APOA1, apolipoprotein A1, 335

N. diseases: 416; N. variants: 32
Disease: Amyloidosis, familial visceral ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		0.700 Biomarker disease GENOMICS_ENGLAND A novel APOA1 mutation in a patient with renal amyloidosis: unveiling amyloid by next-generation sequencing. 31482740 2019
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		0.700 Biomarker disease GENOMICS_ENGLAND A case report of hereditary apolipoprotein A-I amyloidosis associated with a novel APOA1 mutation and variable phenotype. 27240838 2016
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		0.700 Biomarker disease GENOMICS_ENGLAND Organ transplantation in hereditary apolipoprotein AI amyloidosis. 16925563 2006
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		0.700 GeneticVariation disease UNIPROT Familial nephropathic systemic amyloidosis caused by apolipoprotein AI variant Arg26. 8208902 1994
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		0.700 GeneticVariation disease UNIPROT Apolipoprotein AI mutation Arg-60 causes autosomal dominant amyloidosis. 1502149 1992
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		0.700 GeneticVariation disease UNIPROT A mutation in apolipoprotein A-I in the Iowa type of familial amyloidotic polyneuropathy. 2123470 1990
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		0.700 GeneticVariation disease UNIPROT Variant apolipoprotein AI as a major constituent of a human hereditary amyloid. 3142462 1988
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		0.700 CausalMutation disease CLINVAR
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		0.700 Biomarker disease CTD_human
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		0.700 Biomarker disease GENOMICS_ENGLAND