Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800206
rs1800206
Entrez Id: 5465
Gene Symbol: PPARA
PPARA
CUI: C1868414
Disease:
HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO
G 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs1232898090
rs1232898090
Entrez Id: 5465
Gene Symbol: PPARA
PPARA
CUI: C0028754
Disease:
Obesity
0.100 GeneticVariation BEFREE Further studies of the Pro12Ala variant will determine its relevance to obesity, insulin resistance, and type 2 diabetes. 9425261 1997
dbSNP: rs1232898090
rs1232898090
Entrez Id: 5465
Gene Symbol: PPARA
PPARA
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.100 GeneticVariation BEFREE Further studies of the Pro12Ala variant will determine its relevance to obesity, insulin resistance, and type 2 diabetes. 9425261 1997
dbSNP: rs1232898090
rs1232898090
Entrez Id: 5465
Gene Symbol: PPARA
PPARA
CUI: C0028754
Disease:
Obesity
0.100 GeneticVariation BEFREE The objectives of the present investigation were to examine: 1) whether a Pro115Gln variant in the peroxisome proliferator-activated receptor-gamma2 (PPAR-gamma2) is associated with juvenile-onset obesity among Danish Caucasianmen and 2) whether the relation of a Pro12Ala polymorphism in PPAR-gamma2 with BMI and long-term weight regulation differ between lean and obese subjects within the same cohort. 10440134 1999
dbSNP: rs1232898090
rs1232898090
Entrez Id: 5465
Gene Symbol: PPARA
PPARA
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.100 GeneticVariation BEFREE These results suggest that the PPARgamma is a thrifty gene and that the Pro12Ala PPARgamma2 polymorphism protects against type 2 diabetes in the Japanese. 10777704 2000
dbSNP: rs1800206
rs1800206
Entrez Id: 5465
Gene Symbol: PPARA
PPARA
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.070 GeneticVariation BEFREE We subsequently screened a sample of 121 patients newly diagnosed with type 2 diabetes and their age and sex-matched nondiabetic controls, recruited from the Saguenay-Lac-St-Jean region of Northeastern Quebec, for the presence of the L162V mutation by a PCR-RFLP based method. 10828087 2000
dbSNP: rs1232898090
rs1232898090
Entrez Id: 5465
Gene Symbol: PPARA
PPARA
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.100 GeneticVariation BEFREE Furthermore, a potential interaction between the Pro12Ala polymorphism of PPAR-gamma2 and the PGC-1 Gly482Ser variant on risk of Type II diabetes was investigated. 11793024 2001
dbSNP: rs1232898090
rs1232898090
Entrez Id: 5465
Gene Symbol: PPARA
PPARA
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.100 GeneticVariation BEFREE These findings support a role for the PPAR-gamma2 Pro12Ala variant in the etiology of type 2 diabetes and the insulin resistance syndrome. 11289057 2001
dbSNP: rs1232898090
rs1232898090
Entrez Id: 5465
Gene Symbol: PPARA
PPARA
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.100 GeneticVariation BEFREE The incidence of Type II diabetes and IGT among the Swedish subjects at the age of 70 was similar in the three genotype-groups of the Pro12Ala variant and the Ala-allele was not related to a lower prevalence of Type II diabetes in Danish Caucasians. 11596673 2001
dbSNP: rs1232898090
rs1232898090
Entrez Id: 5465
Gene Symbol: PPARA
PPARA
CUI: C0011847
Disease:
Diabetes
0.070 GeneticVariation BEFREE We also compared diabetes-related traits between subjects with and without the Pro12Ala variant within subgroups. 11289057 2001
dbSNP: rs1232898090
rs1232898090
Entrez Id: 5465
Gene Symbol: PPARA
PPARA
CUI: C0011849
Disease:
Diabetes Mellitus
0.070 GeneticVariation BEFREE We also compared diabetes-related traits between subjects with and without the Pro12Ala variant within subgroups. 11289057 2001
dbSNP: rs1800206
rs1800206
Entrez Id: 5465
Gene Symbol: PPARA
PPARA
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.070 GeneticVariation BEFREE A polymorphism, L162V, in the peroxisome proliferator-activated receptor alpha (PPARalpha) gene is associated with lower body mass index in patients with non-insulin-dependent diabetes mellitus. 11409711 2001
dbSNP: rs1800206
rs1800206
Entrez Id: 5465
Gene Symbol: PPARA
PPARA
CUI: C0028754
Disease:
Obesity
0.060 GeneticVariation BEFREE This study examined the effect a polymorphism (L162V) in the gene for peroxisome proliferator activated receptor (PPAR) alpha in the development of non-insulin-dependent diabetes mellitus (type 2 DM), obesity and hyperlipidaemia. 11409711 2001
dbSNP: rs1232898090
rs1232898090
Entrez Id: 5465
Gene Symbol: PPARA
PPARA
CUI: C0524620
Disease:
Metabolic Syndrome X
