Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
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
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
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
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
0.800 GeneticVariation disease BEFREE Low frequency of beta-catenin gene mutations in pilomatricoma. 12575848 2002
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
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
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
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
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
0.800 Biomarker disease BEFREE A preliminary immunohistological study revealed prominent beta-catenin staining in basophilic cells of pilomatricomas, especially in nuclei. 11472567 2001
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
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
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
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
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
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
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
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
Entrez Id: 58495
Gene Symbol: OVOL2
OVOL2
0.310 AlteredExpression disease BEFREE OVOL2 was also expressed in pilomatricoma, with only partial expression of OVOL1. 26873447 2016
Entrez Id: 5017
Gene Symbol: OVOL1
OVOL1
0.310 Biomarker disease BEFREE Activation of the OVOL1-OVOL2 Axis in the Hair Bulb and in Pilomatricoma. 26873447 2016
Entrez Id: 324
Gene Symbol: APC
APC
0.120 GeneticVariation disease BEFREE APC gene mutations were not detected in 27 pilomatricomas with/without beta-catenin nuclear staining. 16378715 2006
Entrez Id: 324
Gene Symbol: APC
APC
0.120 Biomarker disease BEFREE We investigated beta-catenin and adenomatous polyposis coli (APC) gene abnormalities in human pilomatricoma, in which a high incidence of beta-catenin gene mutations has been reported. 12575848 2002
Entrez Id: 51176
Gene Symbol: LEF1
LEF1
0.020 Biomarker 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
Entrez Id: 51176
Gene Symbol: LEF1
LEF1
0.020 Biomarker disease BEFREE We found nuclear LEF-1 in the dividing tumour cells, providing biochemical evidence that pilomatricomas are derived from hair matrix cells. 10192393 1999
Entrez Id: 595
Gene Symbol: CCND1
CCND1
0.010 AlteredExpression disease BEFREE In order to clarify the role of bcl-1, we used immunohistochemical means to study 10 cases of histologically proven pilomatricoma for bcl-2 expression. 9185911 1997
Entrez Id: 836
Gene Symbol: CASP3
CASP3
0.010 Biomarker disease BEFREE In the present study, surgically extirpated specimens of epidermal cyst, trichilemmal cyst, and pilomatricoma (10 cases in each) were subjected to immunohistochemistry for single-strand DNA (ssDNA), gamma-H2AX, cleaved caspase-3, cleaved lamin A, caspase-14, and CD138 to compare the modes of cell death and keratinization pattern. 21048491 2011
Entrez Id: 1015
Gene Symbol: CDH17
CDH17
0.010 Biomarker disease BEFREE Immunohistochemistry for CDX2, β-catenin, LEF-1, CK19, CK5, Special AT-rich sequence- binding protein 2 (SATB2), cadherin 17 and androgen receptor was performed on pilomatricomas (PMs) (N = 12), pilomatrical carcinomas (PMCAs) (N = 12) and non-pilomatrical cutaneous tumors (N = 18). 29369390 2018
Entrez Id: 374308
Gene Symbol: PTCHD3
PTCHD3
0.010 Biomarker disease BEFREE Portraying and tracing the impact of different production systems on the volatile organic compound composition of milk by PTR-(Quad)MS and PTR-(ToF)MS. 28873560 2018
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
0.010 Biomarker disease BEFREE In the present study, surgically extirpated specimens of epidermal cyst, trichilemmal cyst, and pilomatricoma (10 cases in each) were subjected to immunohistochemistry for single-strand DNA (ssDNA), gamma-H2AX, cleaved caspase-3, cleaved lamin A, caspase-14, and CD138 to compare the modes of cell death and keratinization pattern. 21048491 2011
Entrez Id: 3014
Gene Symbol: H2AX
H2AX
0.010 Biomarker disease BEFREE In the present study, surgically extirpated specimens of epidermal cyst, trichilemmal cyst, and pilomatricoma (10 cases in each) were subjected to immunohistochemistry for single-strand DNA (ssDNA), gamma-H2AX, cleaved caspase-3, cleaved lamin A, caspase-14, and CD138 to compare the modes of cell death and keratinization pattern. 21048491 2011
Entrez Id: 6382
Gene Symbol: SDC1
SDC1
0.010 Biomarker disease BEFREE The keratinizing component showed caspase-14(+)/CD138(-) in epidermal cyst, caspase-14(-)/CD138(+) in trichilemmal cyst, and caspase-14(-)/CD138(-) in pilomatricoma. 21048491 2011
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
0.010 Biomarker disease BEFREE The present results suggest that osteopontin produced by macrophages may play a significant role in the deposition of calcium phosphate in the shadow cell nests of pilomatricomas. 7615968 1995
Entrez Id: 596
Gene Symbol: BCL2
BCL2
0.010 Biomarker disease BEFREE Based on our findings of increased bcl-2 staining, we concluded that the faulty suppression of apoptosis contributes to the pathogenesis of pilomatricoma. 9185911 1997