CDC73, cell division cycle 73, 79577

N. diseases: 144; N. variants: 31
Disease: Hyperparathyroidism-Jaw Tumor Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1704981
Disease: Hyperparathyroidism-Jaw Tumor Syndrome
Hyperparathyroidism-Jaw Tumor Syndrome 		0.800 Biomarker disease BEFREE Parafibromin is a protein encoded by hyperparathyroidism 2 (HRPT2) and its downregulated expression is involved in the pathogenesis of parathyroid, breast, gastric, colorectal, lung, head and neck cancers. 26409451 2016
CUI: C1704981
Disease: Hyperparathyroidism-Jaw Tumor Syndrome
Hyperparathyroidism-Jaw Tumor Syndrome 		0.800 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: C1704981
Disease: Hyperparathyroidism-Jaw Tumor Syndrome
Hyperparathyroidism-Jaw Tumor Syndrome 		0.800 Biomarker disease CLINGEN Mutations predicted to inactivate parafibromin were first detected in the germline of patients with hyperparathyroidism-jaw tumor (HPT-JT) syndrome. 16931959 2006
CUI: C1704981
Disease: Hyperparathyroidism-Jaw Tumor Syndrome
Hyperparathyroidism-Jaw Tumor Syndrome 		0.800 GeneticVariation disease BEFREE HRPT2 mutations are more frequently associated with the hyperparathyroidism-jaw tumour syndrome (HPT-JT). 16061557 2005
CUI: C1704981
Disease: Hyperparathyroidism-Jaw Tumor Syndrome
Hyperparathyroidism-Jaw Tumor Syndrome 		0.800 Biomarker disease BEFREE Though the loss of the oncosuppressor CDC73/HRPT2 gene product, parafibromin, has been involved in the hyperparathyroidism-jaw tumor syndrome and in a consistent set of sporadic PaCs, parathyroid carcinogenesis remains obscure. 19926710 2010
CUI: C1704981
Disease: Hyperparathyroidism-Jaw Tumor Syndrome
Hyperparathyroidism-Jaw Tumor Syndrome 		0.800 GeneticVariation disease BEFREE Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is a rare, autosomal-dominant disease secondary to germline-inactivating mutations of the tumor suppressor gene HRPT2/CDC73. 25444225 2014
CUI: C1704981
Disease: Hyperparathyroidism-Jaw Tumor Syndrome
Hyperparathyroidism-Jaw Tumor Syndrome 		0.800 GeneticVariation disease BEFREE Mutations in the tumour suppressor HRPT2 occur in patients with parathyroid carcinoma, kidney tumours and Hyperparathyroidism-Jaw Tumour syndrome. 19332451 2009
CUI: C1704981
Disease: Hyperparathyroidism-Jaw Tumor Syndrome
Hyperparathyroidism-Jaw Tumor Syndrome 		0.800 GeneticVariation disease BEFREE Genetic studies identified de novo HRPT2 germline mutations in cases 1 (c.518_521delTGTC [p.Ser174LysfsX27]) and 2 (c.226 C > T [p.Arg76X]), unveiling the hereditary HPT-JT syndrome in both patients. 21360064 2011
CUI: C1704981
Disease: Hyperparathyroidism-Jaw Tumor Syndrome
Hyperparathyroidism-Jaw Tumor Syndrome 		0.800 GeneticVariation disease BEFREE CDC73 mutations frequently underlie the hyperparathyroidism-jaw tumor syndrome, familial isolated hyperparathyroidism (FIHP), and parathyroid carcinoma. 24823466 2014
CUI: C1704981
Disease: Hyperparathyroidism-Jaw Tumor Syndrome
Hyperparathyroidism-Jaw Tumor Syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND Hereditary hyperparathyroidism and multiple ossifying jaw fibromas: a clinically and genetically distinct syndrome. 2123361 1990
CUI: C1704981
Disease: Hyperparathyroidism-Jaw Tumor Syndrome
Hyperparathyroidism-Jaw Tumor Syndrome 		0.800 Biomarker disease BEFREE Inactivation of the HRPT2/CDC73 gene, encoding the putative tumor-suppressor protein parafibromin and discovered in the context of the hyperparathyroidism-jaw tumor (HPT-JT) syndrome, is a common, somatic event in most parathyroid cancers. 21167377 2010
CUI: C1704981
Disease: Hyperparathyroidism-Jaw Tumor Syndrome
Hyperparathyroidism-Jaw Tumor Syndrome 		0.800 GeneticVariation disease BEFREE Hyperparathyroidism-jaw tumor syndrome: the HRPT2 locus is within a 0.7-cM region on chromosome 1q. 9973288 1999
CUI: C1704981
Disease: Hyperparathyroidism-Jaw Tumor Syndrome
