DisGeNET - a database of gene-disease associations

MED12, mediator complex subunit 12, 9968

N. diseases: 340; N. variants: 21

Disease: Micrognathism ×

Source: ALL

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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0025990
Disease:	Micrognathism

Micrognathism

0.110

GeneticVariation

disease

BEFREE

Two male sibs with severe micrognathia and a missense variant in MED12.

2016

CUI:	C0025990
Disease:	Micrognathism

Micrognathism

0.110

Biomarker

disease

HPO

CUI:	C0025990
Disease:	Micrognathism

Micrognathism

0.110

GeneticVariation

disease

CLINVAR