DisGeNET - a database of gene-disease associations

R3HDM2, R3H domain containing 2, 22864

N. diseases: 24; N. variants: 17

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:

rs4760278

Entrez Id:	22864
Gene Symbol:	R3HDM2

R3HDM2

CUI:	C0003868
Disease:

Arthritis, Gouty

0.700

GeneticVariation

GWASDB

Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

23263486

2013

dbSNP:

rs4760278

Entrez Id:	22864
Gene Symbol:	R3HDM2

R3HDM2

CUI:	C0018099
Disease:

Gout

0.700

GeneticVariation

GWASDB

Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.

20884846

2010

dbSNP:

rs4760278

Entrez Id:	22864
Gene Symbol:	R3HDM2

R3HDM2

CUI:	C0018099
Disease:

Gout

0.700

GeneticVariation

GWASDB

Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

23263486

2013

dbSNP:

rs4760278

Entrez Id:	22864
Gene Symbol:	R3HDM2

R3HDM2

CUI:	C0003868
Disease:

Arthritis, Gouty

0.700

GeneticVariation

GWASDB

Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.

20884846

2010

dbSNP:

rs4760355

Entrez Id:	22864
Gene Symbol:	R3HDM2

R3HDM2

CUI:	C0018099
Disease:

Gout

0.700

GeneticVariation

GWASDB

Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

23263486

2013

dbSNP:

rs4760355

Entrez Id:	22864
Gene Symbol:	R3HDM2

R3HDM2

CUI:	C0003868
Disease:

Arthritis, Gouty

0.700

GeneticVariation

GWASDB

Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

23263486

2013

dbSNP:

rs4760355

Entrez Id:	22864
Gene Symbol:	R3HDM2

R3HDM2

CUI:	C0018099
Disease:

Gout

0.700

GeneticVariation

GWASDB

Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.

20884846

2010

dbSNP:

rs4760355

Entrez Id:	22864
Gene Symbol:	R3HDM2

R3HDM2

CUI:	C0003868
Disease:

Arthritis, Gouty

0.700

GeneticVariation

GWASDB

Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.

20884846

2010

dbSNP:

rs61937595

Entrez Id:	22864
Gene Symbol:	R3HDM2

R3HDM2

CUI:	C0036341
Disease:

Schizophrenia

0.700

GeneticVariation

GWASCAT

Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.

29483656

2018

dbSNP:

rs7964492

Entrez Id:	22864
Gene Symbol:	R3HDM2

R3HDM2

CUI:	C0003868
Disease:

Arthritis, Gouty

0.700

GeneticVariation

GWASDB

Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.

20884846

2010

dbSNP:

rs7964492

Entrez Id:	22864
Gene Symbol:	R3HDM2

R3HDM2

CUI:	C0018099
Disease:

Gout

0.700

GeneticVariation

GWASDB

Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

23263486

2013

dbSNP:

rs7964492

Entrez Id:	22864
Gene Symbol:	R3HDM2

R3HDM2

CUI:	C0003868
Disease:

Arthritis, Gouty

0.700

GeneticVariation

GWASDB

Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

23263486

2013

dbSNP:

rs7964492

Entrez Id:	22864
Gene Symbol:	R3HDM2

R3HDM2

CUI:	C0018099
Disease:

Gout

0.700

GeneticVariation

GWASDB

Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.

20884846

2010

dbSNP:

rs1106766

Entrez Id:	22864
Gene Symbol:	R3HDM2

R3HDM2

CUI:	C0409959
Disease:

Osteoarthritis, Knee

0.010

GeneticVariation

BEFREE

With respect to gene-gene interactions, the pairwise interactions of rs112129861 (PDZK1) and rs7193778 (IGF1R); rs17050272 (INHBB) and rs1106766 (R3HDM2); rs1106766 (R3HDM2) and rs780093 (GCKR); rs1260326 (GCKR) and rs17786744 (STC1); and rs17786744 (STC1) and rs1106766 (R3HDM2) make it possible to visualize the synergistic or antagonistic effect of their genotypes or alleles on KOA development.

29855200

2019

dbSNP:

rs1106766

Entrez Id:	22864
Gene Symbol:	R3HDM2

R3HDM2

CUI:	C0022658
Disease:

Kidney Diseases

0.010

GeneticVariation

BEFREE

We demonstrated that minor alleles of rs1106766 (intergenic, INHBC) were negatively associated with the risk of incident gout in subjects without renal disease, but not for individuals with renal disease.

26427508

2016

dbSNP:

rs11613352

Entrez Id:	22864
Gene Symbol:	R3HDM2

R3HDM2

CUI:	C0020538
Disease:

Hypertensive disease

0.010

GeneticVariation

BEFREE

Association of low-density lipoprotein receptor-related protein 1 rs11613352 and angiopoietin-like 3 rs2131925 with hypertension might imply a direct effect at the artery wall.

29989339

2018

dbSNP:

rs11613352

Entrez Id:	22864
Gene Symbol:	R3HDM2

R3HDM2

CUI:	C0020445
Disease:

Hypercholesterolemia, Familial

0.010

GeneticVariation

BEFREE

The polymorphism rs11613352 may contribute to modulate the cardiovascular risk by modifying plasma lipid levels in familial hypercholesterolemia patients.

25278210

2015

dbSNP:

rs11613352

Entrez Id:	22864
Gene Symbol:	R3HDM2

R3HDM2

CUI:	C0745103
Disease:

Hyperlipoproteinemia Type IIa

0.010

GeneticVariation

BEFREE

The polymorphism rs11613352 may contribute to modulate the cardiovascular risk by modifying plasma lipid levels in familial hypercholesterolemia patients.

25278210

2015

dbSNP:

rs12315434

Entrez Id:	22864
Gene Symbol:	R3HDM2

R3HDM2

CUI:	C1956346
Disease:

Coronary Artery Disease

0.700

GeneticVariation

GWASCAT

Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

29212778

2018

dbSNP:

rs2122982

Entrez Id:	22864
Gene Symbol:	R3HDM2

R3HDM2

CUI:	C0005845
Disease:

Blood urea nitrogen measurement

0.700

GeneticVariation

GWASCAT

A catalog of genetic loci associated with kidney function from analyses of a million individuals.

31152163

2019

dbSNP:

rs11613352

Entrez Id:	22864
Gene Symbol:	R3HDM2

R3HDM2

CUI:	C0202236
Disease:

Triglycerides measurement

0.800

GeneticVariation

GWASCAT

A large electronic-health-record-based genome-wide study of serum lipids.

29507422

2018

dbSNP:

rs11613352

Entrez Id:	22864
Gene Symbol:	R3HDM2

R3HDM2

CUI:	C0392885
Disease:

High density lipoprotein measurement

0.800

GeneticVariation

GWASCAT

A large electronic-health-record-based genome-wide study of serum lipids.

29507422

2018

dbSNP:

rs540730

Entrez Id:	22864
Gene Symbol:	R3HDM2

R3HDM2

CUI:	C0392885
Disease:

High density lipoprotein measurement

0.700

GeneticVariation

GWASCAT

Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

30698716

2019

dbSNP:

rs540730

Entrez Id:	22864
Gene Symbol:	R3HDM2

R3HDM2

CUI:	C0202236
Disease:

Triglycerides measurement

0.700

GeneticVariation

GWASCAT

Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

30698716

2019

dbSNP:

rs540730

Entrez Id:	22864
Gene Symbol:	R3HDM2

R3HDM2

CUI:	C0001948
Disease:

Alcohol consumption

0.700

GeneticVariation

GWASCAT

Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

30698716

2019