DisGeNET - a database of gene-disease associations

SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR, C1840235

Variant: rs104894049 ×

Source: ALL

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs104894049

SHH

0.810

GeneticVariation

BEFREE

Missense mutation in the SHH gene (I111F) at 7q36 may be associated with SMMCI.

16722608

2006

dbSNP:

rs104894049

SHH

0.810

GeneticVariation

UNIPROT

Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog.

15103725

2004

dbSNP:

rs104894049

SHH

0.810

GeneticVariation

UNIPROT

SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature.

11471164

2001

dbSNP:

rs104894049

SHH

0.810

CausalMutation

CLINVAR