DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Brachydactyly ×

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:	176
Gene Symbol:	ACAN

ACAN

CUI:	C0221357
Disease:	Brachydactyly

Brachydactyly

0.110

GeneticVariation

BEFREE

Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature.

2018

Entrez Id:	176
Gene Symbol:	ACAN

ACAN

CUI:	C0221357
Disease:	Brachydactyly

Brachydactyly

0.110

Biomarker

HPO