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: C3278658
Disease: Linear hyperpigmentation
Linear hyperpigmentation
phenotype Finding 4 2 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: C4021254
Disease: Cutaneous finger syndactyly
Cutaneous finger syndactyly
disease Congenital Abnormality 20 1 0.100 None 0
CUI: C0426891
Disease: Broad thumbs
Broad thumbs
phenotype Finding 67 11 0.100 None 0
CUI: C2112942
Disease: Preaxial foot polydactyly
Preaxial foot polydactyly
phenotype Finding 10 5 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: C4024737
Disease: Aplasia/Hypoplasia of the skin
Aplasia/Hypoplasia of the skin
phenotype Finding 29 0.100 None 0
CUI: C4072904
Disease: Secondary Caesarian section
Secondary Caesarian section
phenotype Finding 13 13 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: 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: C3838465
Disease: BASAL CELL CARCINOMA, SOMATIC
BASAL CELL CARCINOMA, SOMATIC
disease Neoplastic Process 5 7 0.100 None 0 2
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery
phenotype Pathologic Function 32 37 0.100 None 0 1
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: C1862314
Disease: Basal cell nevus
Basal cell nevus
disease Neoplasms Neoplastic Process 2 1 0.010 None < 0.001 1 2007 2007
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 820 55 0.010 None < 0.001 1 2013 2013
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.040 None 0.750 4 2012 2014
Experimental Organism Basal Cell Carcinoma
phenotype Neoplasms Neoplastic Process 437 63 0.100 None 0.900 10 2 2005 2019
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: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 1.000 15 1998 2020
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
disease Neoplasms Neoplastic Process 862 115 0.690 None 1.000 11 2 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: 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