DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: Tooth Agenesis, Familial ×

Variant: rs121913129 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121913129

MSX1

CUI:	C3489529
Disease:	Tooth Agenesis, Familial

Tooth Agenesis, Familial

0.800

GeneticVariation

UNIPROT

The role of MSX1 in human tooth agenesis.

12097313

2002

dbSNP:

rs121913129

MSX1

CUI:	C3489529
Disease:	Tooth Agenesis, Familial

Tooth Agenesis, Familial

0.800

GeneticVariation

UNIPROT

A human MSX1 homeodomain missense mutation causes selective tooth agenesis.

8696335

1996

dbSNP:

rs121913129

MSX1

CUI:	C3489529
Disease:	Tooth Agenesis, Familial

Tooth Agenesis, Familial

0.800

CausalMutation

CLINVAR