Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4221
Gene Symbol: MEN1
MEN1
0.200 Biomarker disease HPO
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.200 CausalMutation disease CLINVAR
Entrez Id: 846
Gene Symbol: CASR
CASR
0.200 Biomarker disease HPO
Entrez Id: 79577
Gene Symbol: CDC73
CDC73
0.200 Biomarker disease HPO
Entrez Id: 9247
Gene Symbol: GCM2
GCM2
0.150 Biomarker disease HPO
Entrez Id: 1027
Gene Symbol: CDKN1B
CDKN1B
0.150 CausalMutation disease CLINVAR
Entrez Id: 2767
Gene Symbol: GNA11
GNA11
0.130 Biomarker disease HPO
Entrez Id: 1175
Gene Symbol: AP2S1
AP2S1
0.120 Biomarker disease HPO
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.200 Biomarker disease BEFREE <b>Abbreviations: BNE</b> = bilateral neck exploration; <b>CT</b> = computed tomography; <b>IOPTH</b> = intra-operative parathyroid hormone; <b>MGD</b> = multi-gland disease; <b>MIBI</b> = sestamibi; <b>MIP</b> = minimally invasive parathyroidectomy; <b>MRI</b> = magnetic resonance imaging; <b>PHPT</b> = primary hyperparathyroidism; <b>PTA</b> = parathyroid adenoma; <b>PTH</b> = parathyroid hormone; <b>SGA</b> = single-gland adenoma; <b>SPECT</b> = single photon emission computed tomography; <b>4D</b> = four-dimensional. 30720353 2019
Entrez Id: 2638
Gene Symbol: GC
GC
0.010 AlteredExpression disease BEFREE <b>Objective:</b> To evaluate vitamin D binding protein and free 25-hydroxyvitamin D [25(OH)D] levels in healthy controls compared to primary hyperparathyroidism (PHPT) patients, and to examine PHPT before and after surgery. 30972023 2019
Entrez Id: 57862
Gene Symbol: ZNF410
ZNF410
0.010 GeneticVariation disease BEFREE 1,25-dihydroxyvitamin D and the vitamin D receptor gene polymorphism Apa1 influence bone mineral density in primary hyperparathyroidism. 23418495 2013
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.200 Biomarker disease BEFREE 25(OH)D = 25-hydroxyvitamin D BMI = body mass index DBP = vitamin D-binding protein iPTH = intact parathyroid hormone PHPT = primary hyperparathyroidism. 27682354 2017
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.200 GeneticVariation disease BEFREE Primary hyperparathyroidism (HPT), most commonly due to parathyroid adenoma, is a disorder characterized by excessive secretion of PTH. 10704427 2000
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.200 Biomarker disease BEFREE Primary hyperparathyroidism (pHPT) is characterized by excessive production of parathyroid hormone (PTH) due to parathyroid adenomas while uremic secondary HPT (sHPT) is caused by parathyroid hyperplasia in response to renal failure. 12444900 2002
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.200 Biomarker disease BEFREE Primary hyperparathyroidism is a common endocrine disorder caused by parathyroid gland enlargement and excessive parathyroid hormone (PTH) secretion. 15026366 2004
Entrez Id: 5979
Gene Symbol: RET
RET
0.100 GeneticVariation disease BEFREE Primary hyperparathyroidism as the leading symptom in a patient with a Y791F RET mutation. 16356097 2005
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.200 GeneticVariation disease BEFREE Primary hyperparathyroidism (PHP; serum calcium 2.75 mmol/L, PTH 226 pg/ml) had been the first clinical manifestation of MEN-2A in a female patient (aged 55 years) with a mutation (Y791F, TAT-->TTT) in exon 13 of the RET proto-oncogene. 16356097 2005
Entrez Id: 6898
Gene Symbol: TAT
TAT
0.010 GeneticVariation disease BEFREE Primary hyperparathyroidism (PHP; serum calcium 2.75 mmol/L, PTH 226 pg/ml) had been the first clinical manifestation of MEN-2A in a female patient (aged 55 years) with a mutation (Y791F, TAT-->TTT) in exon 13 of the RET proto-oncogene. 16356097 2005
Entrez Id: 846
Gene Symbol: CASR
CASR
0.200 GeneticVariation disease BEFREE Primary hyperparathyroidism and the presence of kidney stones are associated with different haplotypes of the calcium-sensing receptor. 17018660 2007
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.200 Biomarker disease BEFREE Primary hyperparathyroidism (PHPT) results from excessive secretion of parathyroid hormone (PTH), and catabolic and anabolic effects of PTH on bone may lead to overall deleterious effects on skeleton. 17656570 2007
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.200 Biomarker disease BEFREE Primary hyperparathyroidism is a common disorder that involves the pathological enlargement of one or more parathyroid glands resulting in excessive production of parathyroid hormone (PTH). 20175455 2009
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.200 Biomarker disease BEFREE Primary hyperparathyroidism (HPT) results from the excessive secretion of parathyroid hormone from parathyroid tumours. 20833339 2010
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.200 Biomarker disease BEFREE Primary hyperparathyroidism (HPT) is characterised by autonomous secretion of PTH from enlarged parathyroid glands leading, in most patients, to asymptomatic hypercalcaemia. 21521328 2011
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.200 Biomarker disease BEFREE Primary hyperparathyroidism (PHPT) is characterised by increased production of parathyroid hormone (PTH) resulting in elevated serum calcium levels. 21698093 2011
Entrez Id: 846
Gene Symbol: CASR
CASR
0.200 GeneticVariation disease BEFREE Primary hyperparathyroidism in a patient with familial hypocalciuric hypercalcaemia due to a novel mutation in the calcium-sensing receptor gene. 23081733 2013