×
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
×
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
GeneticVariation
disease
UNIPROT
Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog.
15103725
2004
×
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
Biomarker
disease
GENOMICS_ENGLAND
Previously undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial variability.
12567406
2003
×
Entrez Id:
6469
Gene Symbol:
SHH
SHH
0.720
GeneticVariation
disease
UNIPROT
SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature.
11471164
2001
×
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
GeneticVariation
disease
BEFREE
We studied two genes, Sonic Hedgehog (SHH) and SIX3 , in which mutations have been reported in patients showing SMMCI as part of the HPE spectrum.
11471164
2001
×
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