Colpocephaly Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles. (Human Phenotype Ontology, HP_0030048)
External Link https://www.disgenet.org/browser/0/1/0/C0431384
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Genes

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

Symbol Name
ANKRD11 ankyrin repeat domain 11
ARID1B AT rich interactive domain 1B (SWI1-like)
ARSI arylsulfatase family, member I
COX7B cytochrome c oxidase subunit VIIb
CSPP1 centrosome and spindle pole associated protein 1
ERMARD ER membrane-associated RNA degradation
FANCI Fanconi anemia, complementation group I
HCCS holocytochrome c synthase
KAT6B K(lysine) acetyltransferase 6B
KIAA0586 KIAA0586
KIF7 kinesin family member 7
MPDZ multiple PDZ domain protein
NCAPG2 non-SMC condensin II complex, subunit G2
NDUFB11 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa
PEX10 peroxisomal biogenesis factor 10
TICRR TOPBP1-interacting checkpoint and replication regulator
TUBA8 tubulin, alpha 8