DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Short long bone ×

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:	2121
Gene Symbol:	EVC

EVC

CUI:	C1854912
Disease:	Short long bone

Short long bone

0.100

GeneticVariation

CLINVAR

Entrez Id:	2121
Gene Symbol:	EVC

EVC

CUI:	C1854912
Disease:	Short long bone

Short long bone

0.100

CausalMutation

CLINVAR