DisGeNET - a database of gene-disease associations

SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR, C1840235

Source: ALL

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

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	6469
Gene Symbol:	SHH

SHH

0.720

Biomarker

disease

CTD_human

Entrez Id:	6469
Gene Symbol:	SHH

SHH

0.720

Biomarker

disease

HPO

Entrez Id:	6469
Gene Symbol:	SHH

SHH

0.720

CausalMutation

disease

CLINVAR

Entrez Id:	6496
Gene Symbol:	SIX3

SIX3

0.110

Biomarker

disease

HPO

Entrez Id:	2260
Gene Symbol:	FGFR1

FGFR1

0.100

Biomarker

disease

HPO

Entrez Id:	4838
Gene Symbol:	NODAL

NODAL

0.100

Biomarker

disease

HPO

Entrez Id:	50937
Gene Symbol:	CDON

CDON

0.100

Biomarker

disease

HPO

Entrez Id:	5727
Gene Symbol:	PTCH1

PTCH1

0.100

Biomarker

disease

HPO

Entrez Id:	2253
Gene Symbol:	FGF8

FGF8

0.100

Biomarker

disease

HPO

Entrez Id:	2121
Gene Symbol:	EVC

EVC

0.100

Biomarker

disease

HPO

Entrez Id:	28514
Gene Symbol:	DLL1

DLL1

0.100

Biomarker

disease

HPO

Entrez Id:	132884
Gene Symbol:	EVC2

EVC2

0.100

Biomarker

disease

HPO

Entrez Id:	51684
Gene Symbol:	SUFU

SUFU

0.100

Biomarker

disease

HPO

Entrez Id:	2619
Gene Symbol:	GAS1

GAS1

0.100

Biomarker

disease

HPO

Entrez Id:	29123
Gene Symbol:	ANKRD11

ANKRD11

0.100

Biomarker

disease

HPO

Entrez Id:	2736
Gene Symbol:	GLI2

GLI2

0.100

Biomarker

disease

HPO

Entrez Id:	8928
Gene Symbol:	FOXH1

FOXH1

0.100

Biomarker

disease

HPO

Entrez Id:	7050
Gene Symbol:	TGIF1

TGIF1

0.100

Biomarker

disease

HPO

Entrez Id:	6997
Gene Symbol:	TDGF1

TDGF1

0.100

Biomarker

disease

HPO

Entrez Id:	7546
Gene Symbol:	ZIC2

ZIC2

0.100

Biomarker

disease

HPO

Entrez Id:	84976
Gene Symbol:	DISP1

DISP1

0.100

Biomarker

disease

HPO

Entrez Id:	54880
Gene Symbol:	BCOR

BCOR

0.100

Biomarker

disease

HPO

Entrez Id:	6469
Gene Symbol:	SHH

SHH

0.720

GeneticVariation

disease

BEFREE

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

16722608

2006

Entrez Id:	6469
Gene Symbol:	SHH

SHH

0.720

Biomarker

disease

GENOMICS_ENGLAND

Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia.

12503095

2003

Entrez Id:	6469
Gene Symbol:	SHH

SHH

0.720

GeneticVariation

disease

BEFREE

Our results and an extensive literature review of gene mutations in patients with SMMCI showed that 27/28 of them were in HPE genes: SHH (n = 21), SIX3 (n = 3), TGIF (n = 1), GLI2 (n = 1), and PTCH (n = 1), and only one in the SALL4 gene.

17584896

2007