Hyperparathyroidism-Jaw Tumor Syndrome 		0.800 Biomarker disease BEFREE Mutations of the HRPT2 gene, which encodes parafibromin, are responsible for the development of the hyperparathyroidism-jaw tumor syndrome and have also been implicated in the development of a high proportion of sporadic PTCAs. 19058032 2008
CUI: C1704981
Disease: Hyperparathyroidism-Jaw Tumor Syndrome
Hyperparathyroidism-Jaw Tumor Syndrome 		0.800 Biomarker disease BEFREE Parafibromin is a protein encoded by the HRPT2 (hyperparathyroidism 2) oncosuppressor gene and its down-regulated expression is involved in pathogenesis of parathyroid, breast, gastric and colorectal carcinomas. 23991985 2013
CUI: C1704981
Disease: Hyperparathyroidism-Jaw Tumor Syndrome
Hyperparathyroidism-Jaw Tumor Syndrome 		0.800 GeneticVariation disease UNIPROT HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. 12434154 2002
CUI: C1704981
Disease: Hyperparathyroidism-Jaw Tumor Syndrome
Hyperparathyroidism-Jaw Tumor Syndrome 		0.800 Biomarker disease BEFREE Parafibromin is a protein encoded by hyperparathyroidism 2, and its down-regulated expression is involved in the pathogenesis of parathyroid, breast, and gastric carcinomas. 21315421 2011
CUI: C1704981
Disease: Hyperparathyroidism-Jaw Tumor Syndrome
Hyperparathyroidism-Jaw Tumor Syndrome 		0.800 Biomarker disease BEFREE Inactivation of parafibromin predisposes one to the development of HPT-JT syndrome. 16989776 2006
CUI: C1704981
Disease: Hyperparathyroidism-Jaw Tumor Syndrome
Hyperparathyroidism-Jaw Tumor Syndrome 		0.800 GeneticVariation disease BEFREE The finding that two of the seven patients with sporadic parathyroid cancer carried an HRPT2 germline mutation suggests that they might have occult HPT-JT. 15531515 2004
CUI: C1704981
Disease: Hyperparathyroidism-Jaw Tumor Syndrome
Hyperparathyroidism-Jaw Tumor Syndrome 		0.800 GeneticVariation disease UNIPROT The HPT-JT syndrome and FIHP are autosomal dominant disorders that may be caused by abnormalities of the HRPT2 gene, located on chromosome 1q31.2. 16487440 2006
CUI: C1704981
Disease: Hyperparathyroidism-Jaw Tumor Syndrome
Hyperparathyroidism-Jaw Tumor Syndrome 		0.800 Biomarker disease BEFREE Parafibromin is a predominantly nuclear protein with a tumour suppressor role in the development of hereditary and nonhereditary parathyroid carcinomas, and the hyperparathyroidism-jaw tumour syndrome, which is associated with renal and uterine tumours. 19522828 2009
CUI: C1704981
Disease: Hyperparathyroidism-Jaw Tumor Syndrome
Hyperparathyroidism-Jaw Tumor Syndrome 		0.800 GeneticVariation disease BEFREE Clinical features of HPT-JT syndrome were detected in 13 of the 15 carriers with germline CDC73 mutations. 21652691 2011
CUI: C1704981
Disease: Hyperparathyroidism-Jaw Tumor Syndrome
Hyperparathyroidism-Jaw Tumor Syndrome 		0.800 Biomarker disease BEFREE Parafibromin, product of the hyperparathyroidism-jaw tumor syndrome gene HRPT2, regulates cyclin D1/PRAD1 expression. 15580289 2005
CUI: C1704981
Disease: Hyperparathyroidism-Jaw Tumor Syndrome
Hyperparathyroidism-Jaw Tumor Syndrome 		0.800 Biomarker disease CLINGEN Mice deleted for cell division cycle 73 gene develop parathyroid and uterine tumours: model for the hyperparathyroidism-jaw tumour syndrome. 28288139 2017
CUI: C1704981
Disease: Hyperparathyroidism-Jaw Tumor Syndrome
Hyperparathyroidism-Jaw Tumor Syndrome 		0.800 GeneticVariation disease BEFREE The molecular signature of these neoplasms is still unknown and the germline CDC73 mutations appears to be the most common anomaly in this setting suggesting that these cases might represents variants of the hyperparathyroidism-jaw tumor syndrome. 31085770 2019
CUI: C1704981
Disease: Hyperparathyroidism-Jaw Tumor Syndrome
Hyperparathyroidism-Jaw Tumor Syndrome 		0.800 Biomarker disease BEFREE The similar loss of parafibromin immunoreactivity in HPT-JT syndrome-related adenomas suggests that this is a pivotal step in parathyroid tumorigenesis. 15475453 2004