CTNNB1, catenin beta 1, 1499

N. diseases: 70; N. variants: 52
Source: CLINVAR ×
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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 237 350 0.400 None 1.000 22 3 1991 2017
CUI: C1849265
Disease: Overgrowth
Overgrowth 		phenotype Finding 81 93 0.100 None 1.000 22 1 1991 2017
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group Nervous System Diseases Disease or Syndrome 162 240 0.100 None 1.000 22 3 1991 2017
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 335 611 0.100 None 1.000 22 4 1991 2017
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 336 579 0.100 None 1.000 22 6 1991 2017
CUI: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 25 129 0.500 None 0.986 9 12 1996 2020
CUI: C3887926
Disease: CATARACT 32, MULTIPLE TYPES
CATARACT 32, MULTIPLE TYPES 		disease Disease or Syndrome 1 1 0.100 None 1.000 3 1 1989 2017
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 43 62 0.110 None 1.000 3 1 1989 2019
CUI: C1845245
Disease: Lower limb hypertonia
Lower limb hypertonia 		phenotype Finding 5 5 0.100 None 1.000 3 1 1989 2017
CUI: C0013362
Disease: Dysarthria
Dysarthria 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 34 42 0.100 None 1.000 3 1 1989 2017
CUI: C0023882
Disease: Little's Disease
Little's Disease 		disease Nervous System Diseases Disease or Syndrome 6 6 0.100 None 1.000 3 1 1989 2017
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		disease Nervous System Diseases Disease or Syndrome 15 19 0.110 None 1.000 3 1 1989 2017
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		disease Neoplasms Neoplastic Process 18 80 0.800 None 0.979 2 9 1998 2020
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		disease Neoplasms Neoplastic Process 37 211 0.500 None 1.000 2 10 2001 2019
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 18 114 0.120 None 1.000 1 4 2014 2016
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		disease Neoplasms Neoplastic Process 27 179 0.200 None 0.889 1 2 2005 2020
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 26 152 0.100 None 1.000 1 12 2016 2016
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 30 188 0.440 None 1.000 1 8 2014 2018
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 39 436 0.900 None 1.000 1 4 1999 2019
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 7 34 0.500 None 1.000 1 6 2005 2020
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma 		disease Neoplasms Neoplastic Process 2 14 0.800 None 1.000 1 8 1999 2019
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2 2 0.500 None 0.976 1 1 1999 2019
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 26 141 0.120 None 0.667 1 8 2012 2016
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 16 102 0.200 None 1.000 1 4 2002 2019
CUI: C0030521
Disease: Parathyroid Neoplasms
Parathyroid Neoplasms 		group Neoplasms; Endocrine System Diseases Neoplastic Process 1 2 0.200 None 1.000 1 2 2002 2017