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: C3839205
Disease: Signet-ring stromal tumor
Signet-ring stromal tumor 		disease Neoplastic Process 2 0.010 None 1.000 1 2020 2020
CUI: C4054287
Disease: Ovarian Microcystic Stromal Tumor
Ovarian Microcystic Stromal Tumor 		disease Neoplastic Process 2 0.010 None 1.000 1 2015 2015
CUI: C2675440
Disease: Desmoid Tumor Caused By Somatic Mutation
Desmoid Tumor Caused By Somatic Mutation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome 2 1 0.100 None 0 1
CUI: C4021250
Disease: Intracranial cystic lesion
Intracranial cystic lesion 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Finding 2 0.100 None 0
CUI: C4021873
Disease: Abnormality of the frontal bone
Abnormality of the frontal bone 		phenotype Anatomical Abnormality 2 0.100 None 0
CUI: C4023637
Disease: Abnormality of the nasal bone
Abnormality of the nasal bone 		phenotype Anatomical Abnormality 2 0.100 None 0
CUI: C4476564
Disease: Abnormal brain lactate level by MRS
Abnormal brain lactate level by MRS 		phenotype Finding 2 1 0.100 None 0 1
CUI: C0028882
Disease: Odontoma
Odontoma 		disease Neoplasms Neoplastic Process 3 0.010 None 1.000 1 2019 2019
CUI: C0232347
Disease: No-Reflow Phenomenon
No-Reflow Phenomenon 		phenotype Pathological Conditions, Signs and Symptoms Finding 3 0.300 None 1.000 1 2007 2007
CUI: C0346056
Disease: Neuromuscular hamartoma
Neuromuscular hamartoma 		disease Neoplasms Disease or Syndrome 3 2 0.010 None 1.000 1 2 2016 2016
CUI: C0457529
Disease: Plexiform ameloblastoma
Plexiform ameloblastoma 		disease Neoplasms Neoplastic Process 3 0.010 None 1.000 1 2006 2006
CUI: C1291129
Disease: Decreased reticulin
Decreased reticulin 		phenotype Anatomical Abnormality 3 0.010 None 1.000 1 2017 2017
CUI: C1708187
Disease: Gardner Fibroma
Gardner Fibroma 		disease Neoplasms Neoplastic Process 3 0.010 None 1.000 1 2015 2015
CUI: C2713615
Disease: Slow-Flow Phenomenon
Slow-Flow Phenomenon 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 3 0.300 None 1.000 1 2007 2007
CUI: C4551836
Disease: Perilobar nephroblastomatosis
Perilobar nephroblastomatosis 		disease Neoplastic Process 3 0.010 None 1.000 1 2008 2008
CUI: C0334401
Disease: Malignant Granulosa Cell Tumor
Malignant Granulosa Cell Tumor 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 3 0.200 None 0
CUI: C0267770
Disease: Retractile Mesenteritis
Retractile Mesenteritis 		disease Digestive System Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 4 0.010 None 1.000 1 2018 2018
CUI: C0278535
Disease: Rectal cancer stage I
Rectal cancer stage I 		disease Neoplastic Process 4 0.010 None 1.000 1 2016 2016
CUI: C1096654
Disease: Cardiac fibroma
Cardiac fibroma 		disease Neoplasms; Cardiovascular Diseases Neoplastic Process 4 0.010 None < 0.001 1 2008 2008
CUI: C1403996
Disease: Squamous cell metaplasia
Squamous cell metaplasia 		disease Disease or Syndrome 4 0.010 None 1.000 1 2016 2016
CUI: C1519719
Disease: Type I Endometrial Adenocarcinoma
Type I Endometrial Adenocarcinoma 		disease Neoplastic Process 4 0.010 None 1.000 1 2008 2008
CUI: C2987188
Disease: Pancreatic Intraductal Neoplasms
Pancreatic Intraductal Neoplasms 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 4 0.010 None 1.000 1 2011 2011
CUI: C4520718
Disease: Stage I Rectal Cancer AJCC v6 and v7
Stage I Rectal Cancer AJCC v6 and v7 		disease Neoplastic Process 4 0.010 None 1.000 1 2016 2016
CUI: C4525133
Disease: Stage I Rectal Cancer AJCC v8
Stage I Rectal Cancer AJCC v8 		disease Neoplastic Process 4 0.010 None 1.000 1 2016 2016
CUI: C0154828
Disease: Traction detachment of retina
Traction detachment of retina 		disease Eye Diseases Pathologic Function 4 1 0.100 None 0 1