Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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