DisGeNET - a database of gene-disease associations

ATP11A, ATPase phospholipid transporting 11A, 23250

N. diseases: 42; N. variants: 9

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:

rs1278769

Entrez Id:	23250
Gene Symbol:	ATP11A

ATP11A

CUI:	C0206062
Disease:

Lung Diseases, Interstitial

0.800

GeneticVariation

GWASCAT

Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.

23583980

2013

dbSNP:

rs1278769

Entrez Id:	23250
Gene Symbol:	ATP11A

ATP11A

CUI:	C0206062
Disease:

Lung Diseases, Interstitial

0.800

GeneticVariation

GWASDB

Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.

23583980

2013

dbSNP:

rs12876143

Entrez Id:	23250
Gene Symbol:	ATP11A

ATP11A

CUI:	C1304746
Disease:

RDW - Red blood cell distribution width result

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs12876143

Entrez Id:	23250
Gene Symbol:	ATP11A

ATP11A

CUI:	C0427460
Disease:

Red cell distribution width determination

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs12876143

Entrez Id:	23250
Gene Symbol:	ATP11A

ATP11A

CUI:	C0014772
Disease:

Red Blood Cell Count measurement

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs1765871

Entrez Id:	23250
Gene Symbol:	ATP11A

ATP11A

CUI:	C0206710
Disease:

Basal Cell Neoplasm

0.700

GeneticVariation

GWASCAT

Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

31174203

2019

dbSNP:

rs1765871

Entrez Id:	23250
Gene Symbol:	ATP11A

ATP11A

CUI:	C0007117
Disease:

Basal cell carcinoma

0.700

GeneticVariation

GWASCAT

Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

31174203

2019

dbSNP:

rs1765871

Entrez Id:	23250
Gene Symbol:	ATP11A

ATP11A

CUI:	C0751676
Disease:

Basal Cell Cancer

0.700

GeneticVariation

GWASCAT

Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

31174203

2019

dbSNP:

rs368865

Entrez Id:	23250
Gene Symbol:	ATP11A

ATP11A

CUI:	C0014772
Disease:

Red Blood Cell Count measurement

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs368865

Entrez Id:	23250
Gene Symbol:	ATP11A

ATP11A

CUI:	C0427460
Disease:

Red cell distribution width determination

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs368865

Entrez Id:	23250
Gene Symbol:	ATP11A

ATP11A

CUI:	C1304746
Disease:

RDW - Red blood cell distribution width result

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs368865

Entrez Id:	23250
Gene Symbol:	ATP11A

ATP11A

CUI:	C1261502
Disease:

Finding of Mean Corpuscular Hemoglobin

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs71446622

Entrez Id:	23250
Gene Symbol:	ATP11A

ATP11A

CUI:	C1261502
Disease:

Finding of Mean Corpuscular Hemoglobin

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs3742233

Entrez Id:	23250
Gene Symbol:	ATP11A

ATP11A

CUI:	C0406208
Disease:

Suntan

0.700

GeneticVariation

GWASCAT

Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure.

29739929

2018

dbSNP:

rs368865

Entrez Id:	23250
Gene Symbol:	ATP11A

ATP11A

CUI:	C1304746
Disease:

RDW - Red blood cell distribution width result

0.700

GeneticVariation

GWASCAT

Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

28957414

2017

dbSNP:

rs368865

Entrez Id:	23250
Gene Symbol:	ATP11A

ATP11A

CUI:	C0427460
Disease:

Red cell distribution width determination

0.700

GeneticVariation

GWASCAT

Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

28957414

2017

dbSNP:

rs76533333

Entrez Id:	23250
Gene Symbol:	ATP11A

ATP11A

CUI:	C1304746
Disease:

RDW - Red blood cell distribution width result

0.700

GeneticVariation

GWASCAT

Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

28957414

2017

dbSNP:

rs76533333

Entrez Id:	23250
Gene Symbol:	ATP11A

ATP11A

CUI:	C0427460
Disease:

Red cell distribution width determination

0.700

GeneticVariation

GWASCAT

Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

28957414

2017

dbSNP:

rs34011672

Entrez Id:	23250
Gene Symbol:	ATP11A

ATP11A

CUI:	C0206161
Disease:

Reticulocyte count (procedure)

0.700

GeneticVariation

GWASCAT

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

27863252

2016

dbSNP:

rs71446622

Entrez Id:	23250
Gene Symbol:	ATP11A

ATP11A

CUI:	C0524587
Disease:

Mean Corpuscular Volume (result)

0.700

GeneticVariation

GWASCAT

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

27863252

2016

dbSNP:

rs76533333

Entrez Id:	23250
Gene Symbol:	ATP11A

ATP11A

CUI:	C0427460
Disease:

Red cell distribution width determination

0.700

GeneticVariation

GWASCAT

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

27863252

2016

dbSNP:

rs76533333

Entrez Id:	23250
Gene Symbol:	ATP11A

ATP11A

CUI:	C1304746
Disease:

RDW - Red blood cell distribution width result

0.700

GeneticVariation

GWASCAT

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

27863252

2016

dbSNP:

rs779467346

Entrez Id:	23250
Gene Symbol:	ATP11A

ATP11A

CUI:	C0002736
Disease:

Amyotrophic Lateral Sclerosis

0.010

GeneticVariation

BEFREE

Its loss was investigated in the G93A mouse model of amyotrophic lateral sclerosis (ALS) in which the mutation of Cu/Zn superoxide dismutase (SOD1) is thought to lead to aberrant oxidative damage.

12514200

2003