DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Abnormality of dental enamel ×

The Variant filter does not apply in GDA tabs

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:	C4021800
Disease:	Abnormality of dental enamel

Abnormality of dental enamel

0.100

CausalMutation

CLINVAR

Entrez Id:	775
Gene Symbol:	CACNA1C

CACNA1C

CUI:	C4021800
Disease:	Abnormality of dental enamel

Abnormality of dental enamel

0.100

GeneticVariation

CLINVAR

Entrez Id:	9927
Gene Symbol:	MFN2

MFN2

CUI:	C4021800
Disease:	Abnormality of dental enamel

Abnormality of dental enamel

0.100

CausalMutation

CLINVAR