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: C0014145
Disease: Yolk Sac Tumor
Yolk Sac Tumor 		0.030 AlteredExpression disease BEFREE Finally, we prepared tissue microarrays containing GCTs from 83 different patients and demonstrated high levels of beta-catenin protein expression in 100% and nuclear accumulation in approximately 50% to 70% of all endodermal sinus tumors and immature teratomas (ITs). 16822086 2006
CUI: C0014145
Disease: Yolk Sac Tumor
Yolk Sac Tumor 		0.030 Biomarker disease BEFREE Methylation of APC and LOH 5q21-22 in YSTs and teratomas provide evidence for involvement of APC in the accumulation of β-catenin and activation of the WNT pathway. 21225915 2011
CUI: C0014145
Disease: Yolk Sac Tumor
Yolk Sac Tumor 		0.030 Biomarker disease BEFREE Differences between DG and YST are underlined by their miRNA/mRNA expression patterns, suggesting preferential involvement of the WNT/β-catenin and TGF-β/bone morphogenetic protein signaling pathways among YSTs. 23575763 2013
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		0.010 AlteredExpression disease BEFREE We further detected upregulation of Wnt/β-catenin-VEGF signaling in the fetal Dax1-deficient testis, suggesting abnormal activation of signaling pathways in the absence of DAX1 as one mechanism of AHC-HH. 26464492 2015
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.010 AlteredExpression disease BEFREE These data provide the first evidence that malfunctions of APC/β-catenin pathways cause pathophysiological changes consistent with IS. 27852007 2017
CUI: C0751396
Disease: Well Differentiated Oligodendroglioma
Well Differentiated Oligodendroglioma 		0.020 Biomarker disease BEFREE Modulation of the Wnt/beta-catenin pathway in human oligodendroglioma cells by Sox17 regulates proliferation and differentiation. 23474492 2013
CUI: C0751396
Disease: Well Differentiated Oligodendroglioma
Well Differentiated Oligodendroglioma 		0.020 AlteredExpression disease BEFREE Furthermore, it was obvious that LHX3 responds to blight corpuscle admeasurement in vitro and LHX3 announcement activated with animated β-catenin levels in HG-OT and β-catenin action was appropriate for LHX3's oncogenic effects. 25399296 2015
CUI: C3273033
Disease: Well Differentiated Hepatocellular Carcinoma
Well Differentiated Hepatocellular Carcinoma 		0.010 GeneticVariation disease BEFREE We report a case of a well-differentiated hepatocellular neoplasm with Dubin-Johnson-like pigment displaying histological features overlapping with a beta-catenin mutated inflammatory adenoma and a well-differentiated hepatocellular carcinoma in a non-cirrhotic liver. 26663015 2015
CUI: C0024419
Disease: Waldenstrom Macroglobulinemia
Waldenstrom Macroglobulinemia 		0.010 AlteredExpression disease BEFREE The expression and secretion of eCyPA by BMECs was enhanced by BCL9, a Wnt-β-catenin transcriptional coactivator that is selectively expressed by these cells. eCyPA levels were higher in bone marrow serum than in peripheral blood in individuals with MM, and eCyPA-CD147 blockade suppressed MM colonization and tumor growth in the in vivo scaffold system. eCyPA also promoted the migration of chronic lymphocytic leukemia and lymphoplasmacytic lymphoma cells, two other B cell malignancies that colonize the bone marrow and express CD147. 26005854 2015
CUI: C0042963
Disease: Vomiting
Vomiting 		0.100 Biomarker phenotype HPO
CUI: C0344290
Disease: Vitreoretinal degeneration
Vitreoretinal degeneration 		0.100 Biomarker disease HPO
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) 		0.010 AlteredExpression disease BEFREE However, no significant differences were observed with respect to the expression of beta-catenin, E-cadherin, and collagen IV between vitiligo and non lesional skin. 28214208 2017
CUI: C0042900
Disease: Vitiligo
