Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587776968
rs587776968
Entrez Id: 63924
Gene Symbol: CIDEC
CIDEC
CUI: C3808940
Disease:
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5
A 0.700 CausalMutation CLINVAR
dbSNP: rs1053239
rs1053239
Entrez Id: 63924
Gene Symbol: CIDEC
CIDEC
CUI: C0524620
Disease:
Metabolic Syndrome X
0.010 GeneticVariation BEFREE The association of single nucleotide polymorphisms rs1053239 and rs2479 of cell death-inducing DFFA-like effector c with the risk of metabolic syndrome and its components, and with the efficacy and cost-effectiveness of antihypertensive drugs was investigated. 28415694 2017
dbSNP: rs2479
rs2479
Entrez Id: 63924
Gene Symbol: CIDEC
CIDEC
CUI: C0524620
Disease:
Metabolic Syndrome X
0.010 GeneticVariation BEFREE The association of single nucleotide polymorphisms rs1053239 and rs2479 of cell death-inducing DFFA-like effector c with the risk of metabolic syndrome and its components, and with the efficacy and cost-effectiveness of antihypertensive drugs was investigated. 28415694 2017
dbSNP: rs587776968
rs587776968
Entrez Id: 63924
Gene Symbol: CIDEC
CIDEC
CUI: C0854110
Disease:
Insulin-resistant diabetes mellitus
0.010 GeneticVariation BEFREE In this paper we describe a female patient with partial lipodystrophy (affecting limb, femorogluteal and subcutaneous abdominal fat), white adipocytes with multiloculated lipid droplets and insulin-resistant diabetes, who was found to be homozygous for a premature truncation mutation in the lipid droplet protein cell death-inducing Dffa-like effector C (CIDEC) (E186X). 20049731 2009