DisGeNET - a database of gene-disease associations

Source: INFERRED

Disease: Kniest dysplasia ×

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:	C0265279
Disease:	Kniest dysplasia

Kniest dysplasia

0.800

GeneticVariation

CLINVAR

Novel splice (IVS18+1G>C) mutation in COL2A1 causing Kniest dysplasia.

2013

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

CUI:	C0265279
Disease:	Kniest dysplasia

Kniest dysplasia

0.800

CausalMutation

CLINVAR