CTNNB1, catenin beta 1, 1499

N. diseases: 1368; N. variants: 68
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: C0022548
Disease: Keloid
Keloid
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Acquired Abnormality 165 15 0.060 None 1.000 6 2007 2019
CUI: C0028259
Disease: Nodule
Nodule
phenotype Acquired Abnormality 278 19 0.050 None 1.000 5 2010 2018
CUI: C0333293
Disease: Healing ulcer
Healing ulcer
disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 43 1 0.010 None 1.000 1 2016 2016
CUI: C0334070
Disease: Maturation defect
Maturation defect
phenotype Acquired Abnormality 43 2 0.010 None < 0.001 1 2006 2006
CUI: C0376154
Disease: Skin callus
Skin callus
disease Skin and Connective Tissue Diseases Acquired Abnormality 154 0.010 None 1.000 1 2020 2020
CUI: C0740391
Disease: Middle Cerebral Artery Occlusion
Middle Cerebral Artery Occlusion
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality 626 0.010 None 1.000 1 2019 2019
CUI: C0032584
Disease: polyps
polyps
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 390 18 0.100 None 1.000 19 2001 2020
CUI: C0206740
Disease: Calcifying Odontogenic Cyst
Calcifying Odontogenic Cyst
disease Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality 15 1 0.040 None 1.000 4 1 2003 2018
CUI: C0009376
Disease: Colonic Polyps
Colonic Polyps
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 69 8 0.030 None 1.000 3 2008 2010
CUI: C0021846
Disease: Intestinal Polyps
Intestinal Polyps
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 48 1 0.030 None 1.000 3 2003 2011
CUI: C1320468
Disease: Nephrogenic rest
Nephrogenic rest
disease Anatomical Abnormality 15 0.030 None 1.000 3 2008 2015
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 112 6 0.020 None 1.000 2 2014 2018
CUI: C0019270
Disease: Hernia
Hernia
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 136 10 0.010 None 1.000 1 2013 2013
CUI: C0302142
Disease: Deformity
Deformity
group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 350 26 0.010 None 1.000 1 2016 2016
CUI: C0398368
Disease: Lymphatic Abnormalities
Lymphatic Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Anatomical Abnormality 30 6 0.010 None 1.000 1 2019 2019
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
disease Musculoskeletal Diseases Anatomical Abnormality 656 1178 0.010 None 1.000 1 2017 2017
CUI: C1260954
Disease: Morphologically altered structure
Morphologically altered structure
disease Anatomical Abnormality 46 0.010 None 1.000 1 2007 2007
CUI: C1291129
Disease: Decreased reticulin
Decreased reticulin
phenotype Anatomical Abnormality 3 0.010 None 1.000 1 2017 2017
CUI: C2919945
Disease: Cavernous Hemangioma of Brain
Cavernous Hemangioma of Brain
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Anatomical Abnormality 127 43 0.010 None 1.000 1 2016 2016
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system
disease Anatomical Abnormality 148 18 0.010 None 1.000 1 2019 2019
CUI: C0342422
Disease: Pituitary gland enlarged
Pituitary gland enlarged
disease Nervous System Diseases; Endocrine System Diseases Anatomical Abnormality 8 0.100 None 0
CUI: C4013429
Disease: Underdeveloped tragus
Underdeveloped tragus
disease Anatomical Abnormality 4 1 0.100 None 0 1
CUI: C4021095
Disease: Abnormal hypothalamus morphology
Abnormal hypothalamus morphology
disease Anatomical Abnormality 4 1 0.100 None 0
CUI: C4021664
Disease: Abnormality of the abdominal wall
Abnormality of the abdominal wall
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 17 0.100 None 0
CUI: C4021745
Disease: Abnormality of the musculature
Abnormality of the musculature
phenotype Anatomical Abnormality 24 0.100 None 0