Condition: Amyloidosis, familial visceral


rs121912724 in APOA1;APOA1-AS gene and Amyloidosis, familial visceral PMID 3142462 1988 Variant apolipoprotein AI as a major constituent of a human hereditary amyloid.

PMID 8208902 1994 Familial nephropathic systemic amyloidosis caused by apolipoprotein AI variant Arg26.

PMID 1502149 1992 Apolipoprotein AI mutation Arg-60 causes autosomal dominant amyloidosis.

PMID 2123470 1990 A mutation in apolipoprotein A-I in the Iowa type of familial amyloidotic polyneuropathy.

rs398122820 in B2M gene and Amyloidosis, familial visceral PMID 22693999 2012 Hereditary systemic amyloidosis due to Asp76Asn variant β2-microglobulin.

rs121909612 in FGA gene and Amyloidosis, familial visceral PMID 8097946 1993 Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain.

rs121913547 in LYZ gene and Amyloidosis, familial visceral PMID 8464497 1993 Human lysozyme gene mutations cause hereditary systemic amyloidosis.