Goldenhar Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch. (Human Disease Ontology, DOID_2907)
External Link https://www.disgenet.org/browser/0/1/0/C0265240
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Genes

20 genes associated with the disease Goldenhar Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AGAP1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1
ARID3B AT rich interactive domain 3B (BRIGHT-like)
CHD7 chromodomain helicase DNA binding protein 7
COX8A cytochrome c oxidase subunit VIIIA (ubiquitous)
EFTUD2 elongation factor Tu GTP binding domain containing 2
FGF8 fibroblast growth factor 8 (androgen-induced)
FRMD4A FERM domain containing 4A
MYT1 myelin transcription factor 1
NID2 nidogen 2 (osteonidogen)
OTX2 orthodenticle homeobox 2
PARD3B par-3 family cell polarity regulator beta
RAB18 RAB18, member RAS oncogene family
SALL1 spalt-like transcription factor 1
SHROOM3 shroom family member 3
SIX1 SIX homeobox 1
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
TBC1D20 TBC1 domain family, member 20
TSC1 tuberous sclerosis 1
WNT5B wingless-type MMTV integration site family, member 5B
ZIC3 Zic family member 3