PTCH2, patched 2, 8643

N. diseases: 114; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		0.050 GeneticVariation disease BEFREE BRAF (V600E) mutation was more common in the conventional PTC (38 out of 62; 61%) than in the follicular variant of PTC (2 out of 17; 11.7%). 22105775 2012
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		0.050 Biomarker disease BEFREE One RET/PTC-1 and one RET/PTC-2 rearrangement were detected in the PTCs. 15785245 2005
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		0.050 GeneticVariation disease BEFREE A t(10;17) translocation creates the RET/PTC2 chimeric transforming sequence in papillary thyroid carcinoma. 7519046 1994
CUI: C3811653
Disease: Experimental Organism Basal Cell Carcinoma
Experimental Organism Basal Cell Carcinoma 		0.040 GeneticVariation phenotype BEFREE Smoothened-activating mutations and PTCH2 mutations are also involved in BCC formation. 11966727 2002
CUI: C3811653
Disease: Experimental Organism Basal Cell Carcinoma
Experimental Organism Basal Cell Carcinoma 		0.040 Biomarker phenotype BEFREE More over, BCC1 cells overexpress the basal cell carcinoma-specific genes ptch and ptch2. 11982765 2002
CUI: C3811653
Disease: Experimental Organism Basal Cell Carcinoma
Experimental Organism Basal Cell Carcinoma 		0.040 Biomarker phenotype BEFREE Patched (Ptch) receptors are critical negative regulators of Hedgehog signaling, where Ptch1 loss causes basal cell carcinoma and Ptch1;Ptch2 loss disrupts skin and hair follicle development.Adolphe et al. use single molecule fluorescent in situ hybridization to show quantitatively that Ptch receptors create a Hedgehog signaling gradient that may specify hair follicle development. 28010757 2017
CUI: C3811653
Disease: Experimental Organism Basal Cell Carcinoma
Experimental Organism Basal Cell Carcinoma 		0.040 Biomarker phenotype BEFREE Here we set out to assess how Ptch2 inhibits BCC growth. 29869097 2018
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary 		0.020 GeneticVariation disease BEFREE Our results indicate that: 1) the overall frequency of ret rearrangements was 84% in papillary carcinomas (16/19) and 45% (9/20) in follicular adenomas; 2) in contrast with the results obtained in the Chernobyl tumors, the most frequently observed chimeric gene was RET/PTC1; and 3) all the tumors were negative for RET/PTC2. 9466701 1997
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary 		0.020 Biomarker disease BEFREE Our data concerning the radiation-associated tumors, showed that: (1) the overall frequency of ret rearrangements was 84% in papillary carcinomas (16/19) and 45% (9/20) in follicular adenomas; (2) in contrast with the results obtained in the Chernobyl tumors, the most frequently observed chimeric gene was RET/PTC1 instead of the RET/PTC3 and (3) all the tumors were negative for RET/PTC2. 9315093 1997
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.020 Biomarker disease BEFREE The anti-RET antibodies were reactive with 64-kDa (p64ptc-1) and 81-kDa (p81ptc-2) proteins from lysates of ptc-1 and ptc-2 transformed cells, respectively, and identified two proteins of 140 kDa and 160 kDa from extracts of SK-N-SH, a neuroblastoma cell line previously shown to express two differently glycosylated forms of the normal RET product. 1437145 1992
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.020 AlteredExpression disease BEFREE We conclude that Patched 2 is expressed, but not frequently mutated, in high stage neuroblastomas and is therefore not likely to be involved in the genesis of this tumor. 10762630 2000
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		0.020 Biomarker disease BEFREE Another activated form of the RET oncogene has subsequently been found in a thyroid carcinoma and is now referred to as RET/PTC2. 8290261 1994
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		0.020 Biomarker disease BEFREE We report the identification of proteins induced in response to RET/PTC2, an oncogene implicated in thyroid cancers. 16843637 2006
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 Biomarker phenotype BEFREE The finding of the transforming protein in primary tumor cell extracts supports the conclusion that RET/PTC2 activation plays a role in papillary thyroid tumorigenesis. 7519046 1994
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 Biomarker phenotype BEFREE We speculate that PTCH2 modulates tumorigenesis linked to the PTCH1 mutation and is likely associated with the congenital onset of the RMS observed in our patient. 29230040 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 Biomarker group BEFREE Knockdown experiments with XRCC5 and PTCH2 in a clear cell cancer cell line resulted in significant growth inhibition. 26059197 2015
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		0.010 Biomarker disease BEFREE Patched-2 functions to limit Patched-1 deficient skin cancer growth. 29869097 2018
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid 		0.010 Biomarker disease BEFREE We report the identification of proteins induced in response to RET/PTC2, an oncogene implicated in thyroid cancers. 16843637 2006
CUI: C0023492
Disease: Leukemia, T-Cell
Leukemia, T-Cell 		0.010 Biomarker disease BEFREE Pair-wise comparisons suggested that some genes (zinc finger protein 350 [ZNF350], solute carrier family 1, member 6 [SLC1A6], F-box protein 7 [FBX07] and vacuole 14 protein homolog [VAC14]) distinguished most classes of fatigued subjects from healthy subjects, whereas others (patched homolog 2 [PTCH2] and T-cell leukemia/lymphoma [TCL1A]) differentiated specific fatigue classes. 16610948 2006
CUI: C0023518
Disease: Leukocytosis
Leukocytosis 		0.010 Biomarker phenotype BEFREE Cytopenias, LKS loss, and mobilization are all caused by loss of Ptch2 in the niche, whereas hematopoietic loss of Ptch2 drives leukocytosis and promotes LKS maintenance and replating capacity in vitro. 26834157 2016
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease 		0.010 Biomarker group BEFREE Here, we find excess Hedgehog (HH) ligand secretion and loss of PTCH2 in myeloproliferative disease, which drives canonical and noncanonical HH-signaling. 26834157 2016
CUI: C0028945
Disease: oligodendroglioma
oligodendroglioma 		0.010 Biomarker disease BEFREE Mutational study of the 1p located genes p18ink4c, Patched-2, RIZ1 and KIF1B in oligodendrogliomas. 15711769 2005
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma 		0.010 GeneticVariation disease BEFREE We speculate that PTCH2 modulates tumorigenesis linked to the PTCH1 mutation and is likely associated with the congenital onset of the RMS observed in our patient. 29230040 2018
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		0.010 Biomarker disease BEFREE No positivity was observed for ret/ PTC-2. p53 immunohistochemistry was positive in only one section of a recurrent thyroid tumor sample. 9916927 1999
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 Biomarker phenotype BEFREE Ptch2 loss drives myeloproliferation and myeloproliferative neoplasm progression. 26834157 2016