunit 4
FOXE3 forkhead box E3
FZD5 frizzled class receptor 5
IGBP1 immunoglobulin (CD79A) binding protein 1
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
KIF26B kinesin family member 26B
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NIPBL Nipped-B homolog (Drosophila)
ODC1 ornithine decarboxylase 1
PAX2 paired box 2
PAX6 paired box 6
PMM2 phosphomannomutase 2
RPGRIP1L RPGRIP1-like
SALL2 spalt-like transcription factor 2
SALL4 spalt-like transcription factor 4
SH2B1 SH2B adaptor protein 1
SLC25A21 solute carrier family 25 (mitochondrial oxoadipate carrier), member 21
SMO smoothened, frizzled class receptor
SPINT2 serine peptidase inhibitor, Kunitz type, 2
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TMEM216 transmembrane protein 216
TMEM67 transmembrane protein 67