0.040 GeneticVariation BEFREE These findings support a role for the PPAR-gamma2 Pro12Ala variant in the etiology of type 2 diabetes and the insulin resistance syndrome. 11289057 2001
dbSNP: rs1800206
rs1800206
Entrez Id: 5465
Gene Symbol: PPARA
PPARA
CUI: C0020473
Disease:
Hyperlipidemia
0.020 GeneticVariation BEFREE This study examined the effect a polymorphism (L162V) in the gene for peroxisome proliferator activated receptor (PPAR) alpha in the development of non-insulin-dependent diabetes mellitus (type 2 DM), obesity and hyperlipidaemia. 11409711 2001
dbSNP: rs1193512118
rs1193512118
Entrez Id: 5465
Gene Symbol: PPARA
PPARA
CUI: C0342276
Disease:
Maturity onset diabetes mellitus in young
0.010 GeneticVariation BEFREE However, two other diabetic siblings had not inherited the mutant allele, implying that the P22R mutation was not the cause of MODY in this family. 11355020 2001
dbSNP: rs1232898090
rs1232898090
Entrez Id: 5465
Gene Symbol: PPARA
PPARA
CUI: C0020459
Disease:
Hyperinsulinism
0.010 GeneticVariation BEFREE The Pro12Ala polymorphism in the PPAR-gamma2 gene has been associated with reduced transcriptional activity in vitro and increased insulin sensitivity in vivo. 11334419 2001
dbSNP: rs1232898090
rs1232898090
Entrez Id: 5465
Gene Symbol: PPARA
PPARA
CUI: C3714619
Disease:
Insulin resistance syndrome
0.010 GeneticVariation BEFREE These findings support a role for the PPAR-gamma2 Pro12Ala variant in the etiology of type 2 diabetes and the insulin resistance syndrome. 11289057 2001
dbSNP: rs1800234
rs1800234
Entrez Id: 5465
Gene Symbol: PPARA
PPARA
CUI: C0342276
Disease:
Maturity onset diabetes mellitus in young
0.010 GeneticVariation BEFREE The D140Y and V227A mutations were found at similar frequencies in MODY and in nondiabetic Japanese subjects, suggesting that they were unlikely to be pathogenic. 11355020 2001
dbSNP: rs1232898090
rs1232898090
Entrez Id: 5465
Gene Symbol: PPARA
PPARA
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.100 GeneticVariation BEFREE Pro12Ala polymorphism in the peroxisome proliferator-activated receptor-gamma2 (PPARgamma2) is associated with higher levels of total cholesterol and LDL-cholesterol in male caucasian type 2 diabetes patients. 11928067 2002
dbSNP: rs1232898090
rs1232898090
Entrez Id: 5465
Gene Symbol: PPARA
PPARA
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.100 GeneticVariation BEFREE Association of the Pro12Ala polymorphism in the PPAR-gamma2 gene with 3-year incidence of type 2 diabetes and body weight change in the Finnish Diabetes Prevention Study. 12145174 2002
dbSNP: rs1232898090
rs1232898090
Entrez Id: 5465
Gene Symbol: PPARA
PPARA
CUI: C0271650
Disease:
Impaired glucose tolerance
0.030 GeneticVariation BEFREE The association of the Pro12Ala polymorphism of the PPAR-gamma2 gene with the incidence of type 2 diabetes was investigated in 522 subjects with impaired glucose tolerance (IGT) participating in the Finnish Diabetes Prevention Study. 12145174 2002
dbSNP: rs1232898090
rs1232898090
Entrez Id: 5465
Gene Symbol: PPARA
PPARA
CUI: C0242339
Disease:
Dyslipidemias
0.020 GeneticVariation BEFREE Pro12Ala polymorphism of PPAR(gamma2) gene is not associated with diabetic retinopathy but is associated with dyslipidemia in male type 2 diabetic patients. 11928067 2002
dbSNP: rs1800206
rs1800206
Entrez Id: 5465
Gene Symbol: PPARA
PPARA
CUI: C0004153
Disease:
Atherosclerosis
0.020 GeneticVariation BEFREE We investigated the association between the leucine 162 to valine (L162V) polymorphism and a G to C transversion in intron 7 of the PPARalpha gene and progression of atherosclerosis in the Lopid Coronary Angiography Trial (LOCAT), a trial examining the effect of gemfibrozil treatment on progression of atherosclerosis after bypass surgery and on risk of IHD in the second Northwick Park Heart Study (NPHS2), a prospective study of healthy middle-aged men in the United Kingdom. 11914252 2002
dbSNP: rs1800206
rs1800206
Entrez Id: 5465
Gene Symbol: PPARA
PPARA
CUI: C0003850
Disease:
Arteriosclerosis
0.020 GeneticVariation BEFREE We investigated the association between the leucine 162 to valine (L162V) polymorphism and a G to C transversion in intron 7 of the PPARalpha gene and progression of atherosclerosis in the Lopid Coronary Angiography Trial (LOCAT), a trial examining the effect of gemfibrozil treatment on progression of atherosclerosis after bypass surgery and on risk of IHD in the second Northwick Park Heart Study (NPHS2), a prospective study of healthy middle-aged men in the United Kingdom. 11914252 2002