DisGeNET - a database of gene-disease associations

Source: GENOMICS_ENGLAND

Disease: Disorder of eye ×

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:	C0015397
Disease:	Disorder of eye

Disorder of eye

0.300

Biomarker

GENOMICS_ENGLAND

Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene.

2008

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

CUI:	C0015397
Disease:	Disorder of eye

Disorder of eye

0.300

Biomarker

GENOMICS_ENGLAND

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

CUI:	C0015397
Disease:	Disorder of eye

Disorder of eye

0.300

Biomarker

GENOMICS_ENGLAND