Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.100 Biomarker disease BEFREE A 57-year-old man with symptoms of fatigue, joint pains and insomnia was found to have hypercalcaemia secondary to hyperparathyroidism with a corrected calcium of 2.61 mmol/L (2.2-2.6 mmol/L) and a serum parathyroid hormone (PTH) of 86 pg/mL (10-65 pg/mL). 25320261 2014
Entrez Id: 2235
Gene Symbol: FECH
FECH
0.010 Biomarker disease BEFREE A comprehensive computer literature search of PubMed/MEDLINE, EMBASE and Cochrane Library databases for studies published through May 2018 was performed using the following search algorithm: (a) "choline" or "fluorocholine" or "F-choline" or "C-choline" or "FCH" or "CH" or "FECH" or "FMCH" and (b) "PET" or "positron emission tomography" and (c) "parathyroid" or "hyperparathyroidism". 30094461 2019
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.100 Biomarker disease BEFREE A diagnostic label of normocalcaemic hyperparathyroidism (NPHPT) has been given to this phenotype and in most such individuals, the initial PTH measurement is driven by the presence of metabolic bone disease. 29437827 2018
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
0.010 GeneticVariation disease BEFREE A favorable effect on GFR of MTHFR polymorphism is presented independently by the negative effects of LVH, increased intra-renal arterial resistance, and hyperparathyroidism; GFR is the significant predictive factor to LVH. 23534584 2013
Entrez Id: 79577
Gene Symbol: CDC73
CDC73
0.400 GeneticVariation disease BEFREE A novel CDC73 gene mutation in an Italian family with hyperparathyroidism-jaw tumour (HPT-JT) syndrome. 25113791 2014
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.100 Biomarker disease BEFREE A Novel Interplay Between Irisin and PTH: From Basic Studies to Clinical Evidence in Hyperparathyroidism. 30759249 2019
Entrez Id: 846
Gene Symbol: CASR
CASR
0.700 GeneticVariation disease BEFREE A total of 21 patients were evaluated, seven of them with idiopathic hypoparathyroidism (suspected ADHH) and 14 with hyperparathyroidism (suspected FHH). 25091521 2015
Entrez Id: 8074
Gene Symbol: FGF23
FGF23
0.060 Biomarker disease BEFREE After kidney transplantation, fibroblast growth factor-23 (FGF-23) normally returns to baseline within 1 year whereas hyperparathyroidism persists in most kidney transplant (KT) recipients. 27981393 2017
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.100 Biomarker disease BEFREE After transplantation, persistent hyperparathyroidism (parathyroid hormone > 130 ng/L) and bone turnover markers were significantly reduced in group 2. 27547867 2017
Entrez Id: 5979
Gene Symbol: RET
RET
0.200 Biomarker disease BEFREE Among rearranged during transfection-positive patients, pheochromocytoma manifested in 35.1% and hyperparathyroidism in 7.0%. 29779869 2018
Entrez Id: 5979
Gene Symbol: RET
RET
0.200 GeneticVariation disease BEFREE Among the members of the three families with MEN 2A and RET 634 mutation, the incidence of CLA was 36%, a figure similar to that reported in the literature for phaeochromocytoma (30-50%) and even higher than that for hyperparathyroidism (10-20%). 12864791 2003
Entrez Id: 846
Gene Symbol: CASR
CASR
0.700 GeneticVariation disease LHGDN An acceptor splice site mutation in the calcium-sensing receptor (CASR) gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. 11668634 2001
Entrez Id: 79577
Gene Symbol: CDC73
CDC73
0.400 GeneticVariation disease LHGDN An unacceptable recurrence/persistence rate (80%) associated with increasingly difficult re-operations and risk of parathyroid carcinoma in the setting of germline mutations of HRPT2 gene with familial hyperparathyroidism suggest that a more aggressive operative approach should be undertaken in these patients. 18436011 2008
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
0.010 Biomarker disease BEFREE As P-gp and GST-π expressions were higher in tissues resected from control compared with HPT patients, Tc-MIBI may wash out faster from normal parathyroid tissue surrounding the lesion compared with the lesion itself, facilitating detection. 28806349 2017
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
0.300 Biomarker disease CTD_human Association between parathyroid hormone (PTH)/PTH-related peptide receptor gene polymorphism and the extent of bone mass reduction in primary hyperparathyroidism. 11014383 2000
Entrez Id: 846
Gene Symbol: CASR
CASR
0.700 Biomarker disease CTD_human Association of polymorphic alleles of the calcium-sensing receptor gene with the clinical severity of primary hyperparathyroidism. 11589681 2001
Entrez Id: 3569
Gene Symbol: IL6
IL6
0.020 AlteredExpression disease BEFREE Because IL-6 is also expressed in normal parathyroids and in other endocrine cells (adrenal and islet), we hypothesized that parathyroid tumours might contribute directly to the elevated serum IL-6 levels in patients with hyperparathyroidism. 15030526 2004
Entrez Id: 4221
Gene Symbol: MEN1
MEN1
0.400 Biomarker disease BEFREE Bilateral neck exploration with subtotal parathyroidectomy or total parathyroidectomy + autotransplantation should be performed, especially in MEN 1, in order to decrease the persistent and recurrent hyperparathyroidism rates; in some variants (MEN 2A, HPT-JT), limited parathyroidectomy can achieve long-term normocalcemia. 26450137 2015
Entrez Id: 9365
Gene Symbol: KL
KL
0.020 Biomarker disease BEFREE Bone loss and increased fracture are the devastating outcomes of chronic kidney disease-mineral and bone disorder (CKD-MBD) resulting from Klotho deficit-related mineral disturbance and hyperparathyroidism. 28387374 2017
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.100 Biomarker disease BEFREE Both groups had a similar degree of pre-existing hyperparathyroidism (197 +/- 229 vs. 191 +/- 183 pg/mL), but a more pronounced decrease of parathyroid hormone (PTH) levels after RT was observed in CT patients (at 3 months: 61.4 +/- 42.2 vs. 85.7 +/- 53.1 pg/mL, P= 0.02; at 12 months: 67.3 +/- 33.7 vs. 82.6 +/- 37 pg/mL; P= 0.08). 14717945 2004
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.200 GeneticVariation disease BEFREE BsmI vitamin D receptor (VDR) gene polymorphism has been associated with the severity of hyperparathyroidism in patients on hemodialysis. 10504487 1999
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.200 GeneticVariation disease BEFREE BsmI polymorphism of the vitamin D receptor gene has been linked to hyperparathyroidism severity and calcitriol levels. 11522087 2001
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.100 Biomarker disease BEFREE But, no study has yet demonstrated the effects of excess continuous PTH exposure, such as that seen in hyperparathyroidism, for fracture healing. 30181648 2018
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.100 Biomarker disease BEFREE Catabolic Effects of Human PTH (1-34) on Bone: Requirement of Monocyte Chemoattractant Protein-1 in Murine Model of Hyperparathyroidism. 29127344 2017
Entrez Id: 138428
Gene Symbol: PTRH1
PTRH1
0.010 Biomarker disease BEFREE Catabolic Effects of Human PTH (1-34) on Bone: Requirement of Monocyte Chemoattractant Protein-1 in Murine Model of Hyperparathyroidism. 29127344 2017