APOA1, apolipoprotein A1, 335

N. diseases: 416; N. variants: 32
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1719315
Disease: Hereditary cardiac amyloidosis
Hereditary cardiac amyloidosis
0.010 GeneticVariation disease BEFREE The new apolipoprotein A-I variant leu(174) --> Ser causes hereditary cardiac amyloidosis, and the amyloid fibrils are constituted by the 93-residue N-terminal polypeptide. 10487826 1999