Bietti Crystalline Corneoretinal Dystrophy Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_0050664)
External Link https://www.disgenet.org/browser/0/1/0/C1859486
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Genes

12 genes associated with the disease Bietti Crystalline Corneoretinal Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
CTNNA1 catenin (cadherin-associated protein), alpha 1, 102kDa
CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6
CYP4V2 cytochrome P450, family 4, subfamily V, polypeptide 2
ERBB2 erb-b2 receptor tyrosine kinase 2
EYS eyes shut homolog (Drosophila)
FADS3 fatty acid desaturase 3
GCG glucagon
GOT2 glutamic-oxaloacetic transaminase 2, mitochondrial
KLKB1 kallikrein B, plasma (Fletcher factor) 1
SCD stearoyl-CoA desaturase (delta-9-desaturase)
TIMP3 TIMP metallopeptidase inhibitor 3