DisGeNET - a database of gene-disease associations

PPARA, peroxisome proliferator activated receptor alpha, 5465

N. diseases: 408; N. variants: 20

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs4253772

Entrez Id:	5465
Gene Symbol:	PPARA

PPARA

CUI:	C1445957
Disease:

Serum total cholesterol measurement

0.800

GeneticVariation

GWASDB

Discovery and refinement of loci associated with lipid levels.

24097068

2013

dbSNP:

rs4253772

Entrez Id:	5465
Gene Symbol:	PPARA

PPARA

CUI:	C0202117
Disease:

Low density lipoprotein cholesterol measurement

0.800

GeneticVariation

GWASCAT

Discovery and refinement of loci associated with lipid levels.

24097068

2013

dbSNP:

rs4253772

Entrez Id:	5465
Gene Symbol:	PPARA

PPARA

CUI:	C1445957
Disease:

Serum total cholesterol measurement

0.800

GeneticVariation

GWASCAT

Discovery and refinement of loci associated with lipid levels.

24097068

2013

dbSNP:

rs4253772

Entrez Id:	5465
Gene Symbol:	PPARA

PPARA

CUI:	C0202117
Disease:

Low density lipoprotein cholesterol measurement

0.800

GeneticVariation

GWASDB

Discovery and refinement of loci associated with lipid levels.

24097068

2013

dbSNP:

rs4253755

Entrez Id:	5465
Gene Symbol:	PPARA

PPARA

CUI:	C0200638
Disease:

Eosinophil count procedure

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs4253755

Entrez Id:	5465
Gene Symbol:	PPARA

PPARA

CUI:	C0005890
Disease:

Body Height

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs4253772

Entrez Id:	5465
Gene Symbol:	PPARA

PPARA

CUI:	C0428474
Disease:

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

Discovery and refinement of loci associated with lipid levels.

24097068

2013

dbSNP:

rs4253624

Entrez Id:	5465
Gene Symbol:	PPARA

PPARA

CUI:	C0428472
Disease:

Serum HDL cholesterol measurement

0.700

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

dbSNP:

rs4253624

Entrez Id:	5465
Gene Symbol:	PPARA

PPARA

CUI:	C0392885
Disease:

High density lipoprotein measurement

0.700

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

dbSNP:

rs4253642

Entrez Id:	5465;105373074
Gene Symbol:	PPARA;LOC105373074

PPARA;LOC105373074

CUI:	C0392885
Disease:

High density lipoprotein measurement

0.700

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

dbSNP:

rs4253642

Entrez Id:	5465;105373074
Gene Symbol:	PPARA;LOC105373074

PPARA;LOC105373074

CUI:	C0428472
Disease:

Serum HDL cholesterol measurement

0.700

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

dbSNP:

rs4253642

Entrez Id:	5465;105373074
Gene Symbol:	PPARA;LOC105373074

PPARA;LOC105373074

CUI:	C1445957
Disease:

Serum total cholesterol measurement

0.700

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

dbSNP:

rs4253642

Entrez Id:	5465;105373074
Gene Symbol:	PPARA;LOC105373074

PPARA;LOC105373074

CUI:	C0428474
Disease:

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

dbSNP:

rs4253642

Entrez Id:	5465;105373074
Gene Symbol:	PPARA;LOC105373074

PPARA;LOC105373074

CUI:	C0202117
Disease:

Low density lipoprotein cholesterol measurement

0.700

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

dbSNP:

rs9626814

Entrez Id:	5465
Gene Symbol:	PPARA

PPARA

CUI:	C0027404
Disease:

Narcolepsy

0.700

GeneticVariation

GWASDB

Genome-wide association database developed in the Japanese Integrated Database Project.

19629137

2009

dbSNP:

rs1800206

Entrez Id:	5465
Gene Symbol:	PPARA

PPARA

CUI:	C1868414
Disease:

HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO

0.700

SusceptibilityMutation

CLINVAR

dbSNP:

rs1232898090

Entrez Id:	5465
Gene Symbol:	PPARA

PPARA

CUI:	C0028754
Disease:

Obesity

0.100

GeneticVariation

BEFREE

The association between the Pro12Ala polymorphism of the <i>PPARγ2</i> gene, type 2 diabetes (T2D), and obesity in certain ethnic populations has been reported.

29621178

2018

dbSNP:

rs1232898090

Entrez Id:	5465
Gene Symbol:	PPARA

PPARA

CUI:	C0011860
Disease:

Diabetes Mellitus, Non-Insulin-Dependent

0.100

GeneticVariation

BEFREE

Assessment of the Pro12Ala Polymorphism in the PPAR-γ2 Gene among Type 2 Diabetes Patients in a Nigerian Population.

29621178

2018

dbSNP:

rs1232898090

Entrez Id:	5465
Gene Symbol:	PPARA

PPARA

CUI:	C0011860
Disease:

Diabetes Mellitus, Non-Insulin-Dependent

0.100

GeneticVariation

BEFREE

The Pro12Ala (rs1801282) polymorphism in peroxisome proliferator-activated receptor-γ2 (PPAR-γ2) has been convincingly associated with insulin resistance (IR) and type 2 diabetes (T2D) among Europeans, in interaction with a high-fat diet.

27075119

2016

dbSNP:

rs1232898090

Entrez Id:	5465
Gene Symbol:	PPARA

PPARA

CUI:	C0028754
Disease:

Obesity

0.100

GeneticVariation

BEFREE

Mexico is disproportionally affected by obesity and T2D however, whether the Pro12Ala polymorphism is associated with early metabolic complications in this population is unknown.

27075119

2016

dbSNP:

rs1232898090

Entrez Id:	5465
Gene Symbol:	PPARA

PPARA

CUI:	C0011860
Disease:

Diabetes Mellitus, Non-Insulin-Dependent

0.100

GeneticVariation

BEFREE

Effect of the PPARG2 Pro12Ala Polymorphism on Associations of Physical Activity and Sedentary Time with Markers of Insulin Sensitivity in Those with an Elevated Risk of Type 2 Diabetes.

25974167

2015

dbSNP:

rs1232898090

Entrez Id:	5465
Gene Symbol:	PPARA

PPARA

CUI:	C0028754
Disease:

Obesity

0.100

GeneticVariation

BEFREE

The combined results showed that PPAR-γ Pro1</span>2Ala polymorphism was associated with the obesit</span>y risk (Ala vs.

25502405

2015

dbSNP:

rs1232898090

Entrez Id:	5465
Gene Symbol:	PPARA

PPARA

CUI:	C0011860
Disease:

Diabetes Mellitus, Non-Insulin-Dependent

0.100

GeneticVariation

BEFREE

We also confirmed that Pro12Ala mutation in PPAR-γ2 is not associated with T2DM risk in this population.

26273662

2015

dbSNP:

rs1232898090

Entrez Id:	5465
Gene Symbol:	PPARA

PPARA

CUI:	C0011860
Disease:

Diabetes Mellitus, Non-Insulin-Dependent

0.100

GeneticVariation

BEFREE

Pro12Ala mutation decreases PPARG activity and resistance to NIDDM.

22937051

2012

dbSNP:

rs1232898090

Entrez Id:	5465
Gene Symbol:	PPARA

PPARA

CUI:	C0028754
Disease:

Obesity

0.100

GeneticVariation

BEFREE

PPAR-gamma2 pro12Ala polymorphism is associated with post-challenge abnormalities of glucose homeostasis in children and adolescents with obesity.

21528816

2011