DisGeNET - a database of gene-disease associations

PINX1, PIN2 (TERF1) interacting telomerase inhibitor 1, 54984

N. diseases: 88; N. variants: 15

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:

rs11776767

Entrez Id:	54984;100302166
Gene Symbol:	PINX1;MIR1322

PINX1;MIR1322

CUI:	C0202236
Disease:

Triglycerides measurement

0.800

GeneticVariation

GWASDB

Discovery and refinement of loci associated with lipid levels.

24097068

2013

dbSNP:

rs11776767

Entrez Id:	54984;100302166
Gene Symbol:	PINX1;MIR1322

PINX1;MIR1322

CUI:	C0202236
Disease:

Triglycerides measurement

0.800

GeneticVariation

GWASCAT

Discovery and refinement of loci associated with lipid levels.

24097068

2013

dbSNP:

rs6601530

Entrez Id:	54984
Gene Symbol:	PINX1

PINX1

CUI:	C0004153
Disease:

Atherosclerosis

0.800

GeneticVariation

GWASDB

Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque.

21909108

2011

dbSNP:

rs6601530

Entrez Id:	54984
Gene Symbol:	PINX1

PINX1

CUI:	C0004153
Disease:

Atherosclerosis

0.800

GeneticVariation

GWASCAT

Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque.

21909108

2011

dbSNP:

rs11776767

Entrez Id:	54984;100302166
Gene Symbol:	PINX1;MIR1322

PINX1;MIR1322

CUI:	C0202236
Disease:

Triglycerides measurement

0.800

GeneticVariation

GWASCAT

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

20686565

2010

dbSNP:

rs11776767

Entrez Id:	54984;100302166
Gene Symbol:	PINX1;MIR1322

PINX1;MIR1322

CUI:	C0202236
Disease:

Triglycerides measurement

0.800

GeneticVariation

GWASDB

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

20686565

2010

dbSNP:

rs4841436

Entrez Id:	54984;102723313
Gene Symbol:	PINX1;LOC102723313

PINX1;LOC102723313

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs10100265

Entrez Id:	54984
Gene Symbol:	PINX1

PINX1

CUI:	C0011860
Disease:

Diabetes Mellitus, Non-Insulin-Dependent

0.700

GeneticVariation

GWASCAT

Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes.

30054458

2018

dbSNP:

rs13276026

Entrez Id:	54984;102723313
Gene Symbol:	PINX1;LOC102723313

PINX1;LOC102723313

CUI:	C0001948
Disease:

Alcohol consumption

0.700

GeneticVariation

GWASCAT

Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

29912962

2018

dbSNP:

rs13276026

Entrez Id:	54984;102723313
Gene Symbol:	PINX1;LOC102723313

PINX1;LOC102723313

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

29912962

2018

dbSNP:

rs13276026

Entrez Id:	54984;102723313
Gene Symbol:	PINX1;LOC102723313

PINX1;LOC102723313

CUI:	C0428886
Disease:

Mean blood pressure

0.700

GeneticVariation

GWASCAT

Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

29912962

2018

dbSNP:

rs28570522

Entrez Id:	54984;102723313
Gene Symbol:	PINX1;LOC102723313

PINX1;LOC102723313

CUI:	C0001144
Disease:

Acne Vulgaris

0.700

GeneticVariation

GWASCAT

Genome-wide meta-analysis implicates mediators of hair follicle development and morphogenesis in risk for severe acne.

30542056

2018

dbSNP:

rs2898245

Entrez Id:	54984
Gene Symbol:	PINX1

PINX1

CUI:	C0596887
Disease:

mathematical ability

0.700

GeneticVariation

GWASCAT

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.

30038396

2018

dbSNP:

rs4551304

Entrez Id:	54984
Gene Symbol:	PINX1

PINX1

CUI:	C0428886
Disease:

Mean blood pressure

0.700

GeneticVariation

GWASCAT

Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

29912962

2018

dbSNP:

rs4551304

Entrez Id:	54984
Gene Symbol:	PINX1

PINX1

CUI:	C0428883
Disease:

Diastolic blood pressure

0.700

GeneticVariation

GWASCAT

Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

29912962

2018

dbSNP:

rs4551304

Entrez Id:	54984
Gene Symbol:	PINX1

PINX1

CUI:	C0001948
Disease:

Alcohol consumption

0.700

GeneticVariation

GWASCAT

Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

29912962

2018

dbSNP:

rs6995692

Entrez Id:	54984;83595;102723313
Gene Symbol:	PINX1;SOX7;LOC102723313

PINX1;SOX7;LOC102723313

CUI:	C0428883
Disease:

Diastolic blood pressure

0.700

GeneticVariation

GWASCAT

A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure.

29455858

2018

dbSNP:

rs6995692

Entrez Id:	54984;83595;102723313
Gene Symbol:	PINX1;SOX7;LOC102723313

PINX1;SOX7;LOC102723313

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure.

29455858

2018

dbSNP:

rs7814757

Entrez Id:	54984
Gene Symbol:	PINX1

PINX1

CUI:	C0001948
Disease:

Alcohol consumption

0.700

GeneticVariation

GWASCAT

Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

29912962

2018

dbSNP:

rs7814757

Entrez Id:	54984
Gene Symbol:	PINX1

PINX1

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

29912962

2018

dbSNP:

rs9657541

Entrez Id:	54984
Gene Symbol:	PINX1

PINX1

CUI:	C0202236
Disease:

Triglycerides measurement

0.700

GeneticVariation

GWASCAT

Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

30275531

2018

dbSNP:

rs1821002

Entrez Id:	54984
Gene Symbol:	PINX1

PINX1

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk.

28135244

2017

dbSNP:

rs6995541

Entrez Id:	54984
Gene Symbol:	PINX1

PINX1

CUI:	C0202236
Disease:

Triglycerides measurement

0.700

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:

rs11250079

Entrez Id:	54984
Gene Symbol:	PINX1

PINX1

CUI:	C0200635
Disease:

Lymphocyte Count measurement

0.700

GeneticVariation

GWASCAT

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

27863252

2016

dbSNP:

rs13271456

Entrez Id:	54984;102723313
Gene Symbol:	PINX1;LOC102723313

PINX1;LOC102723313

CUI:	C1519383
Disease:

Smoking Behaviors

0.700

GeneticVariation

GWASCAT

Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.

26053186

2015