CTNNB1, catenin beta 1, 1499

N. diseases: 1368; N. variants: 68
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.100 Biomarker phenotype HPO
CUI: C1879526
Disease: Aberrant Crypt Foci
Aberrant Crypt Foci 		0.300 Biomarker phenotype CTD_human Thus, beta-catenin mutations may have more importance in the genesis of adenomas than ACF or adenocarcinomas in rat colon carcinogens by PhIP. 10965019 2000
CUI: C1879526
Disease: Aberrant Crypt Foci
Aberrant Crypt Foci 		0.300 Biomarker phenotype CTD_human Seven dysplastic ACF harbored beta-catenin mutations at codon 32, 34, or 36 in exon 2, and one had an Apc mutation at the boundary of intron 10 and exon 11. 14507667 2003
CUI: C1879526
Disease: Aberrant Crypt Foci
Aberrant Crypt Foci 		0.300 Biomarker phenotype CTD_human Mice expressing an N-terminally truncated, oncogenic version of beta-catenin (A 33(delta N beta-cat) mutant mice) developed colonic aberrant crypt foci (ACF) spontaneously, but PhIP treatment increased the incidence and number of ACF per colon. 12351151 2002
CUI: C4476564
Disease: Abnormal brain lactate level by MRS
Abnormal brain lactate level by MRS 		0.100 GeneticVariation phenotype CLINVAR
CUI: C4021095
Disease: Abnormal hypothalamus morphology
Abnormal hypothalamus morphology 		0.100 Biomarker disease HPO
CUI: C4476625
Disease: Abnormal temper tantrums
Abnormal temper tantrums 		0.100 Biomarker disease HPO
CUI: C0854021
Disease: Abnormal visual field test
Abnormal visual field test 		0.100 Biomarker phenotype HPO
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		0.100 Biomarker phenotype HPO
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		0.100 Biomarker phenotype HPO
CUI: C4021664
Disease: Abnormality of the abdominal wall
Abnormality of the abdominal wall 		0.100 Biomarker disease HPO
CUI: C4021873
Disease: Abnormality of the frontal bone
Abnormality of the frontal bone 		0.100 Biomarker phenotype HPO
CUI: C4021745
Disease: Abnormality of the musculature
Abnormality of the musculature 		0.100 Biomarker phenotype HPO
CUI: C4023637
Disease: Abnormality of the nasal bone
Abnormality of the nasal bone 		0.100 Biomarker phenotype HPO
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		0.010 Biomarker disease BEFREE Inhibiting Wnt/β-Catenin pathway suppresses development of skeletal anomalies including enchondroma and osteosarcoma. 31482846 2019
CUI: C4023443
Disease: Absent antitragus
Absent antitragus 		0.100 GeneticVariation disease CLINVAR
CUI: C1854882
Disease: Absent speech
Absent speech 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0206685
Disease: Acinar Cell Carcinoma
Acinar Cell Carcinoma 		0.030 Biomarker disease BEFREE Ten patients with high-grade transformation of acinic cell carcinomas: Expression profiling of β-catenin and cyclin D1 is useful. 31812438 2020
CUI: C0206685
Disease: Acinar Cell Carcinoma
Acinar Cell Carcinoma 		0.030 Biomarker disease BEFREE FISH abnormalities of CTNNB1 due to trisomy 3 were observed only in acinar cell carcinoma. 19720778 2009
CUI: C0206685
Disease: Acinar Cell Carcinoma
Acinar Cell Carcinoma 		0.030 Biomarker disease BEFREE The high-grade component of AciCC was characterized by strong membrane staining for CK18 and beta-catenin, and nuclear staining for cyclin-D1. 19461506 2009
CUI: C0279661
Disease: Acinar cell carcinoma of pancreas
Acinar cell carcinoma of pancreas 		0.010 GeneticVariation disease BEFREE Genetic and immunohistochemical analysis of pancreatic acinar cell carcinoma: frequent allelic loss on chromosome 11p and alterations in the APC/beta-catenin pathway. 11891193 2002
CUI: C0267026
Disease: Actinic cheilitis
Actinic cheilitis 		0.010 AlteredExpression disease BEFREE Either intracellular β-catenin accumulation or β-catenin mRNA transcription was significantly elevated in the AC tumors, which also showed an inverse correlation with Wif-1 mRNA transcription. 24755523 2014
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia 		0.020 Biomarker disease BEFREE We found β-catenin abnormally accumulated in both human acute T cell leukemia Jurkat cells and human erythroleukemia HEL cells. 20503246 2010
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia 		0.020 Biomarker disease BEFREE To better understand if these new therapies can be used in pediatric populations, we examined the expression of the following seven marker genes involved in signaling pathways targeted by new therapies: β-catenin, suppressor of fused (SUFU), erythroblastic leukemia viral oncogene homolog (ERBB) 2, platelet-derived growth factor receptorα (PDGFRα), proliferating cell nuclear antigen (PCNA), secreted protein acid and rich in cysteine (SPARC), and granulocyte colony-stimulating factor receptor (G-CSFR). 21298772 2011
CUI: C0022672
Disease: Acute Kidney Tubular Necrosis
Acute Kidney Tubular Necrosis 		0.010 AlteredExpression disease BEFREE Fibrosis, HLA-DR expression, serum creatinine concentration (SCr), and urine protein-to-creatinine ratio (UPC) were all increased and β-catenin expression decreased in dogs with primary glomerular disease compared with dogs with acute tubular necrosis. 23850018 2013