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: C4476564
Disease: Abnormal brain lactate level by MRS
Abnormal brain lactate level by MRS
phenotype 0.100 None 0 1
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.303 0.885 1.00
CUI: C4023443
Disease: Absent antitragus
Absent antitragus
disease 0.100 None 0 1
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.303 0.885 1.00
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype 0.100 None 0 1
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: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas
disease 0.120 None 1.000 1 4 2014 2016
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.303 0.885 1.00
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate
disease 0.100 None 1.000 1 10 2016 2016
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: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype 0.100 None 0 1
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.303 0.885 1.00
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate
disease 0.110 None 1.000 0 1 2017 2017
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.303 0.885 1.00
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve
disease 0.100 None 0 1
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: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease 0.100 None 0 1
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.303 0.885 1.00
CUI: C3887926
Disease: CATARACT 32, MULTIPLE TYPES
CATARACT 32, MULTIPLE TYPES
disease 0.100 None 1.000 3 1 1989 2017
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.303 0.885 1.00
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
disease 0.110 None 1.000 3 1 1989 2017
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: 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: 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: 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: C1857539
Disease: Deep palmar crease
Deep palmar crease
phenotype 0.100 None 0 1
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.303 0.885 1.00
Delayed speech and language development
phenotype 0.100 None 0 1
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.303 0.885 1.00
Desmoid Tumor Caused By Somatic Mutation
disease 0.100 None 0 1
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.303 0.885 1.00
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.100 None 1.000 3 1 1989 2017
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.303 0.885 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 22 4 1991 2017
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.303 0.885 1.00
CUI: C0014170
Disease: Endometrial Neoplasms
Endometrial Neoplasms
group 0.120 None 1.000 1 3 2005 2014
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