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: 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: C0025149
Disease: Medulloblastoma
Medulloblastoma 		disease Neoplasms Neoplastic Process 18 80 0.800 None 0.979 2 9 1998 2020
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 21 142 0.800 strong 0.982 2 15 1998 2020
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma 		disease Neoplasms Neoplastic Process 2 14 0.800 None 1.000 1 8 1999 2019
CUI: C3554449
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		disease Disease or Syndrome 1 21 0.700 strong 1.000 3 21 1989 2017
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma 		disease Neoplasms Neoplastic Process 2 4 0.700 None 1.000 1 3 2004 2019
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 31 216 0.700 None 0.985 1 6 1997 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 43 100 0.700 None 0.983 0 3 1997 2020
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma 		disease Neoplasms Neoplastic Process 3 5 0.700 None 0.981 0 3 1999 2019
CUI: C4539767
Disease: EXUDATIVE VITREORETINOPATHY 7
EXUDATIVE VITREORETINOPATHY 7 		disease Disease or Syndrome 1 3 0.600 strong 1.000 0 3 2017 2017
CUI: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 25 129 0.500 None 0.986 9 12 1996 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: 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: 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: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		group Neoplasms; Nervous System Diseases Neoplastic Process 13 118 0.480 None 0.889 1 2 2002 2017
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: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 38 153 0.430 None 1.000 1 10 2001 2017
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 16 69 0.410 None 1.000 1 4 2001 2016
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: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 4 10 0.400 None 1.000 0 3 2017 2017
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: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 26 98 0.200 None 0.955 1 2 1994 2020
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
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: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 13 47 0.160 None 1.000 1 3 2004 2014