SMO, smoothened, frizzled class receptor, 6608

N. diseases: 215; N. variants: 13
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0795915
Disease: Winter Shortland Temple syndrome
Winter Shortland Temple syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 1 1 0.710 None 1.000 3 1 2014 2020
CUI: C0024954
Disease: Maxillary Neoplasms
Maxillary Neoplasms 		group Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Neoplastic Process 1 0.300 None 1.000 1 2014 2014
CUI: C0344535
Disease: Congenital corneal opacity
Congenital corneal opacity 		disease Eye Diseases Congenital Abnormality 1 2 0.010 None 1.000 1 2 2019 2019
CUI: C4014479
Disease: CULLER-JONES SYNDROME
CULLER-JONES SYNDROME 		disease Disease or Syndrome 2 11 0.020 None 1.000 2 1 2017 2020
CUI: C1862314
Disease: Basal cell nevus
Basal cell nevus 		disease Neoplasms Neoplastic Process 2 1 0.010 None < 0.001 1 2007 2007
CUI: C0549307
Disease: Morning glory syndrome
Morning glory syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases Disease or Syndrome 3 2 0.010 None 1.000 1 2 2019 2019
CUI: C4020699
Disease: Congenital dermal melanocytosis
Congenital dermal melanocytosis 		disease Congenital Abnormality 3 3 0.100 None 0 1
CUI: C1334410
Disease: Localized Primitive Neuroectodermal Tumor
Localized Primitive Neuroectodermal Tumor 		disease Neoplasms Neoplastic Process 4 0.200 None 0
CUI: C3278658
Disease: Linear hyperpigmentation
Linear hyperpigmentation 		phenotype Finding 4 2 0.100 None 0 1
CUI: C4024220
Disease: Hypomelanotic macule
Hypomelanotic macule 		phenotype Skin and Connective Tissue Diseases Finding 4 1 0.100 None 0 1
CUI: C3838465
Disease: BASAL CELL CARCINOMA, SOMATIC
BASAL CELL CARCINOMA, SOMATIC 		disease Neoplastic Process 5 7 0.100 None 0 2
CUI: C0016325
Disease: Fluoride Poisoning
Fluoride Poisoning 		disease Chemically-Induced Disorders Injury or Poisoning 6 0.200 None 1.000 1 2014 2014
CUI: C1513734
Disease: Solid/Multicystic Ameloblastoma
Solid/Multicystic Ameloblastoma 		disease Neoplasms Neoplastic Process 6 10 0.010 None 1.000 1 1 2019 2019
CUI: C0205766
Disease: Myxofibroma
Myxofibroma 		disease Neoplasms Neoplastic Process 7 0.010 None 1.000 1 2019 2019
CUI: C0334584
Disease: Spongioblastoma
Spongioblastoma 		disease Neoplasms Neoplastic Process 8 0.300 None 1.000 1 1998 1998
CUI: C3273016
Disease: High Grade Liver Dysplastic Nodule
High Grade Liver Dysplastic Nodule 		disease Neoplastic Process 8 0.010 None 1.000 1 2018 2018
CUI: C0022360
Disease: Jaw Abnormalities
Jaw Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 9 0.300 None 1.000 1 2006 2006
CUI: C0457521
Disease: Unicystic ameloblastoma
Unicystic ameloblastoma 		disease Neoplasms Neoplastic Process 9 4 0.010 None 1.000 1 1 2019 2019
CUI: C0751675
Disease: Cerebral Primitive Neuroectodermal Tumor
Cerebral Primitive Neuroectodermal Tumor 		disease Neoplasms Neoplastic Process 9 0.300 None 1.000 1 1998 1998
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 10 39 0.010 None 1.000 1 2018 2018
CUI: C2112942
Disease: Preaxial foot polydactyly
Preaxial foot polydactyly 		phenotype Finding 10 5 0.100 None 0 1
CUI: C1335107
Disease: Olfactory Groove Meningioma
Olfactory Groove Meningioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 12 2 0.310 None 1.000 2 2 2013 2017
CUI: C0334609
Disease: Hemangioblastic Meningioma
Hemangioblastic Meningioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 12 0.300 None 1.000 1 2013 2013
CUI: C0334610
Disease: Hemangiopericytic Meningioma
Hemangiopericytic Meningioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 12 0.300 None 1.000 1 2013 2013
CUI: C0457190
Disease: Xanthomatous Meningioma
Xanthomatous Meningioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 12 0.300 None 1.000 1 2013 2013