rs104894049, SHH

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
CUI: C1840235
Disease: SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
0.810 GeneticVariation BEFREE Missense mutation in the SHH gene (I111F) at 7q36 may be associated with SMMCI. 16722608 2006
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
CUI: C1840235
Disease: SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
0.810 GeneticVariation UNIPROT Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog. 15103725 2004
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
CUI: C1840235
Disease: SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
0.810 GeneticVariation UNIPROT SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature. 11471164 2001
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
CUI: C1840235
Disease: SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
0.810 CausalMutation CLINVAR
Carcinoma, Basal Cell
CUI: C4721806
Disease: Carcinoma, Basal Cell
0.010 GeneticVariation BEFREE Other genotypes, such as the TT in SHH rs104894049 331 A/T and the GG in SMO rs41303402 385 G/A also statistically raised the risk of BCC, but these associations were weaker. 26590974 2016
Experimental Organism Basal Cell Carcinoma
CUI: C3811653
Disease: Experimental Organism Basal Cell Carcinoma
0.010 GeneticVariation BEFREE Other genotypes, such as the TT in SHH rs104894049 331 A/T and the GG in SMO rs41303402 385 G/A also statistically raised the risk of BCC, but these associations were weaker. 26590974 2016