DisGeNET - a database of gene-disease associations

Disorder of eye, C0015397

Gene: COL2A1 ×

Source: CURATED ×

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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

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

0.300

Biomarker

group

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

0.300

Biomarker

group

GENOMICS_ENGLAND