Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		catenin beta 1 0.303 0.885 1.00
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		disease 0.900 None 1.000 1 4 1999 2019
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		catenin beta 1 0.303 0.885 1.00
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		disease 0.800 None 0.979 2 9 1998 2020
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		catenin beta 1 0.303 0.885 1.00
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease 0.800 strong 0.982 2 15 1998 2020
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		catenin beta 1 0.303 0.885 1.00
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma 		disease 0.800 None 1.000 1 8 1999 2019
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		catenin beta 1 0.303 0.885 1.00
CUI: C3554449
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		disease 0.700 strong 1.000 3 21 1989 2017
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		catenin beta 1 0.303 0.885 1.00
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma 		disease 0.700 None 1.000 1 3 2004 2019
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		catenin beta 1 0.303 0.885 1.00
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		group 0.700 None 0.985 1 6 1997 2019
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		catenin beta 1 0.303 0.885 1.00
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease 0.700 None 0.983 0 3 1997 2020
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		catenin beta 1 0.303 0.885 1.00
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma 		disease 0.700 None 0.981 0 3 1999 2019
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		catenin beta 1 0.303 0.885 1.00
CUI: C4539767
Disease: EXUDATIVE VITREORETINOPATHY 7
EXUDATIVE VITREORETINOPATHY 7 		disease 0.600 strong 1.000 0 3 2017 2017
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		catenin beta 1 0.303 0.885 1.00
CUI: C0025202
Disease: melanoma
melanoma 		disease 0.500 None 0.986 9 12 1996 2020
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		catenin beta 1 0.303 0.885 1.00
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		disease 0.500 None 1.000 2 10 2001 2019
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		catenin beta 1 0.303 0.885 1.00
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		disease 0.500 None 0.976 1 1 1999 2019
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		catenin beta 1 0.303 0.885 1.00
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma 		disease 0.500 None 1.000 1 6 2005 2020
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		catenin beta 1 0.303 0.885 1.00
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		group 0.480 None 0.889 1 2 2002 2017
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		catenin beta 1 0.303 0.885 1.00
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		disease 0.440 None 1.000 1 8 2014 2018
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		catenin beta 1 0.303 0.885 1.00
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		disease 0.430 None 1.000 1 10 2001 2017
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		catenin beta 1 0.303 0.885 1.00
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm 		disease 0.410 None 1.000 1 4 2001 2016
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		catenin beta 1 0.303 0.885 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.400 None 1.000 22 3 1991 2017
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		catenin beta 1 0.303 0.885 1.00
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		disease 0.400 None 1.000 0 3 2017 2017
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		catenin beta 1 0.303 0.885 1.00
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		disease 0.200 None 1.000 1 4 2002 2019
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		catenin beta 1 0.303 0.885 1.00
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group 0.200 None 0.955 1 2 1994 2020
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		catenin beta 1 0.303 0.885 1.00
CUI: C0030521
Disease: Parathyroid Neoplasms
Parathyroid Neoplasms 		group 0.200 None 1.000 1 2 2002 2017
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		catenin beta 1 0.303 0.885 1.00
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		disease 0.200 None 0.889 1 2 2005 2020
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		catenin beta 1 0.303 0.885 1.00
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		group 0.160 None 1.000 1 3 2004 2014