rs145330026, DMPK

N. diseases: 1
Disease: Amyloid Neuropathies, Familial ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Amyloid Neuropathies, Familial
CUI: C0206245
Disease: Amyloid Neuropathies, Familial
0.010 GeneticVariation BEFREE Transthyretin (TTR)-related familial amyloid polyneuropathy (FAP) is an autosomal dominant neurological disease, caused most frequently by a Val30Met (now classified as Val50Met) substitution in TTR. 30615214 2019