CDC73, cell division cycle 73, 79577

N. diseases: 144; N. variants: 31
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0042065
Disease: Genitourinary Neoplasms
Genitourinary Neoplasms 		0.010 GeneticVariation group BEFREE Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is a rare disease caused by CDC73 germline mutations, with familial primary hyperparathyroidism (pHPT), ossifying jaw tumors, genito-urinary neoplasms. 31493194 2020
CUI: C0278681
Disease: metastatic parathyroid cancer
metastatic parathyroid cancer 		0.010 Biomarker disease BEFREE A patient with CDC73-associated metastatic parathyroid carcinoma was treated with combined anti-hPTH immunotherapy and surgery. 31782130 2020
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		0.010 Biomarker disease BEFREE Collectively, these data show that JAG2, AURKA, PGK1, and HRPT1 have the potential to be used independently as diagnostic, prognostic, or treatment biomarkers in endometrial cancer. 30679932 2019
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.010 Biomarker disease BEFREE Loss of Cdc73 in hematopoietic cells is lethal because of extensive bone marrow failure. 31031188 2019
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.010 Biomarker disease BEFREE The percent staining of parafibromin (p < 0.0001), RB (p = 0.04), Ki67 (p = 0.02), PGP9.5 (p = 0.04), and Galectin-3 (p = 0.01) differed significantly in the three diagnostic groups. 31734935 2019
CUI: C0271844
Disease: Parathyroid hyperplasia
Parathyroid hyperplasia 		0.010 AlteredExpression disease BEFREE The rates of loss of parafibromin expression were 0.522 (95% CI: 0.444-0.599), 0.291 (95% CI: 0.207-0.391), 0.027 (95% CI: 0.011-0.064), and 0.032 (95% CI: 0.008-0.119) in PC, atypical parathyroid adenoma (APA), parathyroid adenoma (PA), and parathyroid hyperplasia, respectively. 30926677 2019
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.010 Biomarker disease BEFREE Collectively, these data show that JAG2, AURKA, PGK1, and HRPT1 have the potential to be used independently as diagnostic, prognostic, or treatment biomarkers in endometrial cancer. 30679932 2019
CUI: C0745106
Disease: hyperparathyroid
hyperparathyroid 		0.010 Biomarker disease BEFREE Familial isolated hyperparathyroidism (FIHP) is defined as familial primary hyperparathyroidism (FH) without a characteristic extra-parathyroidal feature of a more complex hyperparathyroid syndrome. 30848815 2019
CUI: C0879615
Disease: Stromal Neoplasm
Stromal Neoplasm 		0.010 GeneticVariation disease BEFREE CDC73 Germline Mutation in a Family With Mixed Epithelial and Stromal Tumors. 30452964 2019
CUI: C1272677
Disease: Benign mixed epithelial and stromal tumor of kidney
Benign mixed epithelial and stromal tumor of kidney 		0.010 GeneticVariation disease BEFREE Patients with MEST may be at risk for HPT-JT and CDC73 germline mutation testing of MEST patients should be considered. 30452964 2019
CUI: C1333600
Disease: Hereditary Malignant Neoplasm
Hereditary Malignant Neoplasm 		0.010 GeneticVariation disease BEFREE Loss of heterozygosity (LOH) of the CDC73 locus in many HPT-JT associated parathyroid tumors from patients with germline mutation is in accordance with Knudson's "two-hit" model for hereditary cancer. 30799315 2019
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.010 GeneticVariation disease BEFREE Loss of function of the cell division cycle protein 73 homolog (CDC73) gene is responsible for the syndrome. 30799315 2019
CUI: C0023418
Disease: leukemia
leukemia 		0.010 Biomarker disease BEFREE Here, we explored the transcriptional targets regulated by the PAFc that facilitate leukemia by performing RNA-sequencing after conditional loss of the PAFc subunit Cdc73. 28945229 2018
CUI: C0278684
Disease: recurrent parathyroid cancer
recurrent parathyroid cancer 		0.010 GeneticVariation disease BEFREE Previously unreported deletion of CDC73 involving exons 1-13 was detected in a patient with recurrent parathyroid carcinoma. 30567092 2018
CUI: C0334294
Disease: Multiple adenomatous polyps
Multiple adenomatous polyps 		0.010 AlteredExpression disease BEFREE Immunohistochemical analysis revealed the absence of parafibromin and decreased APC (adenomatosis polyposis coli) expression. 30361844 2018
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.010 Biomarker disease BEFREE Here, we explored the transcriptional targets regulated by the PAFc that facilitate leukemia by performing RNA-sequencing after conditional loss of the PAFc subunit Cdc73. 28945229 2018
CUI: C1809471
Disease: Familial benign hypercalcemia
Familial benign hypercalcemia 		0.010 Biomarker disease BEFREE The phenotypes and outcome of MEN1-, MEN4- and HRPT2-related HPTH are briefly described, with a focus on the most recent literature data and is compared with familial hypocalciuric hypercalcemia. 28874394 2018
CUI: C0002793
Disease: Anaplasia
Anaplasia 		0.010 AlteredExpression disease BEFREE Immunohistochemically, parafibromin expression was stronger in primary cancers than that in ovarian normal tissue (P < 0.05) but weaker than the metastatic cancers (P < 0.05) with a positive correlation with dedifferentiation, ki-67 expression and the lower cumulative survival rate (P < 0.05). 26409451 2016
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.010 GeneticVariation disease BEFREE We found that LS-associated SHP2 mutants (Y279C, T468M, Q506P, and Q510E) exhibited a substantially reduced phosphatase activity toward parafibromin when compared with wild-type SHP2. 26742426 2016
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.010 AlteredExpression disease BEFREE These findings indicate that parafibromin downregulation might promote the pathogenesis, dedifferentiation and metastasis of ovarian cancers possibly by suppressing aggressive phenotypes, such as proliferation, cell cycle, apoptosis, migration and invasion. 26409451 2016
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.010 AlteredExpression disease BEFREE The roles of parafibromin expression in ovarian epithelial carcinomas: a marker for differentiation and prognosis and a target for gene therapy. 26409451 2016
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 AlteredExpression disease BEFREE The clinicopathological significances and biological functions of parafibromin expression in head and neck squamous cell carcinomas. 26124004 2015
CUI: C0023051
Disease: Laryngeal Diseases
Laryngeal Diseases 		0.010 AlteredExpression group BEFREE The HNSCCs in tongue showed more parafibromin expression than those in larynx (P < 0.05). 26124004 2015
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 AlteredExpression disease BEFREE Downregulated parafibromin expression is involved in the pathogenesis and progression of parathyroid, breast, gastric, colorectal, and lung cancers. 26124004 2015
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		0.010 AlteredExpression disease BEFREE Parafibromin expression was negatively correlated with lymph node metastasis, tumor-node-metastasis (TNM) staging, but positively with human papillomavirus (HPV) positivity (P < 0.05). 26124004 2015