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: 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: 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: 58495
Gene Symbol: OVOL2
OVOL2
0.310 Biomarker disease CTD_human OVOL2 was also expressed in pilomatricoma, with only partial expression of OVOL1. 26873447 2016
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: 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: 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 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: 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: 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: 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: 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: 23314
Gene Symbol: SATB2
SATB2
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: 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