DisGeNET - a database of gene-disease associations

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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:	9968
Gene Symbol:	MED12

MED12

CUI:	C3888239
Disease:	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1

HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1

0.300

Biomarker

GENOMICS_ENGLAND

Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations.

2014