DisGeNET - a database of gene-disease associations

Source: INFERRED

Disease: Dwarfism ×

Gene: BRCA2 ×

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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	675
Gene Symbol:	BRCA2

BRCA2

CUI:	C0013336
Disease:	Dwarfism

Dwarfism

0.110

CausalMutation

CLINVAR

Genomic analysis of primordial dwarfism reveals novel disease genes.

2014

Entrez Id:	675
Gene Symbol:	BRCA2

BRCA2

CUI:	C0013336
Disease:	Dwarfism

Dwarfism

0.110

Biomarker

HPO