GCDH, glutaryl-CoA dehydrogenase, 2639

N. diseases: 72; N. variants: 121
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1562113
Disease: Fleck corneal dystrophy
Fleck corneal dystrophy
0.010 Biomarker disease BEFREE Our results suggest that a subset of FCD type IIIa (namely abnormal cortical layering associated with MTS and GCD type 2) exists in which loss of Reelin appears to be the common pathogenetic basis. 22203331 2012