GGCX, gamma-glutamyl carboxylase, 2677

N. diseases: 56; N. variants: 16
Disease: Pseudoxanthoma Elasticum ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909683
rs121909683
Entrez Id: 2677
Gene Symbol: GGCX
GGCX
CUI: C0033847
Disease:
Pseudoxanthoma Elasticum 		0.010 GeneticVariation BEFREE The proband's mother and aunt, also manifesting with PXE-like skin changes, were heterozygous carriers of a missense mutation (p.V255M) in GGCX and a null mutation (p.R1141X) in the ABCC6 gene, suggesting digenic nature of their skin findings. 18800149 2009