DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Pseudoachondroplasia ×

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:	1311
Gene Symbol:	COMP

COMP

CUI:	C0410538
Disease:	Pseudoachondroplasia

Pseudoachondroplasia

1.000

CausalMutation

CLINVAR

Entrez Id:	1311
Gene Symbol:	COMP

COMP

CUI:	C0410538
Disease:	Pseudoachondroplasia

Pseudoachondroplasia

1.000

GeneticVariation

CLINVAR