DisGeNET - a database of gene-disease associations

SIPA1, signal-induced proliferation-associated 1, 6494

N. diseases: 59; N. variants: 7

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:

rs2306363

Entrez Id:	6494
Gene Symbol:	SIPA1

SIPA1

CUI:	C0392885
Disease:

High density lipoprotein measurement

0.700

GeneticVariation

GWASCAT

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

30275531

2018

dbSNP:

rs2306363

Entrez Id:	6494
Gene Symbol:	SIPA1

SIPA1

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:

rs2306363

Entrez Id:	6494
Gene Symbol:	SIPA1

SIPA1

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs2306363

Entrez Id:	6494
Gene Symbol:	SIPA1

SIPA1

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:

rs2306363

Entrez Id:	6494
Gene Symbol:	SIPA1

SIPA1

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:

rs2306363

Entrez Id:	6494
Gene Symbol:	SIPA1

SIPA1

CUI:	C1306620
Disease:

Systolic blood pressure measurement

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:

rs2306363

Entrez Id:	6494
Gene Symbol:	SIPA1

SIPA1

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:

rs2306363

Entrez Id:	6494
Gene Symbol:	SIPA1

SIPA1

CUI:	C1305849
Disease:

Diastolic blood pressure measurement

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:

rs2306363

Entrez Id:	6494
Gene Symbol:	SIPA1

SIPA1

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:

rs2306363

Entrez Id:	6494
Gene Symbol:	SIPA1

SIPA1

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:

rs2306363

Entrez Id:	6494
Gene Symbol:	SIPA1

SIPA1

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:

rs2306364

Entrez Id:	6494
Gene Symbol:	SIPA1

SIPA1

CUI:	C0027651
Disease:

Neoplasms

0.010

GeneticVariation

BEFREE

Two SIPA1 SNPs, rs746429 and rs2306364, were associated with decreased risk of triple-negative tumors (P trend = 0.04 and 0.07, respectively).

23771732

2013

dbSNP:

rs2448490

Entrez Id:	6494
Gene Symbol:	SIPA1

SIPA1

CUI:	C0032181
Disease:

Platelet Count measurement

0.700

GeneticVariation

GWASCAT

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

27863252

2016

dbSNP:

rs3741378

Entrez Id:	6494
Gene Symbol:	SIPA1

SIPA1

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals.

27618452

2016

dbSNP:

rs3741378

Entrez Id:	6494
Gene Symbol:	SIPA1

SIPA1

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:

rs3741378

Entrez Id:	6494
Gene Symbol:	SIPA1

SIPA1

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:

rs3741378

Entrez Id:	6494
Gene Symbol:	SIPA1

SIPA1

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:

rs3741378

Entrez Id:	6494
Gene Symbol:	SIPA1

SIPA1

CUI:	C0205682
Disease:

Waist-Hip Ratio

0.700

GeneticVariation

GWASCAT

Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors.

30575882

2018

dbSNP:

rs3741378

Entrez Id:	6494
Gene Symbol:	SIPA1

SIPA1

CUI:	C0006142
Disease:

Malignant neoplasm of breast

0.030

GeneticVariation

BEFREE

However, rs931127 and rs3741378 were not found to be associated with breast cancer in our analysis.

24006220

2014

dbSNP:

rs3741378

Entrez Id:	6494
Gene Symbol:	SIPA1

SIPA1

CUI:	C0678222
Disease:

Breast Carcinoma

0.030

GeneticVariation

BEFREE

Results indicated significance with SIPA1 SNP rs3741378; the CC genotype was more frequently observed in the breast cancer group compared to the disease-free control group, indicating the variant C allele was associated with increased breast cancer incidence.

19765277

2009

dbSNP:

rs3741378

Entrez Id:	6494
Gene Symbol:	SIPA1

SIPA1

CUI:	C0678222
Disease:

Breast Carcinoma

0.030

GeneticVariation

BEFREE

Overall, we found no significant associations between genetic variants of SIPA1 SNPs and breast cancer risk (per allele odds ratios, 95% confidence intervals (CI): rs931127-0.99, 0.93-1.06; rs3741378-1.03, 0.94-1.13; and, rs74642-0.98, 0.92-1.04).

19089925

2009

dbSNP:

rs3741378

Entrez Id:	6494
Gene Symbol:	SIPA1

SIPA1

CUI:	C0006142
Disease:

Malignant neoplasm of breast

0.030

GeneticVariation

BEFREE

19765277

2009

dbSNP:

rs3741378

Entrez Id:	6494
Gene Symbol:	SIPA1

SIPA1

CUI:	C0006142
Disease:

Malignant neoplasm of breast

0.030

GeneticVariation

BEFREE

19089925

2009

dbSNP:

rs3741378

Entrez Id:	6494
Gene Symbol:	SIPA1

SIPA1

CUI:	C0678222
Disease:

Breast Carcinoma

0.030

GeneticVariation

BEFREE

However, rs931127 and rs3741378 were not found to be associated with breast cancer in our analysis.

24006220

2014

dbSNP:

rs3741378

Entrez Id:	6494
Gene Symbol:	SIPA1

SIPA1

CUI:	C0027651
Disease:

Neoplasms

0.020

GeneticVariation

BEFREE

The variant 2760G>A and the -313G>A allele were associated with lymph node involvement (P = 0.0062 and P = 0.0083, respectively), and the variant 545C>T was associated with estrogen receptor negative tumors (P = 0.0012) and with progesterone negative tumors (P = 0.0339).

16563182

2006