DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Metaphyseal Anadysplasia 2 ×

Gene: MMP9 ×

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:	4318
Gene Symbol:	MMP9

MMP9

CUI:	C2751322
Disease:	Metaphyseal Anadysplasia 2

Metaphyseal Anadysplasia 2

0.500

Biomarker

GENOMICS_ENGLAND

Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia.

19615667

2009

Entrez Id:	4318
Gene Symbol:	MMP9

MMP9

CUI:	C2751322
Disease:	Metaphyseal Anadysplasia 2

Metaphyseal Anadysplasia 2

0.500

Biomarker

CTD_human