Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs57920071
rs57920071
LMNA
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		0.830 GeneticVariation BEFREE FPLD2 LMNA mutation R482W dysregulates iPSC-derived adipocyte function and lipid metabolism. 29108996

2018
dbSNP: rs57920071
rs57920071
LMNA
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		0.830 GeneticVariation BEFREE In contrast, both overexpression of LMNA R482W in primary human preadipocytes and endogenous expression of A-type lamins R482W in FPLD2 patient fibroblasts, reduce A-type lamins-SREBP1 in situ interactions and upregulate a large number of SREBP1 target genes. 25524705

2015
dbSNP: rs57920071
rs57920071
LMNA
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		0.830 GeneticVariation BEFREE We propose a model where the FPLD2 lamin A p.R482W mutation elicits, through up-regulation of FXR1P, a remodeling of an adipogenic differentiation program into a myogenic program. 24108105

2014
dbSNP: rs57920071
rs57920071
LMNA
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		0.830 GeneticVariation UNIPROT

dbSNP: rs57920071
rs57920071
LMNA
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		T 0.830 CausalMutation CLINVAR