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: C4024220
Disease: Hypomelanotic macule
Hypomelanotic macule 		phenotype Skin and Connective Tissue Diseases Finding 4 1 0.100 None 0 1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C4024737
Disease: Aplasia/Hypoplasia of the skin
Aplasia/Hypoplasia of the skin 		phenotype Finding 29 0.100 None 0
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		phenotype Pathologic Function 32 37 0.100 None 0 1
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 106 15 0.100 None 0
CUI: C4072904
Disease: Secondary Caesarian section
Secondary Caesarian section 		phenotype Finding 13 13 0.100 None 0 1
CUI: C4551936
Disease: Anal Stenosis, CTCAE
Anal Stenosis, CTCAE 		phenotype Finding 27 0.100 None 0
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		phenotype Finding 67 11 0.100 None 0
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: C4020699
Disease: Congenital dermal melanocytosis
Congenital dermal melanocytosis 		disease Congenital Abnormality 3 3 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: C0262374
Disease: Stricture of anus
Stricture of anus 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Finding 28 1 0.100 None 0
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 129 21 0.100 None 0
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 148 1 0.100 None 0
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 129 11 0.100 None 0
CUI: C0334584
Disease: Spongioblastoma
Spongioblastoma 		disease Neoplasms Neoplastic Process 8 0.300 None 1.000 1 1998 1998
CUI: C0750977
Disease: Recurrent Brain Neoplasm
Recurrent Brain Neoplasm 		disease Neoplasms; Nervous System Diseases Neoplastic Process 39 0.300 None 1.000 1 1998 1998
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: C0750974
Disease: Brain Tumor, Primary
Brain Tumor, Primary 		disease Neoplasms; Nervous System Diseases Neoplastic Process 122 8 0.300 None 1.000 1 1998 1998
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms 		group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 363 9 0.300 None 1.000 1 1998 1998
CUI: C0206663
Disease: Neuroectodermal Tumor, Primitive
Neuroectodermal Tumor, Primitive 		disease Neoplasms Neoplastic Process 184 6 0.510 None 1.000 1 1998 1998
CUI: C0750979
Disease: Primary malignant neoplasm of brain
Primary malignant neoplasm of brain 		disease Neoplasms; Nervous System Diseases Neoplastic Process 41 0.300 None 1.000 1 1998 1998
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms 		group Neoplasms; Nervous System Diseases Neoplastic Process 180 72 0.010 None 1.000 1 1998 1998
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: C0700367
Disease: Ependymoblastoma
Ependymoblastoma 		disease Neoplasms Neoplastic Process 19 0.300 None 1.000 1 1998 1998