APC, APC regulator of WNT signaling pathway, 324

N. diseases: 703; N. variants: 681
Disease: Congenital hypertrophy of retinal pigment epithelium ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs62619935
rs62619935
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0339555
Disease:
Congenital hypertrophy of retinal pigment epithelium 		0.010 GeneticVariation BEFREE A mutation in exon 6, Arg216Stop, was identified in one patient with FAP and CHRPE. 10755094 2000