DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Short stature ×

Gene: COL7A1 ×

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:	1294
Gene Symbol:	COL7A1

COL7A1

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

GeneticVariation

CLINVAR

Entrez Id:	1294
Gene Symbol:	COL7A1

COL7A1

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

CausalMutation

CLINVAR