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: C0549629
Disease: Abnormal delivery
Abnormal delivery 		phenotype Pathologic Function 32 37 0.100 None 0 1
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia 		disease Neoplasms Neoplastic Process 651 21 0.300 None 1.000 1 2013 2013
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		group Neoplasms Neoplastic Process 2235 168 0.010 None 1.000 1 2012 2012
CUI: C0278875
Disease: Adult Craniopharyngioma
Adult Craniopharyngioma 		disease Neoplasms Neoplastic Process 38 6 0.010 None 1.000 1 2006 2006
CUI: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
Adult Diffuse Large B-Cell Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 504 46 0.010 None 1.000 1 2013 2013
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		disease Neoplasms Neoplastic Process 2528 98 0.010 None 1.000 1 2008 2008
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma 		disease Neoplasms Neoplastic Process 762 24 0.090 None 1.000 9 1 2000 2020
CUI: C0278877
Disease: Adult Meningioma
Adult Meningioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 405 30 0.010 None 1.000 1 2016 2016
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 509 12 0.020 None 1.000 2 2000 2011
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 615 45 0.100 None 0
CUI: C0002448
Disease: Ameloblastoma
Ameloblastoma 		disease Neoplasms Neoplastic Process 174 4 0.330 None 1.000 4 2014 2019
CUI: C4551936
Disease: Anal Stenosis, CTCAE
Anal Stenosis, CTCAE 		phenotype Finding 27 0.100 None 0
CUI: C1527197
Disease: Angioblastic Meningioma
Angioblastic Meningioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 12 0.300 None 1.000 1 2013 2013
CUI: C0334608
Disease: Angiomatous Meningioma
Angiomatous Meningioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 18 0.300 None 1.000 1 2013 2013
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases Disease or Syndrome 1410 80 0.010 None 1.000 1 2011 2011
CUI: C4024737
Disease: Aplasia/Hypoplasia of the skin
Aplasia/Hypoplasia of the skin 		phenotype Finding 29 0.100 None 0
CUI: C0751676
Disease: Basal Cell Cancer
Basal Cell Cancer 		disease Neoplasms Neoplastic Process 64 109 0.020 None 1.000 2 2008 2018
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		disease Neoplasms Neoplastic Process 108 109 0.320 None 1.000 2 2002 2008
CUI: C3838465
Disease: BASAL CELL CARCINOMA, SOMATIC
BASAL CELL CARCINOMA, SOMATIC 		disease Neoplastic Process 5 7 0.100 None 0 2
CUI: C1862314
Disease: Basal cell nevus
Basal cell nevus 		disease Neoplasms Neoplastic Process 2 1 0.010 None < 0.001 1 2007 2007
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Neoplastic Process 74 124 0.040 None 1.000 4 2008 2020
CUI: C0281784
Disease: Benign Meningioma
Benign Meningioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 35 0.300 None 1.000 1 2013 2013
CUI: C0496899
Disease: Benign neoplasm of brain, unspecified
Benign neoplasm of brain, unspecified 		disease Neoplasms; Nervous System Diseases Neoplastic Process 41 0.300 None 1.000 1 1998 1998
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 106 15 0.100 None 0
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		group Neoplasms; Nervous System Diseases Neoplastic Process 1018 204 0.300 None 1.000 1 1998 1998