DisGeNET - a database of gene-disease associations

Gene: COL2A1 ×

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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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

CUI:	C0432221
Disease:	Spondylometaphyseal dysplasia, 'corner fracture' type

Spondylometaphyseal dysplasia, 'corner fracture' type

0.300

GeneticVariation

ORPHANET

COL2A1-related skeletal dysplasias with predominant metaphyseal involvement.

2007