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: C1849211
Disease: Generalized hirsutism
Generalized hirsutism
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 113 3 0.100 None 0
CUI: C4072904
Disease: Secondary Caesarian section
Secondary Caesarian section
phenotype Finding 13 13 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: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.100 None 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding)
phenotype Finding 427 32 0.100 None 0
CUI: C4551936
Disease: Anal Stenosis, CTCAE
Anal Stenosis, CTCAE
phenotype Finding 27 0.100 None 0
Congenital ocular coloboma (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 129 21 0.100 None 0
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 106 15 0.100 None 0
CUI: C3278658
Disease: Linear hyperpigmentation
Linear hyperpigmentation
phenotype Finding 4 2 0.100 None 0 1
CUI: C4024737
Disease: Aplasia/Hypoplasia of the skin
Aplasia/Hypoplasia of the skin
phenotype Finding 29 0.100 None 0
CUI: C4021254
Disease: Cutaneous finger syndactyly
Cutaneous finger syndactyly
disease Congenital Abnormality 20 1 0.100 None 0
CUI: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch
phenotype Skin and Connective Tissue Diseases Finding 123 2 0.100 None 0
CUI: C2112942
Disease: Preaxial foot polydactyly
Preaxial foot polydactyly
phenotype Finding 10 5 0.100 None 0 1
CUI: C4020699
Disease: Congenital dermal melanocytosis
Congenital dermal melanocytosis
disease Congenital Abnormality 3 3 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: C0206663
Disease: Neuroectodermal Tumor, Primitive
Neuroectodermal Tumor, Primitive
disease Neoplasms Neoplastic Process 184 6 0.510 None 1.000 1 1998 1998
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: C0205834
Disease: Meningiomas, Multiple
Meningiomas, Multiple
disease Neoplasms; Nervous System Diseases Neoplastic Process 17 0.300 None 1.000 1 2013 2013
CUI: C0153633
Disease: Malignant neoplasm of brain
Malignant neoplasm of brain
disease Neoplasms; Nervous System Diseases Neoplastic Process 294 16 0.300 None 1.000 1 1998 1998
CUI: C0700367
Disease: Ependymoblastoma
Ependymoblastoma
disease Neoplasms Neoplastic Process 19 0.300 None 1.000 1 1998 1998
CUI: C0751303
Disease: Cerebral Convexity Meningioma
Cerebral Convexity Meningioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 12 0.300 None 1.000 1 2013 2013
CUI: C0341869
Disease: Subfertility, Female
Subfertility, Female
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 33 1 0.300 None 1.000 1 2017 2017
CUI: C0038279
Disease: Sterility, Postpartum
Sterility, Postpartum
phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 28 0.300 None 1.000 1 2017 2017
CUI: C0751304
Disease: Parasagittal Meningioma
Parasagittal Meningioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 13 0.300 None 1.000 1 2013 2013