DisGeNET - a database of gene-disease associations

Source: GENOMICS_ENGLAND

Disease: Hydrops Fetalis, Non-Immune ×

Gene: PMM2 ×

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

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	5373
Gene Symbol:	PMM2

PMM2

phosphomannomutase 2

0.535

0.769

1.4E-17

CUI:	C0455988
Disease:	Hydrops Fetalis, Non-Immune

Hydrops Fetalis, Non-Immune

disease

0.410

strong

1.000

0

2012

2020