DisGeNET - a database of gene-disease associations

Source: GENOMICS_ENGLAND

Disease: Spondyloepimetaphyseal Dysplasia, Aggrecan Type ×

Gene: ACAN ×

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:	C2748544
Disease:	Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Spondyloepimetaphyseal Dysplasia, Aggrecan Type

0.700

Biomarker

GENOMICS_ENGLAND

Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations.

27870580

2017

Entrez Id:	176
Gene Symbol:	ACAN

ACAN

CUI:	C2748544
Disease:	Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Spondyloepimetaphyseal Dysplasia, Aggrecan Type

0.700

Biomarker

GENOMICS_ENGLAND

Entrez Id:	176
Gene Symbol:	ACAN

ACAN

CUI:	C2748544
Disease:	Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Spondyloepimetaphyseal Dysplasia, Aggrecan Type

0.700

Biomarker

GENOMICS_ENGLAND