SHH, sonic hedgehog signaling molecule, 6469

N. diseases: 171; N. variants: 7
Disease: SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1840235
Disease: SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR 		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
CUI: C1840235
Disease: SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR 		0.720 GeneticVariation disease BEFREE Missense mutation in the SHH gene (I111F) at 7q36 may be associated with SMMCI. 16722608 2006