SMO, smoothened, frizzled class receptor, 6608

N. diseases: 215; N. variants: 13
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
dbSNP: rs143083812
rs143083812
Entrez Id: 6608
Gene Symbol: SMO
SMO
CUI: C0029410
Disease:
Osteoarthritis of hip 		T 0.710 GeneticVariation GWASCAT Two associations are between rare or low-frequency missense variants and hip osteoarthritis, affecting the genes SMO (rs143083812, frequency 0.11%, odds ratio (OR) = 2.8, P = 7.9 × 10<sup>-12</sup>, p.Arg173Cys) and IL11 (rs4252548, frequency 2.08%, OR = 1.30, P = 2.1 × 10<sup>-11</sup>, p.Arg112His). 30374069 2018
dbSNP: rs143083812
rs143083812
Entrez Id: 6608
Gene Symbol: SMO
SMO
CUI: C0029410
Disease:
Osteoarthritis of hip 		0.710 GeneticVariation BEFREE Two associations are between rare or low-frequency missense variants and hip osteoarthritis, affecting the genes SMO (rs143083812, frequency 0.11%, odds ratio (OR) = 2.8, P = 7.9 × 10<sup>-12</sup>, p.Arg173Cys) and IL11 (rs4252548, frequency 2.08%, OR = 1.30, P = 2.1 × 10<sup>-11</sup>, p.Arg112His). 30374069 2018
dbSNP: rs17710891
rs17710891
Entrez Id: 6608
Gene Symbol: SMO
SMO
CUI: C4721806
Disease:
Carcinoma, Basal Cell 		C 0.700 CausalMutation CLINVAR Smoothened variants explain the majority of drug resistance in basal cell carcinoma. 25759020 2015
dbSNP: rs17710891
rs17710891
Entrez Id: 6608
Gene Symbol: SMO
SMO
CUI: C4721806
Disease:
Carcinoma, Basal Cell 		C 0.700 CausalMutation CLINVAR Vismodegib. 22679179 2012
dbSNP: rs17710891
rs17710891
Entrez Id: 6608
Gene Symbol: SMO
SMO
CUI: C0025149
Disease:
Medulloblastoma 		C 0.700 CausalMutation CLINVAR Vismodegib. 22679179 2012
dbSNP: rs17710891
rs17710891
Entrez Id: 6608
Gene Symbol: SMO
SMO
CUI: C0025149
Disease:
Medulloblastoma 		C 0.700 CausalMutation CLINVAR Smoothened mutation confers resistance to a Hedgehog pathway inhibitor in medulloblastoma. 19726788 2009
dbSNP: rs17710891
rs17710891
Entrez Id: 6608
Gene Symbol: SMO
SMO
CUI: C4721806
Disease:
Carcinoma, Basal Cell 		C 0.700 CausalMutation CLINVAR Smoothened mutation confers resistance to a Hedgehog pathway inhibitor in medulloblastoma. 19726788 2009
dbSNP: rs121918347
rs121918347
Entrez Id: 6608
Gene Symbol: SMO
SMO
CUI: C3838465
Disease:
BASAL CELL CARCINOMA, SOMATIC 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121918347
rs121918347
Entrez Id: 6608
Gene Symbol: SMO
SMO
CUI: C4721806
Disease:
Carcinoma, Basal Cell 		0.700 GeneticVariation UNIPROT
dbSNP: rs121918348
rs121918348
Entrez Id: 6608
Gene Symbol: SMO
SMO
CUI: C3838465
Disease:
BASAL CELL CARCINOMA, SOMATIC 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121918348
rs121918348
Entrez Id: 6608
Gene Symbol: SMO
SMO
CUI: C4721806
Disease:
Carcinoma, Basal Cell 		0.700 GeneticVariation UNIPROT
dbSNP: rs879255280
rs879255280
Entrez Id: 6608
Gene Symbol: SMO
SMO
CUI: C0018552
Disease:
Hamartoma 		T 0.700 CausalMutation CLINVAR
dbSNP: rs879255280
rs879255280
Entrez Id: 6608
Gene Symbol: SMO
SMO
CUI: C4721806
Disease:
Carcinoma, Basal Cell 		T 0.700 CausalMutation CLINVAR
dbSNP: rs879255280
rs879255280
Entrez Id: 6608
Gene Symbol: SMO
SMO
CUI: C0158734
Disease:
Polydactyly of toes 		T 0.700 CausalMutation CLINVAR
dbSNP: rs879255280
rs879255280
Entrez Id: 6608
Gene Symbol: SMO
SMO
CUI: C4024220
Disease:
Hypomelanotic macule 		T 0.700 CausalMutation CLINVAR
dbSNP: rs879255280
rs879255280
Entrez Id: 6608
Gene Symbol: SMO
SMO
CUI: C0162835
Disease:
Hypopigmentation disorder 		T 0.700 CausalMutation CLINVAR
dbSNP: rs879255280
rs879255280
Entrez Id: 6608
Gene Symbol: SMO
SMO
CUI: C4072904
Disease:
Secondary Caesarian section 		T 0.700 CausalMutation CLINVAR
dbSNP: rs879255280
rs879255280
Entrez Id: 6608
Gene Symbol: SMO
SMO
CUI: C0152427
Disease:
Polydactyly 		T 0.700 CausalMutation CLINVAR
dbSNP: rs879255280
rs879255280
Entrez Id: 6608
Gene Symbol: SMO
SMO
CUI: C0162834
Disease:
Hyperpigmentation 		T 0.700 CausalMutation CLINVAR
dbSNP: rs879255280
rs879255280
Entrez Id: 6608
Gene Symbol: SMO
SMO
CUI: C0549629
Disease:
Abnormal delivery 		T 0.700 CausalMutation CLINVAR
dbSNP: rs879255280
rs879255280
Entrez Id: 6608
Gene Symbol: SMO
SMO
CUI: C0030354
Disease:
Papilloma 		T 0.700 CausalMutation CLINVAR