SMO, smoothened, frizzled class receptor, 6608

N. diseases: 215; N. variants: 13
Disease: Winter Shortland Temple syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879255280
rs879255280
Entrez Id: 6608
Gene Symbol: SMO
SMO
CUI: C0795915
Disease:
Winter Shortland Temple syndrome 		0.810 GeneticVariation BEFREE Medulloblastoma in a Patient with Curry-Jones Syndrome with a mosaic variant, c.1234C > T (p.Leu412Phe), in SMO. 31825089 2020
dbSNP: rs879255280
rs879255280
Entrez Id: 6608
Gene Symbol: SMO
SMO
CUI: C0795915
Disease:
Winter Shortland Temple syndrome 		0.810 GeneticVariation UNIPROT A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome. 27236920 2016
dbSNP: rs879255280
rs879255280
Entrez Id: 6608
Gene Symbol: SMO
SMO
CUI: C0795915
Disease:
Winter Shortland Temple syndrome 		0.810 GeneticVariation UNIPROT Identification of recurrent SMO and BRAF mutations in ameloblastomas. 24859340 2014
dbSNP: rs879255280
rs879255280
Entrez Id: 6608
Gene Symbol: SMO
SMO
CUI: C0795915
Disease:
Winter Shortland Temple syndrome 		T 0.810 CausalMutation CLINVAR