Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
0.800 Biomarker disease HPO
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
0.800 CausalMutation disease CLINVAR
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
0.800 Biomarker disease CTD_human
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.400 Biomarker disease CTD_human
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.400 Biomarker disease HPO
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.400 CausalMutation disease CLINVAR
Entrez Id: 324
Gene Symbol: APC
APC
0.120 Biomarker disease HPO
Entrez Id: 9817
Gene Symbol: KEAP1
KEAP1
0.100 Biomarker disease HPO
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
0.100 Biomarker disease HPO
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: 7062
Gene Symbol: TCHH
TCHH
0.010 AlteredExpression disease BEFREE Further, trichohyalin was found to be expressed not only in the secondary hair structure in trichofolliculoma but also in a certain cell lineage that differentiates to squamoid cells in pilomatricoma. 8734653 1996
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: 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
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 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
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
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
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: 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 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 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
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 GeneticVariation disease UNIPROT Identification of two novel regulated serines in the N terminus of beta-catenin. 12027456 2002
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: 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: 650
Gene Symbol: BMP2
BMP2
0.010 AlteredExpression disease BEFREE The results strongly suggest that BMP2 or 4 expressed in pilomatricoma is responsible for the induction of proalpha(1)(II) collagen mRNA in the overlying epidermal cells resulting in the deposition of type II collagen in the DEJ. 15102076 2004