Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3553349
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 6
COENZYME Q10 DEFICIENCY, PRIMARY, 6 		0.100 CausalMutation disease CLINVAR Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency. 24140869 2014
CUI: C3553349
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 6
COENZYME Q10 DEFICIENCY, PRIMARY, 6 		0.100 CausalMutation disease CLINVAR COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. 21540551 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.060 AlteredExpression group BEFREE The results demonstrated that: i) PCPH is expressed in TGCT cell lines and tumors, including CIS; ii) its expression levels vary among different TGCT pathologies, being generally higher in well differentiated regions and lower in areas of predominant proliferation; iii) PCPH expression is substantially increased in tumors relative to matched normal testicular tissue; iv) tumor samples express PCPH polypeptides of low molecular mass, consistent with the known size of the PCPH oncoprotein, that are either absent from, or markedly reduced in, matched normal tissue. 16465363 2006
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.060 AlteredExpression group BEFREE Additionally, an upregulation of ENTPD5 in both GBM mouse xenografts and in GBM patient tumors was identified, resulting in dramatically reduced survival. 22992974 2012
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.060 AlteredExpression group BEFREE Suppression of ENTPD5 is sufficient to decrease IGF-IR levels and sensitize bronchiolar tumor cells to serum in vitro and to dietary restriction in vivo. 23719831 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.060 AlteredExpression group BEFREE Understanding possible alternative mechanisms will be essential to devise strategies for the successful treatment of predictably therapeutically resistant tumors expressing either increased PCPH levels or, particularly, the mt-PCPH oncoprotein. 23921441 2013
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.050 AlteredExpression group BEFREE Several studies analyzed the expression of NTPDase5/mt-PCPH in a wide range of tumor cells and evaluated its role and mechanisms in cancer and other pathogenic processes. 25045656 2014
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.050 AlteredExpression group BEFREE Several studies analyzed the expression of NTPDase5/mt-PCPH in a wide range of tumor cells and evaluated its role and mechanisms in cancer and other pathogenic processes. 25045656 2014
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.030 AlteredExpression phenotype BEFREE Results showed that this experimental system is relevant to human breast carcinogenesis and provides an excellent model to study the molecular basis of the regulation of PCPH expression during normal differentiation and pathologic stages of neoplasia of the mammary gland and to analyze the role of PCPH in the carcinogenic process. 11933075 2002
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.030 AlteredExpression phenotype BEFREE These results were in agreement with those from the immunohistochemical study and together indicated that PCPH protein expression represents a good molecular marker to follow the process of human breast carcinogenesis. 15375529 2004
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.020 AlteredExpression disease BEFREE Additionally, an upregulation of ENTPD5 in both GBM mouse xenografts and in GBM patient tumors was identified, resulting in dramatically reduced survival. 22992974 2012
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.020 AlteredExpression disease BEFREE Ectonucleoside Triphosphate Diphosphohydrolase 5 (ENTPD5) has been shown to be important in maintaining cellular function in cancer, and its expression is upregulated through multiple, unique pathways in certain cancers, including laryngeal, glioblastoma multiforme, breast, testicular, and prostate. 31242188 2019
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.020 AlteredExpression group LHGDN PCPH/ENTPD5 expression enhances the invasiveness of human prostate cancer cells by a protein kinase C delta-dependent mechanism. 18006831 2007
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm 		0.020 AlteredExpression phenotype BEFREE To begin testing this concept, we studied PCPH expression in human TGCT cell lines and in 54 solid tumors by RT-PCR, western immunoblot and immunohistochemistry. 16465363 2006
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.020 AlteredExpression disease BEFREE Additionally, an upregulation of ENTPD5 in both GBM mouse xenografts and in GBM patient tumors was identified, resulting in dramatically reduced survival. 22992974 2012
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.020 AlteredExpression disease BEFREE Ectonucleoside Triphosphate Diphosphohydrolase 5 (ENTPD5) has been shown to be important in maintaining cellular function in cancer, and its expression is upregulated through multiple, unique pathways in certain cancers, including laryngeal, glioblastoma multiforme, breast, testicular, and prostate. 31242188 2019
CUI: C0002793
Disease: Anaplasia
Anaplasia 		0.010 AlteredExpression disease BEFREE We observed that normal colocytes featured a strong ENTPD5 cytoplasmic expression whereas a significantly and progressively lower expression was present along with dedifferentiation of the histologic phenotype. 25115394 2014
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 AlteredExpression disease BEFREE Furthermore, these results suggested that characterization of the pattern and level of PCPH expression may be a useful tool for early identification of breast cancers. 15375529 2004
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 AlteredExpression disease BEFREE Results from experiments designed to test such hypothesis demonstrate that, as expected, mt-PCPH expression in human colorectal carcinoma (CRC) cells decreased their ATP levels and conferred resistance to oxaliplatin, a colorectal cancer-relevant chemotherapeutic agent. 23921441 2013
CUI: C0023051
Disease: Laryngeal Diseases
Laryngeal Diseases 		0.010 AlteredExpression group BEFREE This trend toward loss of PCPH expression along malignant progression of the larynx was confirmed by the low to null expression of PCPH in samples of invasive laryngeal carcinoma and by the complete absence of PCPH immunostaining in a laryngeal carcinoma-derived liver metastasis. 12489110 2002
CUI: C0023055
Disease: Laryngeal neoplasm
Laryngeal neoplasm 		0.010 AlteredExpression disease BEFREE Gradual deregulation and loss of PCPH expression in the progression of human laryngeal neoplasia. 12489110 2002
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		0.010 AlteredExpression disease BEFREE Using this antibody, we have performed a study of PCPH expression in a larger sample of human neoplastic cell lines, including some derived from breast, nervous system, colon, lung and pancreas tumors. 11121232 2001
CUI: C0205851
Disease: Germ cell tumor
Germ cell tumor 		0.010 AlteredExpression disease BEFREE PCPH expression is an early event in the development of testicular germ cell tumors. 16465363 2006
CUI: C0282612
Disease: Prostatic Intraepithelial Neoplasias
Prostatic Intraepithelial Neoplasias 		0.010 AlteredExpression disease BEFREE Recently, we described that the PCPH protein becomes highly expressed in human prostatic intraepithelial neoplasia and in PCa, and that the functional interaction between PCPH and protein kinase Cdelta (PKCdelta) increases the invasiveness of human PCa. 19117992 2009
CUI: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor 		0.010 AlteredExpression disease BEFREE The results demonstrated that: i) PCPH is expressed in TGCT cell lines and tumors, including CIS; ii) its expression levels vary among different TGCT pathologies, being generally higher in well differentiated regions and lower in areas of predominant proliferation; iii) PCPH expression is substantially increased in tumors relative to matched normal testicular tissue; iv) tumor samples express PCPH polypeptides of low molecular mass, consistent with the known size of the PCPH oncoprotein, that are either absent from, or markedly reduced in, matched normal tissue. 16465363 2006