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