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: C0206711
Disease: Pilomatrixoma
Pilomatrixoma
0.800 GeneticVariation disease BEFREE An elevated number of activating CTNNB1 alterations in hair matrix cells may explain the development of multiple pilomatricomas in CMMR-D patients. 23629955 2013
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma
0.800 GeneticVariation disease BEFREE Low frequency of beta-catenin gene mutations in pilomatricoma. 12575848 2002
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma
0.800 GeneticVariation disease BEFREE We validated the strategy in the HCT116 CRC cell line which has an in-frame deletion of β-catenin serine 45, and then studied human tumor microarrays containing colon adenomas, CRCs, solid pseudopapillary neoplasms of the pancreas as well as the whole tissue sections of CRCs, desmoid fibromatosis, and pilomatrixoma of the skin. 30177831 2019
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma
0.800 GeneticVariation disease BEFREE The data suggest that mutations in CTNNB1 are the major driver mutations of CCOT, and that CCOT is the genetic analog of pilomatrixoma and adamantinomatous craniopharyngioma in odontogenic tissue. 28658279 2017
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma
0.800 GeneticVariation disease CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma
0.800 GeneticVariation disease BEFREE PMs and PMCAs were positive for CDX2 (9/12 PMs, sensitivity = 75%, specificity = 100%; 11/12 PMCAs, sensitivity = 92%, specificity = 100%; P < 0.01), β-catenin (12/12 PMs, sensitivity = 100%, specificity = 94%; 10/12 PMCAs, sensitivity = 83%, specificity = 94%; P < 0.01) and LEF-1 (12/12 PMs, sensitivity = 100%, specificity = 56%; 12/12 PMCAs, sensitivity = 100%, specificity = 56%; P < 0.01). 29369390 2018
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma
0.800 GeneticVariation disease UNIPROT Given that the skin of these adult mice also exhibits signs of de novo hair-follicle morphogenesis, we wondered whether human pilomatricomas might originate from hair matrix cells and whether they might possess beta-catenin-stabilizing mutations. 10192393 1999
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma
0.800 GeneticVariation disease UNIPROT Additionally, the beta-catenin mutation in matrix cells of the HF stabilizes beta-catenin protein, which translocates into the nucleus, where it activates of gene transcription together with lymphoid enhancer factor-1 producing pilomatrixoma. 11703283 2001
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma
0.800 GeneticVariation disease UNIPROT Identification of two novel regulated serines in the N terminus of beta-catenin. 12027456 2002
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma
0.800 Biomarker disease BEFREE Intense nucleo-cytoplasmic immunoreactivity for C terminus beta-catenin antibodies was observed in all pilomatricomas and in single cases of trichoepithelioma and squamous cell carcinoma showing peculiar signs of matrical differentiation. 14633602 2003
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma
0.800 Biomarker disease BEFREE Using immunostaining, we found that 81% (26/32) of pilomatricomas displayed nuclear beta-catenin staining in basophilic cells. 16378715 2006
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma
0.800 Biomarker disease BEFREE Given that the skin of these adult mice also exhibits signs of de novo hair-follicle morphogenesis, we wondered whether human pilomatricomas might originate from hair matrix cells and whether they might possess beta-catenin-stabilizing mutations. 10192393 1999
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma
0.800 Biomarker disease BEFREE A preliminary immunohistological study revealed prominent beta-catenin staining in basophilic cells of pilomatricomas, especially in nuclei. 11472567 2001
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma
0.800 Biomarker disease HPO
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma
0.800 Biomarker disease CTD_human
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma
0.800 AlteredExpression disease BEFREE Additionally, the beta-catenin mutation in matrix cells of the HF stabilizes beta-catenin protein, which translocates into the nucleus, where it activates of gene transcription together with lymphoid enhancer factor-1 producing pilomatrixoma. 11703283 2001
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma
0.800 SomaticCausalMutation disease ORPHANET Given that the skin of these adult mice also exhibits signs of de novo hair-follicle morphogenesis, we wondered whether human pilomatricomas might originate from hair matrix cells and whether they might possess beta-catenin-stabilizing mutations. 10192393 1999
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma
0.800 CausalMutation disease CLINVAR