DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Taurodontism ×

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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:	1747
Gene Symbol:	DLX3

DLX3

CUI:	C0266039
Disease:	Taurodontism

Taurodontism

0.140

CausalMutation

CLINVAR

Entrez Id:	54084
Gene Symbol:	TSPEAR

TSPEAR

CUI:	C0266039
Disease:	Taurodontism

Taurodontism

0.100

GeneticVariation

CLINVAR

Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.

27736875

2016

Entrez Id:	54082
Gene Symbol:	TSPEAR-AS1

TSPEAR-AS1

CUI:	C0266039
Disease:	Taurodontism

Taurodontism

0.100

GeneticVariation

CLINVAR

Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.

27736875

2016

Entrez Id:	2972
Gene Symbol:	BRF1

BRF1

CUI:	C0266039
Disease:	Taurodontism

Taurodontism

0.100

CausalMutation

CLINVAR

Entrez Id:	478
Gene Symbol:	ATP1A3

ATP1A3

CUI:	C0266039
Disease:	Taurodontism

Taurodontism

0.100

CausalMutation

CLINVAR