DisGeNET - a database of gene-disease associations

PRDM6, PR/SET domain 6, 93166

N. diseases: 48; N. variants: 13

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:

rs879253872

Entrez Id:	93166
Gene Symbol:	PRDM6

PRDM6

CUI:	C4310753
Disease:

PATENT DUCTUS ARTERIOSUS 3

0.800

GeneticVariation

UNIPROT

Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus.

27181681

2016

dbSNP:

rs879255278

Entrez Id:	93166
Gene Symbol:	PRDM6

PRDM6

CUI:	C4310753
Disease:

PATENT DUCTUS ARTERIOSUS 3

0.800

GeneticVariation

UNIPROT

Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus.

27181681

2016

dbSNP:

rs879255279

Entrez Id:	93166
Gene Symbol:	PRDM6

PRDM6

CUI:	C4310753
Disease:

PATENT DUCTUS ARTERIOSUS 3

0.800

GeneticVariation

UNIPROT

Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus.

27181681

2016

dbSNP:

rs879253872

Entrez Id:	93166
Gene Symbol:	PRDM6

PRDM6

CUI:	C4310753
Disease:

PATENT DUCTUS ARTERIOSUS 3

0.800

CausalMutation

CLINVAR

dbSNP:

rs879255278

Entrez Id:	93166
Gene Symbol:	PRDM6

PRDM6

CUI:	C4310753
Disease:

PATENT DUCTUS ARTERIOSUS 3

0.800

CausalMutation

CLINVAR

dbSNP:

rs879255279

Entrez Id:	93166
Gene Symbol:	PRDM6

PRDM6

CUI:	C4310753
Disease:

PATENT DUCTUS ARTERIOSUS 3

0.800

CausalMutation

CLINVAR

dbSNP:

rs1422279

Entrez Id:	93166
Gene Symbol:	PRDM6

PRDM6

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs555625

Entrez Id:	93166
Gene Symbol:	PRDM6

PRDM6

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

30578418

2019

dbSNP:

rs74661587

Entrez Id:	93166
Gene Symbol:	PRDM6

PRDM6

CUI:	C0007222
Disease:

Cardiovascular Diseases

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs2546343

Entrez Id:	93166
Gene Symbol:	PRDM6

PRDM6

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:

rs10629804

Entrez Id:	93166
Gene Symbol:	PRDM6

PRDM6

CUI:	C0678222
Disease:

Breast Carcinoma

GCTTCA

0.700

GeneticVariation

GWASCAT

Association analysis identifies 65 new breast cancer risk loci.

29059683

2017

dbSNP:

rs13359291

Entrez Id:	93166
Gene Symbol:	PRDM6

PRDM6

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

27841878

2017

dbSNP:

rs13359291

Entrez Id:	93166
Gene Symbol:	PRDM6

PRDM6

CUI:	C0428883
Disease:

Diastolic blood pressure

0.700

GeneticVariation

GWASCAT

Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

27841878

2017

dbSNP:

rs186749

Entrez Id:	93166
Gene Symbol:	PRDM6

PRDM6

CUI:	C0002170
Disease:

Alopecia

0.700

GeneticVariation

GWASCAT

Genetic prediction of male pattern baldness.

28196072

2017

dbSNP:

rs1008058

Entrez Id:	93166
Gene Symbol:	PRDM6

PRDM6

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.

27618447

2016

dbSNP:

rs13359291

Entrez Id:	93166
Gene Symbol:	PRDM6

PRDM6

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation.

26390057

2015

dbSNP:

rs335170

Entrez Id:	93166
Gene Symbol:	PRDM6

PRDM6

CUI:	C0028754
Disease:

Obesity

0.010

GeneticVariation

BEFREE

We identified seven potentially pleiotropic loci-rs3759579 (MARK3), rs2178950 (TRPS1), rs1473 (PUM1), rs9825174 (XXYLT1), rs2047937 (ZNF423), rs17277372 (DNM3), and rs335170 (PRDM6)-associated with osteoporosis and obesity.

29145611

2018

dbSNP:

rs335170

Entrez Id:	93166
Gene Symbol:	PRDM6

PRDM6

CUI:	C0029456
Disease:

Osteoporosis

0.010

GeneticVariation

BEFREE

29145611

2018

dbSNP:

rs1037630475

Entrez Id:	93166;105379152
Gene Symbol:	PRDM6;LOC105379152

PRDM6;LOC105379152

CUI:	C0018816
Disease:

Heart Septal Defects

0.010

GeneticVariation

BEFREE

Two novel heterozygous mutations were discovered in the GATA4 gene in five children with cardiac septal defects (10%, 5/50), His28Tyr in exon 2 and His436Tyr in exon 7, respectively, which were neither found in the control population nor reported in the SNP database at the website http://www.ncbi.nlm.nih.gov/SNP.

19915893

2010