DisGeNET - a database of gene-disease associations

Source: GENOMICS_ENGLAND

Disease: Arthrogryposis ×

Gene: TPM2 ×

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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:	7169
Gene Symbol:	TPM2

TPM2

CUI:	C0003886
Disease:	Arthrogryposis

Arthrogryposis

0.440

Biomarker

GENOMICS_ENGLAND

Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.

2013