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: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell
disease Neoplasms Neoplastic Process 557 91 0.700 None 0.955 22 6 1998 2019
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
disease Neoplasms Neoplastic Process 862 115 0.690 None 1.000 11 2 2000 2020
Experimental Organism Basal Cell Carcinoma
phenotype Neoplasms Neoplastic Process 437 63 0.100 None 0.900 10 2 2005 2019
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: C0014868
Disease: Esophagitis
Esophagitis
disease Digestive System Diseases Disease or Syndrome 105 7 0.010 None 1.000 1 2 2016 2016
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: C0266525
Disease: Irido-corneal dysgenesis
Irido-corneal dysgenesis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 22 2 0.010 None 1.000 1 2 2019 2019
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: C3838465
Disease: BASAL CELL CARCINOMA, SOMATIC
BASAL CELL CARCINOMA, SOMATIC
disease Neoplastic Process 5 7 0.100 None 0 2
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma
disease Neoplasms Neoplastic Process 771 25 0.090 None 1.000 9 1 2000 2020
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma
disease Neoplasms Neoplastic Process 762 24 0.090 None 1.000 9 1 2000 2020
CUI: C0025286
Disease: Meningioma
Meningioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 634 43 0.390 None 1.000 9 1 2013 2019
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: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.030 None 1.000 3 1 2015 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: C0018552
Disease: Hamartoma
Hamartoma
disease Neoplasms Neoplastic Process 91 8 0.110 None 1.000 1 1 2017 2017
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip
disease Musculoskeletal Diseases Disease or Syndrome 164 121 0.410 None 1.000 1 1 2018 2018
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 188 43 0.400 strong 1.000 1 1 2016 2016
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: C0457521
Disease: Unicystic ameloblastoma
Unicystic ameloblastoma
disease Neoplasms Neoplastic Process 9 4 0.010 None 1.000 1 1 2019 2019
CUI: C3278658
Disease: Linear hyperpigmentation
Linear hyperpigmentation
phenotype Finding 4 2 0.100 None 0 1
CUI: C4072904
Disease: Secondary Caesarian section
Secondary Caesarian section
phenotype Finding 13 13 0.100 None 0 1
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis
disease Skin and Connective Tissue Diseases Disease or Syndrome 92 27 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: C4020699
Disease: Congenital dermal melanocytosis
Congenital dermal melanocytosis
disease Congenital Abnormality 3 3 0.100 None 0 1