Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79577
Gene Symbol: CDC73
CDC73
0.200 Biomarker disease BEFREE Familial isolated hyperparathyroidism (FIHP) is a rare inherited disease accounting for 1% of all cases of primary hyperparathyroidism (PHPT). 31486992 2020
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.200 Biomarker disease BEFREE Primary hyperparathyroidism (PHPT) is a common endocrine disorder characterised by hypercalcaemia and parathormone increase. 30459009 2020
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.200 AlteredExpression disease BEFREE We assessed if cerebrovascular function is impaired in PHPT, improves post-parathyroidectomy and is associated with PTH level and cognitive dysfunction. 31621051 2020
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.200 GeneticVariation disease BEFREE Recently, normocalcemic (NC) and normohormonal (NH) variants of primary hyperparathyroidism (pHPT) have been described, with distinct biochemical profiles from the typical high serum calcium and parathyroid hormone (PTH) levels. 31511943 2020
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.200 GeneticVariation disease BEFREE LNP patients had a milder form of pHPT (Ca<sup>2+</sup> 2.63 vs. 2.68 P < 0.05) with a smaller PTH and Ca<sup>2+</sup> drop post-operatively. 31773224 2020
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.200 Biomarker disease BEFREE An abnormal parathyroid was defined by a gland weight of ≥50 mg. A concurrent serum calcium >10.2 mg/dL and parathyroid hormone >40 pg/mL was defined as persistent PHPT if present <6 mo and recurrent PHPT if present ≥6 mo postoperatively after initial normocalcemia. 31635835 2020
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.200 Biomarker disease BEFREE Primary hyperparathyroidism (PHPT) is a common endocrine disorder, resulting from the autonomous production of parathyroid hormone from 1 or more abnormal parathyroid glands. 31255197 2019
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.200 Biomarker disease BEFREE Original articles reporting complications and diagnostic performance of FNA-PTH in biochemically and histopathologically diagnosed PHPT were selected. 31311003 2019
Entrez Id: 79577
Gene Symbol: CDC73
CDC73
0.200 GeneticVariation disease BEFREE Herein, we report a familial case of a whole germline CDC73 deletion discordant for PHPT. 30739106 2019
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.200 Biomarker disease BEFREE The primary cause of PHPT is a benign overgrowth of parathyroid tissue causing excessive secretion of parathyroid hormone. 30979723 2019
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.200 Biomarker disease BEFREE The increasing use of serum PTH assay in the set of the diagnostic workout in patients with osteoporosis has identified patients with features of surgically confirmed primary hyperparathyroidism (PHPT) associated with persistent normal serum calcium levels, which has been recognized as a distinct entity from hypercalcemic PHPT (HPHPT) by the last international consensus. 30641527 2019
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.200 Biomarker disease BEFREE Minimally Invasive Parathyroidectomy without Intraoperative PTH Performed after Positive Ultrasonography as the only Diagnostic Method in Patients with Primary Hyperparathyroidism. 30847526 2019
Entrez Id: 4221
Gene Symbol: MEN1
MEN1
0.200 Biomarker disease BEFREE MEN1-associated primary hyperparathyroidism in the Spanish registry: clinical characteristics and surgical outcomes. 31557724 2019
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.200 Biomarker disease BEFREE Importance of Parathyroid Hormone Needle Aspiration Washout in Adenoma Localization in Primary Hyperparathyroidism. 30834899 2019
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.200 AlteredExpression disease BEFREE Primary hyperparathyroidism (pHPT) is the third most common endocrine disease and is characterized by hypercalcaemia and elevated or inappropriately 'normal' levels of the parathyroid hormone (PTH). 30289185 2019
Entrez Id: 4221
Gene Symbol: MEN1
MEN1
0.200 GeneticVariation disease BEFREE Rates of MGD in MEN1 (82.35%) were significantly higher than in spHPT (3.8%), while there was no significant difference between LIHPT (20%) and spHPT. 31412376 2019
Entrez Id: 846
Gene Symbol: CASR
CASR
0.200 GeneticVariation disease BEFREE To illustrate investigations and management of parathyroid-related hypercalcaemia, we present a selection of distinct cases of PHPT due to eutopic and ectopic parathyroid adenomas, as well as a case with a syndromic form of PHPT (multiple endocrine neoplasia type 1), and a case with FHH type 1 due to a CASR inactivating mutation. 31797261 2019
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.200 Biomarker disease BEFREE Primary hyperparathyroidism (PHPT) is a common endocrine disorder characterized by dysregulation of parathyroid hormone release. 30475215 2019
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.200 Biomarker disease BEFREE Intraoperative parathyroid hormone testing in primary hyperparathyroidism surgery: time for giving up? 30357494 2019
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.200 Biomarker disease BEFREE Their regression after PTH reduction suggested the diagnosis of brown tumors due to severe HPT. 30905030 2019
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.200 Biomarker disease BEFREE Among patients with Ca/P ratio above 3.56, the thresholds of 10.3 mg/dL (2.6 mmol/L) for serum Ca (sensitivity 93%; specificity 98%) and 80.5 pg/mL for PTH (sensitivity 91%; specificity 91%) were defined for the specific diagnosis of PHPT. 30796757 2019
Entrez Id: 4221
Gene Symbol: MEN1
MEN1
0.200 GeneticVariation disease BEFREE Pituitary adenomas, PHPT and pNENs are encountered in the paediatric and young adult MEN 1 population. 31348545 2019
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.200 Biomarker disease BEFREE Mortality in PHPT was associated with older age (P < 0.008), social deprivation (P = 0.028), and adjusted calcium (P = 0.009) but not independently with PTH at diagnosis. 30916764 2019
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.200 Biomarker disease BEFREE Parathyroid hormone (PTH) related hypercalcaemia is most commonly caused by primary hyperparathyroidism (PHPT) and more rarely by familial hypocalciuric hypercalcaemia (FHH). 31797261 2019
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.200 AlteredExpression disease BEFREE We found a positive correlation of preoperative NLR with calcium and PTH levels in PHPT patients. 31360183 2019