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: C0795915
Disease: Winter Shortland Temple syndrome
Winter Shortland Temple syndrome 		0.710 Biomarker disease CTD_human
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		0.700 GeneticVariation disease UNIPROT
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		0.700 Biomarker disease HPO
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.690 CausalMutation disease CGI
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.690 Biomarker disease MGD
CUI: C0206663
Disease: Neuroectodermal Tumor, Primitive
Neuroectodermal Tumor, Primitive 		0.510 Biomarker disease MGD
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: C0029607
Disease: Other emphysema
Other emphysema 		0.200 Biomarker phenotype MGD
CUI: C1334410
Disease: Localized Primitive Neuroectodermal Tumor
Localized Primitive Neuroectodermal Tumor 		0.200 Biomarker disease MGD
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.110 Biomarker disease HPO
CUI: C0018552
Disease: Hamartoma
Hamartoma 		0.110 CausalMutation disease CLINVAR
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		0.100 Biomarker disease HPO
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		0.100 Biomarker disease HPO
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 Biomarker phenotype HPO
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		0.100 CausalMutation disease CLINVAR
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.100 Biomarker disease HPO
CUI: C0030354
Disease: Papilloma
Papilloma 		0.100 CausalMutation disease CLINVAR
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities 		0.100 Biomarker group HPO
CUI: C0039075
Disease: Syndactyly
Syndactyly 		0.100 Biomarker disease HPO
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc 		0.100 Biomarker disease HPO
CUI: C0158734
Disease: Polydactyly of toes
Polydactyly of toes 		0.100 Biomarker disease HPO
CUI: C0158734
Disease: Polydactyly of toes
Polydactyly of toes 		0.100 CausalMutation disease CLINVAR
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		0.100 CausalMutation phenotype CLINVAR