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

GWASCAT

Genetic analyses of diverse populations improves discovery for complex traits.

31217584

2019

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:

rs587776991

Entrez Id:	9780
Gene Symbol:	PIEZO1

PIEZO1

CUI:	C4551512
Disease:

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

0.800

GeneticVariation

CLINVAR

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

23479567

2013

dbSNP:

rs587776991

Entrez Id:	9780
Gene Symbol:	PIEZO1

PIEZO1

CUI:	C4551512
Disease:

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

0.800

GeneticVariation

CLINVAR

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

23695678

2013

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

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

GWASDB

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

23222517

2012

dbSNP:

rs587776987

Entrez Id:	9780;100616167
Gene Symbol:	PIEZO1;MIR4722

PIEZO1;MIR4722

CUI:	C4551512
Disease:

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

0.800

GeneticVariation

UNIPROT

dbSNP:

rs587776987

Entrez Id:	9780;100616167
Gene Symbol:	PIEZO1;MIR4722

PIEZO1;MIR4722

CUI:	C4551512
Disease:

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

0.800

CausalMutation

CLINVAR

dbSNP:

rs587776988

Entrez Id:	9780;348180;100616167
Gene Symbol:	PIEZO1;CTU2;MIR4722

PIEZO1;CTU2;MIR4722

CUI:	C4551512
Disease:

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

0.800

GeneticVariation

UNIPROT

dbSNP:

rs587776988

Entrez Id:	9780;348180;100616167
Gene Symbol:	PIEZO1;CTU2;MIR4722

PIEZO1;CTU2;MIR4722

CUI:	C4551512
Disease:

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

0.800

CausalMutation

CLINVAR

dbSNP:

rs587776989

Entrez Id:	9780
Gene Symbol:	PIEZO1

PIEZO1

CUI:	C4551512
Disease:

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

0.800

GeneticVariation

UNIPROT

dbSNP:

rs587776989

Entrez Id:	9780
Gene Symbol:	PIEZO1

PIEZO1

CUI:	C4551512
Disease:

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

0.800

CausalMutation

CLINVAR

dbSNP:

rs587776990

Entrez Id:	9780
Gene Symbol:	PIEZO1

PIEZO1

CUI:	C4551512
Disease:

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

0.800

CausalMutation

CLINVAR

dbSNP:

rs587776990

Entrez Id:	9780
Gene Symbol:	PIEZO1

PIEZO1

CUI:	C4551512
Disease:

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

0.800

GeneticVariation

UNIPROT

dbSNP:

rs587776991

Entrez Id:	9780
Gene Symbol:	PIEZO1

PIEZO1

CUI:	C4551512
Disease:

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

0.800

CausalMutation

CLINVAR

dbSNP:

rs587776991

Entrez Id:	9780
Gene Symbol:	PIEZO1

PIEZO1

CUI:	C4551512
Disease:

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

0.800

GeneticVariation

UNIPROT

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:

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:

rs6500493

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

PIEZO1;LOC100289580

CUI:	C0427460
Disease:

Red cell distribution width determination

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs6500493

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

PIEZO1;LOC100289580

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:

rs7186082

Entrez Id:	9780;100616167
Gene Symbol:	PIEZO1;MIR4722

PIEZO1;MIR4722

CUI:	C0005890
Disease:

Body Height

0.700

GeneticVariation

GWASCAT

Characterizing rare and low-frequency height-associated variants in the Japanese population.

31562340

2019

dbSNP:

rs78579285

Entrez Id:	9780
Gene Symbol:	PIEZO1

PIEZO1

CUI:	C0042834
Disease:

Vital capacity

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

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:

rs8053350

Entrez Id:	9780
Gene Symbol:	PIEZO1

PIEZO1

CUI:	C0042345
Disease:

Varicosity

0.700

GeneticVariation

GWASCAT

Clinical and Genetic Determinants of Varicose Veins.

30566020

2018