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: 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: 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: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 Biomarker disease BEFREE Among them, three continuously down-regulated (MAOA, ENTPD5, and MOSC2) and one continuously overexpressed (COL12A1) are reported, to our best knowledge, for the first time in a connection to colon cancer onset. 21061036 2011
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: 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: C0031036
Disease: Polyarteritis Nodosa
Polyarteritis Nodosa 		0.010 GeneticVariation disease BEFREE A comprehensive pan-cancer analysis revealed a highly significant correlation between p53 GOF mutations and ENTPD5 expression. 27956623 2016
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: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 Biomarker disease BEFREE Our results suggest that ENTPD5 affects lung cancer apoptosis via Caspase 3 pathway, and can be potentially used to monitor prognosis or to guide appropriate therapeutic regimens. 25794010 2015
CUI: C0280324
Disease: Laryngeal Squamous Cell Carcinoma
Laryngeal Squamous Cell Carcinoma 		0.010 Biomarker disease BEFREE In addition, detection of altered PCPH polypeptides by Western analysis potentially can be applied to the early identification of laryngeal squamous cell carcinoma. 12489110 2002
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: C0334036
Disease: Apocrine metaplasia
Apocrine metaplasia 		0.010 Biomarker disease BEFREE Results obtained from the immunohistochemical study showed that PCPH was undetectable in samples of normal breast and of benign diseases, with the exception of glands presenting apocrine metaplasia, in which an intense PCPH stain was observed both in the basal cytoplasm of the secretory cells and in the apocrine secretion. 15375529 2004
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 Biomarker 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: C0494165
Disease: Secondary malignant neoplasm of liver
Secondary malignant neoplasm of liver 		0.010 Biomarker disease 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: C0585955
Disease: Dysplasia of larynx
Dysplasia of larynx 		0.010 Biomarker disease BEFREE These results indicated that PCPH protein analysis might allow for the distinction between grades of laryngeal dysplasia. 12489110 2002
CUI: C0595989
Disease: Carcinoma of larynx
Carcinoma of larynx 		0.010 Biomarker disease 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: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 Biomarker 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: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 Biomarker disease BEFREE Our results suggest that ENTPD5 affects lung cancer apoptosis via Caspase 3 pathway, and can be potentially used to monitor prognosis or to guide appropriate therapeutic regimens. 25794010 2015
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 Biomarker disease BEFREE Among them, three continuously down-regulated (MAOA, ENTPD5, and MOSC2) and one continuously overexpressed (COL12A1) are reported, to our best knowledge, for the first time in a connection to colon cancer onset. 21061036 2011