CDC73, cell division cycle 73, 79577

N. diseases: 144; N. variants: 31
Disease: Familial Isolated Hyperparathyroidism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551961
Disease: Familial Isolated Hyperparathyroidism
Familial Isolated Hyperparathyroidism 		0.600 GeneticVariation disease BEFREE We investigated 32 families with FIHP to determine the frequency of occult mutation in HRPT2, the gene causing HPT-JT. 14715834 2004
CUI: C4551961
Disease: Familial Isolated Hyperparathyroidism
Familial Isolated Hyperparathyroidism 		0.600 Biomarker disease BEFREE Our results also confirm the need for testing HRPT2 gene in FIHP families. 15531515 2004
CUI: C4551961
Disease: Familial Isolated Hyperparathyroidism
Familial Isolated Hyperparathyroidism 		0.600 Biomarker disease BEFREE Familial isolated hyperparathyroidism (FIHP) is an autosomal dominant disorder characterized by uniglandular or multiglandular parathyroid tumours that occur in the absence of other endocrine tumours. 12699448 2003
CUI: C4551961
Disease: Familial Isolated Hyperparathyroidism
Familial Isolated Hyperparathyroidism 		0.600 Biomarker disease BEFREE Familial isolated hyperparathyroidism (FIHP) is a hereditary disorder characterised by uni- or multiglandular parathyroid disease. 12213668 2002
CUI: C4551961
Disease: Familial Isolated Hyperparathyroidism
Familial Isolated Hyperparathyroidism 		0.600 GeneticVariation disease BEFREE In conclusion, we found that the hyperparathyroidism traits in a subset of FIHP families are linked to the 1q21-32 markers in the HRPT2 region. 9626148 1998
CUI: C4551961
Disease: Familial Isolated Hyperparathyroidism
Familial Isolated Hyperparathyroidism 		0.600 Biomarker disease BEFREE Familial isolated hyperparathyroidism (FIHP) is a rare heritable disorder characterized by hypercalcemia, inappropriately high PTH levels, and isolated parathyroid tumors with no evidence of hyperfunction of any other endocrine tissues. 7903311 1993
CUI: C4551961
Disease: Familial Isolated Hyperparathyroidism
Familial Isolated Hyperparathyroidism 		0.600 Biomarker disease CTD_human