DisGeNET - a database of gene-disease associations

Gene: COL11A2 ×

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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:	1302
Gene Symbol:	COL11A2

COL11A2

CUI:	C0878659
Disease:	Disproportionate short stature

Disproportionate short stature

0.300

Biomarker

GENOMICS_ENGLAND

A stop codon mutation in COL11A2 induces exon skipping and leads to non-ocular Stickler syndrome.

2004