Vitiligo 		0.010 AlteredExpression disease BEFREE However, no significant differences were observed with respect to the expression of beta-catenin, E-cadherin, and collagen IV between vitiligo and non lesional skin. 28214208 2017
CUI: C3536984
Disease: Vitamin D-Resistant Rickets, X-Linked
Vitamin D-Resistant Rickets, X-Linked 		0.010 GeneticVariation disease BEFREE The seminal observations leading to these discoveries were the following: 1) mutations in FGF23 cause ADHR by limiting cleavage of the bioactive intact molecule, at a subtilisin-like protein convertase (SPC) site, resulting in increased circulating FGF23 levels and hypophosphatemia; 2) mutations in DMP1 cause ARHR, not only by increasing serum FGF23, albeit by enhanced production and not limited cleavage, but also by limiting production of the active DMP1 component, the C-terminal fragment, resulting in dysregulated production of DKK1 and β-catenin, which contributes to impaired bone mineralization; and 3) mutations in PHEX cause XLH both by altering FGF23 proteolysis and production and causing dysregulated production of DKK1 and β-catenin, similar to abnormalities in ADHR and ARHR, but secondary to different central pathophysiological events. 23403405 2013
CUI: C0042769
Disease: Virus Diseases
Virus Diseases 		0.020 AlteredExpression group BEFREE Here we show that secretion of WNT2B and WNT9B and stabilization of β-catenin (CTNNB1) upon virus infection negatively regulate expression of representative inducible genes IFNB1, IFIT1 and TNF in a CTNNB1-dependent effector mechanism. 23785285 2013
CUI: C0042769
Disease: Virus Diseases
Virus Diseases 		0.020 AlteredExpression group BEFREE Furthermore, NDV infection leads to a reduction in cytoplasmic and nuclear levels of β-catenin. 31350432 2019
CUI: C0272401
Disease: Virchow's node (disorder)
Virchow's node (disorder) 		0.010 Biomarker disease BEFREE Key signaling nodes in mammary gland development and cancer: β-catenin. 21067528 2010
CUI: C0042571
Disease: Vertigo
Vertigo 		0.100 Biomarker phenotype HPO
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.010 AlteredExpression group BEFREE Our study reveals that SNHG6 may contribute to VSD formation via negative regulation of miR-101 and activation of Wnt/β-catenin pathway. 30782246 2019
CUI: C0600519
Disease: Ventricular Remodeling
Ventricular Remodeling 		0.300 Biomarker phenotype CTD_human A context-specific cardiac β-catenin and GATA4 interaction influences TCF7L2 occupancy and remodels chromatin driving disease progression in the adult heart. 29394407 2018
CUI: C0242698
Disease: Ventricular Dysfunction, Left
Ventricular Dysfunction, Left 		0.300 Biomarker phenotype CTD_human A context-specific cardiac β-catenin and GATA4 interaction influences TCF7L2 occupancy and remodels chromatin driving disease progression in the adult heart. 29394407 2018
CUI: C1096458
Disease: Vascular occlusion
Vascular occlusion 		0.010 Biomarker disease BEFREE Thus, inhibiting β-catenin has potential as a therapy to limit SMC accumulation and vascular obstruction. 28302627 2017
CUI: C2004435
Disease: Vascular insufficiency of intestine
Vascular insufficiency of intestine 		0.010 AlteredExpression disease BEFREE Protective effects of ginsenoside Rg1 on intestinal ischemia/reperfusion injury-induced oxidative stress and apoptosis via activation of the Wnt/β-catenin pathway. 27910952 2016
CUI: C3267003
Disease: Vascular endothelial growth factor overexpression
Vascular endothelial growth factor overexpression 		0.010 Biomarker disease BEFREE Abnormalities of β-catenin and VEGF overexpression play an important role in the neoplastic progression of sporadic desmoid tumours. 22034877 2011
CUI: C0342649
Disease: Vascular calcification
Vascular calcification 		0.340 Therapeutic phenotype CTD_human Quercetin attenuates warfarin-induced vascular calcification in vitro independently from matrix Gla protein. 23223575 2013