DisGeNET - a database of gene-disease associations

Gene: MASP2 ×

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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:	10747
Gene Symbol:	MASP2

MASP2

CUI:	C0272242
Disease:	Complement deficiency disease

Complement deficiency disease

0.400

Biomarker

GENOMICS_ENGLAND

Mannan-binding lectin-associated serine protease-2 (MASP-2) deficiency in two patients with pulmonary tuberculosis and one healthy control.

2015