DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Disproportionate short stature ×

Gene: MMP13 ×

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:	4322
Gene Symbol:	MMP13

MMP13

CUI:	C0878659
Disease:	Disproportionate short stature

Disproportionate short stature

0.400

CausalMutation

CLINVAR

Entrez Id:	4322
Gene Symbol:	MMP13

MMP13

CUI:	C0878659
Disease:	Disproportionate short stature

Disproportionate short stature

0.400

Biomarker

GENOMICS_ENGLAND

Entrez Id:	4322
Gene Symbol:	MMP13

MMP13

CUI:	C0878659
Disease:	Disproportionate short stature

Disproportionate short stature

0.400

Biomarker

HPO