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: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		0.100 CausalMutation disease CLINVAR
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.100 Biomarker disease HPO
CUI: C0221210
Disease: Congenital malrotation of intestine
Congenital malrotation of intestine 		0.100 Biomarker disease HPO
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		0.100 Biomarker disease HPO
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		0.100 Biomarker disease HPO
CUI: C0262374
Disease: Stricture of anus
Stricture of anus 		0.100 Biomarker phenotype HPO
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		0.100 Biomarker disease HPO
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		0.100 Biomarker disease HPO
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		0.100 Biomarker phenotype HPO
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		0.100 CausalMutation phenotype CLINVAR
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		0.100 Biomarker phenotype HPO
CUI: C1395852
Disease: Polydactyly preaxial type 1
Polydactyly preaxial type 1 		0.100 Biomarker disease HPO
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		0.100 Biomarker phenotype HPO
CUI: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch 		0.100 Biomarker phenotype HPO
CUI: C1849211
Disease: Generalized hirsutism
Generalized hirsutism 		0.100 Biomarker phenotype HPO
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: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		0.100 Biomarker phenotype HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group HPO
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: C4021254
Disease: Cutaneous finger syndactyly
Cutaneous finger syndactyly 		0.100 Biomarker disease HPO
CUI: C4024220
Disease: Hypomelanotic macule
Hypomelanotic macule 		0.100 CausalMutation phenotype CLINVAR
CUI: C4024737
Disease: Aplasia/Hypoplasia of the skin
Aplasia/Hypoplasia of the skin 		0.100 Biomarker phenotype HPO