APOE, apolipoprotein E, 348

N. diseases: 1049; N. variants: 62
Disease: LIPOPROTEIN GLOMERULOPATHY ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918397
rs121918397
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C2673196
Disease:
LIPOPROTEIN GLOMERULOPATHY 		0.830 GeneticVariation UNIPROT APOE Kyoto mutation in European Americans with lipoprotein glomerulopathy. 18077821 2007
dbSNP: rs121918397
rs121918397
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C2673196
Disease:
LIPOPROTEIN GLOMERULOPATHY 		0.830 GeneticVariation BEFREE These unique characteristics of apoE2 Sendai (Arg(145) Pro) may relate to the development of lipoprotein glomerulopathy. 11181800 2001
dbSNP: rs121918397
rs121918397
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C2673196
Disease:
LIPOPROTEIN GLOMERULOPATHY 		0.830 GeneticVariation UNIPROT Recent studies identified several apoE mutations in patients with LPG, including apoE2(R145P) Sendai (apoE-Sendai). 10903326 2000
dbSNP: rs121918397
rs121918397
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C2673196
Disease:
LIPOPROTEIN GLOMERULOPATHY 		0.830 GeneticVariation UNIPROT Lipoprotein glomerulopathy (LPG) is characterized by intraglomerular lipoprotein thrombosis and high plasma concentrations of apolipoprotein (apo) E. An apo E variant, apo E2 (Arg145Pro) Sendai, was recently identified in three patients with LPG. 10432380 1999
dbSNP: rs121918397
rs121918397
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C2673196
Disease:
LIPOPROTEIN GLOMERULOPATHY 		0.830 GeneticVariation BEFREE Lipoprotein glomerulopathy (LPG) is characterized by intraglomerular lipoprotein thrombosis and high plasma concentrations of apolipoprotein (apo) E. An apo E variant, apo E2 (Arg145Pro) Sendai, was recently identified in three patients with LPG. 10432380 1999
dbSNP: rs121918397
rs121918397
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C2673196
Disease:
LIPOPROTEIN GLOMERULOPATHY 		0.830 GeneticVariation UNIPROT Apolipoprotein E Sendai (arginine 145-->proline): a new variant associated with lipoprotein glomerulopathy. 9176854 1997
dbSNP: rs121918397
rs121918397
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C2673196
Disease:
LIPOPROTEIN GLOMERULOPATHY 		0.830 GeneticVariation BEFREE Apolipoprotein E Sendai (arginine 145-->proline): a new variant associated with lipoprotein glomerulopathy. 9176854 1997
dbSNP: rs121918397
rs121918397
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C2673196
Disease:
LIPOPROTEIN GLOMERULOPATHY 		C 0.830 CausalMutation CLINVAR
dbSNP: rs121918399
rs121918399
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C2673196
Disease:
LIPOPROTEIN GLOMERULOPATHY 		0.820 GeneticVariation BEFREE Three types of APOE mutation have been detected in those patients: APOE Maebashi (142Arg-144Leu-0) and APOE Kyoto (Arg25-Cys) were initially reported, and APOE Guangzhou (Arg150-Pro) is a novel mutation in Chinese patients with LPG. 24165683 2014
dbSNP: rs121918399
rs121918399
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C2673196
Disease:
LIPOPROTEIN GLOMERULOPATHY 		0.820 GeneticVariation UNIPROT APOE Kyoto mutation in European Americans with lipoprotein glomerulopathy. 18077821 2007
dbSNP: rs121918399
rs121918399
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C2673196
Disease:
LIPOPROTEIN GLOMERULOPATHY 		0.820 GeneticVariation UNIPROT Virus-mediated transduction of apolipoprotein E (ApoE)-sendai develops lipoprotein glomerulopathy in ApoE-deficient mice. 10903326 2000
dbSNP: rs121918399
rs121918399
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C2673196
Disease:
LIPOPROTEIN GLOMERULOPATHY 		0.820 GeneticVariation UNIPROT Apo E2 (Arg25Cys) Kyoto is a novel mutation of apo E that is etiologically related to LPG. 10432380 1999
dbSNP: rs121918399
rs121918399
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C2673196
Disease:
LIPOPROTEIN GLOMERULOPATHY 		0.820 GeneticVariation BEFREE Apo E2 (Arg25Cys) Kyoto is a novel mutation of apo E that is etiologically related to LPG. 10432380 1999
dbSNP: rs121918399
rs121918399
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C2673196
Disease:
LIPOPROTEIN GLOMERULOPATHY 		0.820 GeneticVariation UNIPROT Apolipoprotein E Sendai (arginine 145-->proline): a new variant associated with lipoprotein glomerulopathy. 9176854 1997
dbSNP: rs121918399
rs121918399
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C2673196
Disease:
LIPOPROTEIN GLOMERULOPATHY 		T 0.820 CausalMutation CLINVAR
dbSNP: rs11542041
rs11542041
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C2673196
Disease:
LIPOPROTEIN GLOMERULOPATHY 		0.010 GeneticVariation BEFREE Lipoprotein glomerulopathy-like disease in a patient with type III hyperlipoproteinemia due to apolipoprotein E2 (Arg158 Cys)/3 heterozygosity. 17593519 2007