Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Amyloidosis, Primary Cutaneous
CUI: C0268397
Disease: Amyloidosis, Primary Cutaneous
0.020 GeneticVariation BEFREE Among the MEN 2A individuals there was one case with de novo C634R mutation and one case, C634Y, with cutaneous lichen amyloidosis which predated by 24 years the diagnosis of MEN 2A. 9820617 1998
Amyloidosis, Primary Cutaneous
CUI: C0268397
Disease: Amyloidosis, Primary Cutaneous
0.020 GeneticVariation BEFREE Identification of the Cys634-->Tyr mutation of the RET proto-oncogene in a pedigree with multiple endocrine neoplasia type 2A and localized cutaneous lichen amyloidosis. 7914213 1994