SMO, smoothened, frizzled class receptor, 6608

N. diseases: 215; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0795915
Disease: Winter Shortland Temple syndrome
Winter Shortland Temple syndrome 		0.710 CausalMutation disease CLINVAR
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		0.700 CausalMutation disease CLINVAR Vismodegib. 22679179 2012
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		0.700 CausalMutation disease CLINVAR Smoothened variants explain the majority of drug resistance in basal cell carcinoma. 25759020 2015
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		0.700 CausalMutation disease CLINVAR Smoothened mutation confers resistance to a Hedgehog pathway inhibitor in medulloblastoma. 19726788 2009
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.690 CausalMutation disease CLINVAR Vismodegib. 22679179 2012
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.690 CausalMutation disease CGI
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.690 CausalMutation disease CLINVAR Smoothened mutation confers resistance to a Hedgehog pathway inhibitor in medulloblastoma. 19726788 2009
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.400 CausalMutation disease CLINVAR
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.320 CausalMutation disease CGI
CUI: C0018552
Disease: Hamartoma
Hamartoma 		0.110 CausalMutation disease CLINVAR
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		0.100 CausalMutation disease CLINVAR
CUI: C0030354
Disease: Papilloma
Papilloma 		0.100 CausalMutation disease CLINVAR
CUI: C0158734
Disease: Polydactyly of toes
Polydactyly of toes 		0.100 CausalMutation disease CLINVAR
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		0.100 CausalMutation phenotype CLINVAR
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		0.100 CausalMutation disease CLINVAR
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		0.100 CausalMutation phenotype CLINVAR
CUI: C2112942
Disease: Preaxial foot polydactyly
Preaxial foot polydactyly 		0.100 CausalMutation phenotype CLINVAR
CUI: C3278658
Disease: Linear hyperpigmentation
Linear hyperpigmentation 		0.100 CausalMutation phenotype CLINVAR
CUI: C3838465
Disease: BASAL CELL CARCINOMA, SOMATIC
BASAL CELL CARCINOMA, SOMATIC 		0.100 CausalMutation disease CLINVAR
CUI: C4020699
Disease: Congenital dermal melanocytosis
Congenital dermal melanocytosis 		0.100 CausalMutation disease CLINVAR
CUI: C4024220
Disease: Hypomelanotic macule
Hypomelanotic macule 		0.100 CausalMutation phenotype CLINVAR
CUI: C4072904
Disease: Secondary Caesarian section
Secondary Caesarian section 		0.100 CausalMutation phenotype CLINVAR
CUI: C0795915
Disease: Winter Shortland Temple syndrome
Winter Shortland Temple syndrome 		0.710 SomaticCausalMutation disease ORPHANET A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome. 27236920 2016
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		0.700 AlteredExpression disease BEFREE Expression of an activated SMO mutant in keratinocytes appears to be insufficient for the development and/or maintenance of full-blown BCCs. 12773389 2003
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.690 AlteredExpression disease BEFREE SMO and GLI3 expression were high and fully correlated in glioblastoma and medulloblastoma, although partially in neuroblastoma. 18288402 2008