Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | A novel heterozygous mutation in peroxisome proliferator-activated receptor-gamma gene in a patient with familial partial lipodystrophy. | 11788685 | 2002 |
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|
0.800 | GeneticVariation | UNIPROT | PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy. | 12453919 | 2002 |
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|
0.800 | GeneticVariation | UNIPROT | A novel heterozygous mutation in peroxisome proliferator-activated receptor-gamma gene in a patient with familial partial lipodystrophy. | 11788685 | 2002 |
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|
0.800 | GeneticVariation | UNIPROT | PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy. | 12453919 | 2002 |
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|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes. | 25157153 | 2014 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Peroxisome proliferator-activated receptor-γ protects against vascular aging. | 22461176 | 2012 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Hypertension and abnormal fat distribution but not insulin resistance in mice with P465L PPARgamma. | 15254591 | 2004 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Dominant negative mutations in human PPARgamma associated with severe insulin resistance, diabetes mellitus and hypertension. | 10622252 | 2000 |
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|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR |