Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5741
Gene Symbol: PTH
PTH
CUI: C0030517
Disease: Parathyroid Diseases
Parathyroid Diseases
0.060 Biomarker BEFREE Elevated serum parathyroid hormone (PTH) is associated with increased risk of cardiovascular death, including sudden cardiac death, in patients with and without parathyroid disease. 28949082

2018

Entrez Id: 5741
Gene Symbol: PTH
PTH
CUI: C0030517
Disease: Parathyroid Diseases
Parathyroid Diseases
0.060 AlteredExpression BEFREE There are a considerable number of patients with concomitant thyroid and parathyroid disease; this justifies the routine analyses of calcemia and PTH level in patients preparing for thyroidectomy, and sets up the ground for the thyroid investigations in HPT. 27619822

2017

Entrez Id: 5741
Gene Symbol: PTH
PTH
CUI: C0030517
Disease: Parathyroid Diseases
Parathyroid Diseases
0.060 GeneticVariation BEFREE Therefore, we sought to rigorously examine the PTH 3'-UTR in patients with primary and secondary parathyroid disorders, including primary parathyroid hyperplasia, secondary parathyroid hyperplasia, sporadic parathyroid adenoma and familial hypoparathyroidism of unknown genetic basis. 17121534

2006

Entrez Id: 5741
Gene Symbol: PTH
PTH
CUI: C0030517
Disease: Parathyroid Diseases
Parathyroid Diseases
0.060 Biomarker BEFREE Hyperparathyroidism refers to a term representing a wide spectrum of parathyroid disorders that are characterized by the increased production of parathyroid hormone. 9736402

1998

Entrez Id: 5741
Gene Symbol: PTH
PTH
CUI: C0030517
Disease: Parathyroid Diseases
Parathyroid Diseases
0.060 GeneticVariation BEFREE In addition, our identification of a microsatellite polymorphism of the PTH gene should help further segregation studies of this locus in families with parathyroid disorders. 8478012

1993

Entrez Id: 5741
Gene Symbol: PTH
PTH
CUI: C0030517
Disease: Parathyroid Diseases
Parathyroid Diseases
0.060 Biomarker BEFREE DNA patterns in parathyroid disease predict postoperative parathyroid hormone secretion. 3194838

1988

Entrez Id: 79577
Gene Symbol: CDC73
CDC73
CUI: C0030517
Disease: Parathyroid Diseases
Parathyroid Diseases
0.040 GeneticVariation BEFREE Subsequently, bi-allelic inactivation or mutation of HRPT2 has been reported in the majority of parathyroid carcinomas that actually behave in a malignant manner but very rarely in sporadic benign parathyroid disease. 24402736

2014

Entrez Id: 79577
Gene Symbol: CDC73
CDC73
CUI: C0030517
Disease: Parathyroid Diseases
Parathyroid Diseases
0.040 Biomarker BEFREE Parafibromin immunohistochemistry may serve as a cost-effective screen for HRPT2-related aggressive parathyroid disease. 18436011

2008

Entrez Id: 79577
Gene Symbol: CDC73
CDC73
CUI: C0030517
Disease: Parathyroid Diseases
Parathyroid Diseases
0.040 GeneticVariation BEFREE Surveillance for early detection of aggressive parathyroid disease: carcinoma and atypical adenoma in familial isolated hyperparathyroidism associated with a germline HRPT2 mutation. 16995822

2006

Entrez Id: 79577
Gene Symbol: CDC73
CDC73
CUI: C0030517
Disease: Parathyroid Diseases
Parathyroid Diseases
0.040 Biomarker BEFREE Familial isolated hyperparathyroidism (FIHP) is a hereditary disorder characterised by uni- or multiglandular parathyroid disease. 12213668

2002

Entrez Id: 4221
Gene Symbol: MEN1
MEN1
CUI: C0030517
Disease: Parathyroid Diseases
Parathyroid Diseases
0.020 Biomarker BEFREE In contrast, hypermethylation was observed at CpG sites 24-31 in MEN 1 patients, a pattern not observed in patients with non-MEN 1 parathyroid disease. 30149991

2018

Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C0030517
Disease: Parathyroid Diseases
Parathyroid Diseases
0.020 Biomarker BEFREE We identified and recruited patients with phenotypes suggestive of CaSR-related parathyroid disorders. 25091521

2015

Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C0030517
Disease: Parathyroid Diseases
Parathyroid Diseases
0.020 AlteredExpression BEFREE However, CaSR expression is highly variable in parathyroid adenomas, and the lack of correlation between CaSR abundance and calcium-responsive PTH kinetics indicates that mechanisms independent of CaSR expression may contribute to aberrant calcium sensing in parathyroid disease. 21393447

2011

Entrez Id: 4221
Gene Symbol: MEN1
MEN1
CUI: C0030517
Disease: Parathyroid Diseases
Parathyroid Diseases
0.020 Biomarker BEFREE An understanding of the functions of MENIN will provide further insights into parathyroid disease. 11706744

2000

Entrez Id: 796
Gene Symbol: CALCA
CALCA
CUI: C0030517
Disease: Parathyroid Diseases
Parathyroid Diseases
0.020 AlteredExpression BEFREE We investigated prevalence and interrelationship of C-cell hyperplasia (CCH) and medullary thyroid carcinoma (MTC) in patients with thyroid and parathyroid disorders that showed increased calcitonin serum levels detected by routine screening. 9630179

1998

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0030517
Disease: Parathyroid Diseases
Parathyroid Diseases
0.020 GeneticVariation BEFREE These data show a low frequency of hyperparathyroidism in our cases and provide further evidence that individuals with C634R as well as with C634Y mutations of the RET proto-oncogene could be at risk for parathyroid disease. 9820617

1998

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0030517
Disease: Parathyroid Diseases
Parathyroid Diseases
0.020 GeneticVariation BEFREE Secondly, 20 archival parathyroid adenomas were screened for somatic mutations in the transmembrane region of RET, the region associated with germline mutations in MEN2A and hence parathyroid disease, using a PCR-solid phase direct sequencing approach. 8976870

1996

Entrez Id: 796
Gene Symbol: CALCA
CALCA
CUI: C0030517
Disease: Parathyroid Diseases
Parathyroid Diseases
0.020 Biomarker BEFREE The normal iPTH suppressibility in MEN 2b is consistent with the concept that the parathyroid disease in MEN 2a is genetically determined, and not secondary to MTC and high plasma calcitonin concentration. 950371

1976

Entrez Id: 3479
Gene Symbol: IGF1
IGF1
CUI: C0030517
Disease: Parathyroid Diseases
Parathyroid Diseases
0.010 Biomarker BEFREE Currently, the clinical importance TBS was verified in terms of disorders of the growth hormone/insulin-like growth factor 1 (GH/IGF-I) axis, glucocorticoid excess, thyroid and parathyroid disease, as well as in diabetes mellitus type 1 and 2. 31489959

2019

Entrez Id: 5763
Gene Symbol: PTMS
PTMS
CUI: C0030517
Disease: Parathyroid Diseases
Parathyroid Diseases
0.010 Biomarker BEFREE Management of parathyroid disorders is challenging, and PARAT has highlighted the need for international transdisciplinary scientific and educational studies in advancing in this field. 31176307

2019

Entrez Id: 9247
Gene Symbol: GCM2
GCM2
CUI: C0030517
Disease: Parathyroid Diseases
Parathyroid Diseases
0.010 GeneticVariation BEFREE Mutations in the Gcm2 gene as well as in several other genes involved in parathyroid organogenesis have been found to cause parathyroid disorders in humans. 30390809

2018

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0030517
Disease: Parathyroid Diseases
Parathyroid Diseases
0.010 GeneticVariation BEFREE On multivariate analysis, parathyroid disease subtype, baseline leptin levels, age, body mass index, and calcium at diagnosis was associated with changes in leptin. 24468228

2014

Entrez Id: 4914
Gene Symbol: NTRK1
NTRK1
CUI: C0030517
Disease: Parathyroid Diseases
Parathyroid Diseases
0.010 Biomarker BEFREE This compound appears to be appropriate for further development as a molecular imaging tool to enhance the surgical treatment of parathyroid disease and MTC. 24238055

2013

Entrez Id: 1027
Gene Symbol: CDKN1B
CDKN1B
CUI: C0030517
Disease: Parathyroid Diseases
Parathyroid Diseases
0.010 GeneticVariation BEFREE Recently, germline mutations in p27kip1 were also identified in patients with a sporadic parathyroid disease presentation. 23652671

2013

Entrez Id: 4489
Gene Symbol: MT1A
MT1A
CUI: C0030517
Disease: Parathyroid Diseases
Parathyroid Diseases
0.010 Biomarker BEFREE This compound appears to be appropriate for further development as a molecular imaging tool to enhance the surgical treatment of parathyroid disease and MTC. 24238055

2013