DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Sensorineural Hearing Loss (disorder) ×

Gene: COL2A1 ×

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:	1280
Gene Symbol:	COL2A1

COL2A1

CUI:	C0018784
Disease:	Sensorineural Hearing Loss (disorder)

Sensorineural Hearing Loss (disorder)

0.420

AlteredExpression

LHGDN

Czech dysplasia: report of a large family and further delineation of the phenotype.

18553548

2008

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

CUI:	C0018784
Disease:	Sensorineural Hearing Loss (disorder)

Sensorineural Hearing Loss (disorder)

0.420

Biomarker

CTD_human

A type II collagen mutation also results in oto-spondylo-megaepiphyseal dysplasia.

16189708

2005

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

CUI:	C0018784
Disease:	Sensorineural Hearing Loss (disorder)

Sensorineural Hearing Loss (disorder)

0.420

GeneticVariation

BEFREE

Childhood-onset osteoarthritis, tall stature, and sensorineural hearing loss associated with Arg75-Cys mutation in procollagen type II gene (COL2A1).

15593085

2004

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

CUI:	C0018784
Disease:	Sensorineural Hearing Loss (disorder)

Sensorineural Hearing Loss (disorder)

0.420

Biomarker

HPO