DisGeNET - a database of gene-disease associations

Source: INFERRED

Disease: Arthrogryposis ×

Gene: PIEZO2 ×

Results per page

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:	C0003886
Disease:	Arthrogryposis

Arthrogryposis

0.130

CausalMutation

CLINVAR

The genomic and clinical landscape of fetal akinesia.

31680123

2020

Entrez Id:	63895
Gene Symbol:	PIEZO2

PIEZO2

CUI:	C0003886
Disease:	Arthrogryposis

Arthrogryposis

0.130

CausalMutation

CLINVAR

Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects.

27974811

2017

Entrez Id:	63895
Gene Symbol:	PIEZO2

PIEZO2

CUI:	C0003886
Disease:	Arthrogryposis

Arthrogryposis

0.130

Biomarker

HPO