Source: ALL
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 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 GeneticVariation disease UNIPROT Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog. 15103725 2004
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