Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
HYPERPARATHYROIDISM 1
CUI: C1840402
Disease: HYPERPARATHYROIDISM 1
0.800 GeneticVariation UNIPROT Clinical, genetic, and histopathologic investigation of CDC73-related familial hyperparathyroidism. 18755853 2008
HYPERPARATHYROIDISM 1
CUI: C1840402
Disease: HYPERPARATHYROIDISM 1
0.800 GeneticVariation UNIPROT Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours. 16487440 2006
HYPERPARATHYROIDISM 1
CUI: C1840402
Disease: HYPERPARATHYROIDISM 1
0.800 GeneticVariation UNIPROT The parafibromin tumor suppressor protein is part of a human Paf1 complex. 15632063 2005
HYPERPARATHYROIDISM 1
CUI: C1840402
Disease: HYPERPARATHYROIDISM 1
0.800 GeneticVariation UNIPROT HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours. 12960210 2003
HYPERPARATHYROIDISM 1
CUI: C1840402
Disease: HYPERPARATHYROIDISM 1
0.800 GeneticVariation UNIPROT HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. 12434154 2002
HYPERPARATHYROIDISM 1
CUI: C1840402
Disease: HYPERPARATHYROIDISM 1
0.800 CausalMutation CLINVAR
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.010 GeneticVariation BEFREE PGP9.5 was positive in a tumor with the HRPT2 mutation L64P that expressed parafibromin. 19017757 2009
Parathyroid Gland Adenocarcinoma
CUI: C0687150
Disease: Parathyroid Gland Adenocarcinoma
0.010 GeneticVariation BEFREE Transient overexpression of wild-type parafibromin, but not its Leu64Pro missense mutant implicated in parathyroid cancer and familial isolated hyperparathyroidism, inhibited cell proliferation, and blocked expression of cyclin D1, a key cell cycle regulator previously implicated in parathyroid neoplasia. 15580289 2005
Familial Isolated Hyperparathyroidism
CUI: C4551961
Disease: Familial Isolated Hyperparathyroidism
0.010 GeneticVariation BEFREE Transient overexpression of wild-type parafibromin, but not its Leu64Pro missense mutant implicated in parathyroid cancer and familial isolated hyperparathyroidism, inhibited cell proliferation, and blocked expression of cyclin D1, a key cell cycle regulator previously implicated in parathyroid neoplasia. 15580289 2005
Parathyroid Neoplasms
CUI: C0030521
Disease: Parathyroid Neoplasms
0.010 GeneticVariation BEFREE Transient overexpression of wild-type parafibromin, but not its Leu64Pro missense mutant implicated in parathyroid cancer and familial isolated hyperparathyroidism, inhibited cell proliferation, and blocked expression of cyclin D1, a key cell cycle regulator previously implicated in parathyroid neoplasia. 15580289 2005
Malignant tumor of parathyroid gland
CUI: C0153653
Disease: Malignant tumor of parathyroid gland
0.010 GeneticVariation BEFREE Transient overexpression of wild-type parafibromin, but not its Leu64Pro missense mutant implicated in parathyroid cancer and familial isolated hyperparathyroidism, inhibited cell proliferation, and blocked expression of cyclin D1, a key cell cycle regulator previously implicated in parathyroid neoplasia. 15580289 2005