CDC73, cell division cycle 73, 79577

N. diseases: 144; N. variants: 31
Disease: HYPERPARATHYROIDISM 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1840402
Disease: HYPERPARATHYROIDISM 1
HYPERPARATHYROIDISM 1 		0.700 Biomarker disease GENOMICS_ENGLAND Molecular genetics in primary hyperparathyroidism: the role of genetic tests in differential diagnosis, disease prevention strategy, and therapeutic planning. A 2017 update. 28740527 2019
CUI: C1840402
Disease: HYPERPARATHYROIDISM 1
HYPERPARATHYROIDISM 1 		0.700 GeneticVariation disease UNIPROT Clinical, genetic, and histopathologic investigation of CDC73-related familial hyperparathyroidism. 18755853 2008
CUI: C1840402
Disease: HYPERPARATHYROIDISM 1
HYPERPARATHYROIDISM 1 		0.700 GeneticVariation disease UNIPROT Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours. 16487440 2006
CUI: C1840402
Disease: HYPERPARATHYROIDISM 1
HYPERPARATHYROIDISM 1 		0.700 GeneticVariation disease UNIPROT The parafibromin tumor suppressor protein is part of a human Paf1 complex. 15632063 2005
CUI: C1840402
Disease: HYPERPARATHYROIDISM 1
HYPERPARATHYROIDISM 1 		0.700 GeneticVariation disease UNIPROT HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours. 12960210 2003
CUI: C1840402
Disease: HYPERPARATHYROIDISM 1
HYPERPARATHYROIDISM 1 		0.700 GeneticVariation disease UNIPROT HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. 12434154 2002
CUI: C1840402
Disease: HYPERPARATHYROIDISM 1
HYPERPARATHYROIDISM 1 		0.700 CausalMutation disease CLINVAR
CUI: C1840402
Disease: HYPERPARATHYROIDISM 1
HYPERPARATHYROIDISM 1 		0.700 Biomarker disease CTD_human
CUI: C1840402
Disease: HYPERPARATHYROIDISM 1
HYPERPARATHYROIDISM 1 		0.700 GeneticVariation disease CLINVAR