DisGeNET - a database of gene-disease associations

PIEZO1, piezo type mechanosensitive ion channel component 1, 9780

N. diseases: 130; N. variants: 42

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:

rs10445033

Entrez Id:	9780
Gene Symbol:	PIEZO1

PIEZO1

CUI:	C4528257
Disease:

Corpuscular Hemoglobin Concentration Mean

0.800

GeneticVariation

GWASDB

Seventy-five genetic loci influencing the human red blood cell.

23222517

2012

dbSNP:

rs10445033

Entrez Id:	9780
Gene Symbol:	PIEZO1

PIEZO1

CUI:	C4528257
Disease:

Corpuscular Hemoglobin Concentration Mean

0.800

GeneticVariation

GWASCAT

Genetic analyses of diverse populations improves discovery for complex traits.

31217584

2019

dbSNP:

rs10445033

Entrez Id:	9780
Gene Symbol:	PIEZO1

PIEZO1

CUI:	C4528257
Disease:

Corpuscular Hemoglobin Concentration Mean

0.800

GeneticVariation

GWASCAT

Seventy-five genetic loci influencing the human red blood cell.

23222517

2012

dbSNP:

rs10775348

Entrez Id:	9780;100289580
Gene Symbol:	PIEZO1;LOC100289580

PIEZO1;LOC100289580

CUI:	C0005890
Disease:

Body Height

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs111350029

Entrez Id:	9780;100289580
Gene Symbol:	PIEZO1;LOC100289580

PIEZO1;LOC100289580

CUI:	C0032181
Disease:

Platelet Count measurement

GGGAGGC

0.700

GeneticVariation

GWASCAT

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

27863252

2016

dbSNP:

rs1166021430

Entrez Id:	9780
Gene Symbol:	PIEZO1

PIEZO1

CUI:	C0020305
Disease:

Hydrops Fetalis

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1166021430

Entrez Id:	9780
Gene Symbol:	PIEZO1

PIEZO1

CUI:	C4225184
Disease:

LYMPHATIC MALFORMATION 6

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1567659736

Entrez Id:	9780
Gene Symbol:	PIEZO1

PIEZO1

CUI:	C0020305
Disease:

Hydrops Fetalis

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1567659736

Entrez Id:	9780
Gene Symbol:	PIEZO1

PIEZO1

CUI:	C4225184
Disease:

LYMPHATIC MALFORMATION 6

0.700

GeneticVariation

CLINVAR

dbSNP:

rs200970763

Entrez Id:	9780;100289580
Gene Symbol:	PIEZO1;LOC100289580

PIEZO1;LOC100289580

CUI:	C4551512
Disease:

DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA

0.700

GeneticVariation

UNIPROT

Dehydrated stomatocytic anemia due to the heterozygous mutation R2456H in the mechanosensitive cation channel PIEZO1: a case report.

23973043

2014

dbSNP:

rs200970763

Entrez Id:	9780;100289580
Gene Symbol:	PIEZO1;LOC100289580

PIEZO1;LOC100289580

CUI:	C4551512
Disease:

DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA

0.700

GeneticVariation

UNIPROT

Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis.

22529292

2012

dbSNP:

rs200970763

Entrez Id:	9780;100289580
Gene Symbol:	PIEZO1;LOC100289580

PIEZO1;LOC100289580

CUI:	C4551512
Disease:

DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA

0.700

GeneticVariation

UNIPROT

Recurrent mutation in the PIEZO1 gene in two families of hereditary xerocytosis with fetal hydrops.

23581886

2014

dbSNP:

rs200970763

Entrez Id:	9780;100289580
Gene Symbol:	PIEZO1;LOC100289580

PIEZO1;LOC100289580

CUI:	C4551512
Disease:

DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA

0.700

GeneticVariation

UNIPROT

Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1.

23479567

2013

dbSNP:

rs200970763

Entrez Id:	9780;100289580
Gene Symbol:	PIEZO1;LOC100289580

PIEZO1;LOC100289580

CUI:	C4551512
Disease:

DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA

0.700

GeneticVariation

UNIPROT

Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels.

23695678

2013

dbSNP:

rs200970763

Entrez Id:	9780;100289580
Gene Symbol:	PIEZO1;LOC100289580

PIEZO1;LOC100289580

CUI:	C4551512
Disease:

DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA

0.700

GeneticVariation

UNIPROT

Xerocytosis is caused by mutations that alter the kinetics of the mechanosensitive channel PIEZO1.

23487776

2013

dbSNP:

rs201226914

Entrez Id:	9780;100289580
Gene Symbol:	PIEZO1;LOC100289580

PIEZO1;LOC100289580

CUI:	C4225184
Disease:

LYMPHATIC MALFORMATION 6

0.700

GeneticVariation

UNIPROT

Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.

26333996

2015

dbSNP:

rs202099525

Entrez Id:	9780
Gene Symbol:	PIEZO1

PIEZO1

CUI:	C4528257
Disease:

Corpuscular Hemoglobin Concentration Mean

0.700

GeneticVariation

GWASCAT

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

27863252

2016

dbSNP:

rs202103485

Entrez Id:	9780;100289580
Gene Symbol:	PIEZO1;LOC100289580

PIEZO1;LOC100289580

CUI:	C4551512
Disease:

DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA

0.700

GeneticVariation

UNIPROT

dbSNP:

rs2608604

Entrez Id:	9780
Gene Symbol:	PIEZO1

PIEZO1

CUI:	C4528257
Disease:

Corpuscular Hemoglobin Concentration Mean

0.800

GeneticVariation

GWASDB

Seventy-five genetic loci influencing the human red blood cell.

23222517

2012

dbSNP:

rs2608604

Entrez Id:	9780
Gene Symbol:	PIEZO1

PIEZO1

CUI:	C4528257
Disease:

Corpuscular Hemoglobin Concentration Mean

0.800

GeneticVariation

GWASCAT

Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.

28017375

2017

dbSNP:

rs2911463

Entrez Id:	9780
Gene Symbol:	PIEZO1

PIEZO1

CUI:	C0042345
Disease:

Varicosity

0.700

GeneticVariation

GWASCAT

Clinical and Genetic Determinants of Varicose Veins.

30566020

2018

dbSNP:

rs2911463

Entrez Id:	9780
Gene Symbol:	PIEZO1

PIEZO1

CUI:	C0042345
Disease:

Varicosity

0.700

GeneticVariation

GWASCAT

Varicose veins of lower extremities: Insights from the first large-scale genetic study.

30998689

2019

dbSNP:

rs2926772

Entrez Id:	9780;107984842
Gene Symbol:	PIEZO1;LOC107984842

PIEZO1;LOC107984842

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:

rs2932690

Entrez Id:	9780
Gene Symbol:	PIEZO1

PIEZO1

CUI:	C4528257
Disease:

Corpuscular Hemoglobin Concentration Mean

0.700

GeneticVariation

GWASDB

Seventy-five genetic loci influencing the human red blood cell.

23222517

2012

dbSNP:

rs4238686

Entrez Id:	9780
Gene Symbol:	PIEZO1

PIEZO1

CUI:	C4528257
Disease:

Corpuscular Hemoglobin Concentration Mean

0.700

GeneticVariation

GWASCAT

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

27863252

2016