DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Limb defects ×

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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:	860
Gene Symbol:	RUNX2

RUNX2

CUI:	C0740404
Disease:	Limb defects

Limb defects

0.010

AlteredExpression

BEFREE

The early onset of Runx2 expression caused limb defects through the Fgfr1-3 regulation by Runx2.

2018