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:

rs1106766

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:

rs1106766

Entrez Id:	22864
Gene Symbol:	R3HDM2

R3HDM2

CUI:	C0202239
Disease:

Uric acid measurement (procedure)

0.700

GeneticVariation

GWASCAT

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:	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:

rs1106766

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:

rs1106766

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:	C0201976
Disease:

Creatinine measurement, serum (procedure)

0.700

GeneticVariation

GWASCAT

Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

26831199

2016

dbSNP:

rs1106766

Entrez Id:	22864
Gene Symbol:	R3HDM2

R3HDM2

CUI:	C0017654
Disease:

Glomerular Filtration Rate

0.700

GeneticVariation

GWASCAT

Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

26831199

2016

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:

rs11172147

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:

rs11172147

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:

rs11172147

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:

rs11172147

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:

rs11609805

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:

rs11609805

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:

rs11609805

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:

rs11609805

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:

rs11613352

Entrez Id:	22864
Gene Symbol:	R3HDM2

R3HDM2

CUI:	C0392885
Disease:

High density lipoprotein measurement

0.800

GeneticVariation

GWASCAT

Biological, clinical and population relevance of 95 loci for blood lipids.

20686565

2010

dbSNP:

rs11613352

Entrez Id:	22864
Gene Symbol:	R3HDM2

R3HDM2

CUI:	C0392885
Disease:

High density lipoprotein measurement

0.800

GeneticVariation

GWASCAT

Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.

28334899

2017

dbSNP:

rs11613352

Entrez Id:	22864
Gene Symbol:	R3HDM2

R3HDM2

CUI:	C0392885
Disease:

High density lipoprotein measurement

0.800

GeneticVariation

GWASCAT

Discovery and refinement of loci associated with lipid levels.

24097068

2013

dbSNP:

rs11613352

Entrez Id:	22864
Gene Symbol:	R3HDM2

R3HDM2

CUI:	C0392885
Disease:

High density lipoprotein measurement

0.800

GeneticVariation

GWASDB

Discovery and refinement of loci associated with lipid levels.

24097068

2013

dbSNP:

rs11613352

Entrez Id:	22864
Gene Symbol:	R3HDM2

R3HDM2

CUI:	C0392885
Disease:

High density lipoprotein measurement

0.800

GeneticVariation

GWASDB

Biological, clinical and population relevance of 95 loci for blood lipids.

20686565

2010

dbSNP:

rs11613352

Entrez Id:	22864
Gene Symbol:	R3HDM2

R3HDM2

CUI:	C0202236
Disease:

Triglycerides measurement

0.800

GeneticVariation

GWASDB

Discovery and refinement of loci associated with lipid levels.

24097068

2013

dbSNP:

rs11613352

Entrez Id:	22864
Gene Symbol:	R3HDM2

R3HDM2

CUI:	C0202236
Disease:

Triglycerides measurement

0.800

GeneticVariation

GWASCAT

Discovery and refinement of loci associated with lipid levels.

24097068

2013

dbSNP:

rs11613352

Entrez Id:	22864
Gene Symbol:	R3HDM2

R3HDM2

CUI:	C0202236
Disease:

Triglycerides measurement

0.800

GeneticVariation

GWASCAT

Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.

28334899

2017