DisGeNET - a database of gene-disease associations

Gene: PIEZO2 ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	63895
Gene Symbol:	PIEZO2

PIEZO2

CUI:	C0220666
Disease:	ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA

ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA

0.740

CausalMutation

CLINVAR

Exome sequencing of five GS-affected families identified mutations in piezo-type mechanosensitive ion channel component 2 (PIEZO2) in each family.

2014