Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2688
Gene Symbol: GH1
GH1
0.400 GeneticVariation disease BEFREE Pseudoacromegaly describes conditions with an acromegaly related physical appearance without abnormalities in the growth hormone (GH) axis. 29327300 2018
Entrez Id: 2688
Gene Symbol: GH1
GH1
0.400 GeneticVariation disease BEFREE Suppressor of cytokine signaling (SOCS) 2, a negative regulator of growth hormone (GH) and insulin-like growth factor 1 (IGF-1), which is associated with acromegaly and cancers, is a promising candidate molecule for treating various diseases. 30343638 2019
Entrez Id: 9049
Gene Symbol: AIP
AIP
0.400 GeneticVariation disease BEFREE We detected chromothripsis-related CNA profiles in two adenoma samples from an AIP mutation-positive patient with acromegaly and a patient with sporadic gigantism. 29474559 2018
Entrez Id: 9049
Gene Symbol: AIP
AIP
0.400 GeneticVariation disease BEFREE Patients harboring <i>AIP</i> mutations usually present with somatotropinomas resulting either in gigantism or young-onset acromegaly. 28427099 2017
Entrez Id: 2688
Gene Symbol: GH1
GH1
0.400 GeneticVariation disease BEFREE Growth hormone (GH) secreting pituitary adenomas are the main cause of acromegaly. 30986651 2019
Entrez Id: 3479
Gene Symbol: IGF1
IGF1
0.400 GeneticVariation disease BEFREE One hundred acromegaly patients on medical therapy (mean age = 47.1 years; SD = 11.96) completed an online preference study evaluating hypothetical patient profiles described in terms of insulin-like growth factor-I (IGF-I) levels, tumor size, comorbid conditions, signs/symptoms, and quality of life (QoL). 30627944 2019
Entrez Id: 3479
Gene Symbol: IGF1
IGF1
0.400 GeneticVariation disease BEFREE An uncontrolled hyperactive GH-IGF-1 axis may play a dominant role in the development of PTC rather than the BRAFV600E mutation in patients with acromegaly. 25329702 2014
Entrez Id: 2688
Gene Symbol: GH1
GH1
0.400 GeneticVariation disease BEFREE Increased secretion of growth hormone leads to gigantism in children and acromegaly in adults; the genetic causes of gigantism and acromegaly are poorly understood. 25470569 2014
Entrez Id: 9049
Gene Symbol: AIP
AIP
0.400 GeneticVariation disease BEFREE Germline mutations of aryl hydrocarbon receptor-interacting protein (AIP) gene and somatostatin receptor 1-5 and AIP immunostaining in patients with sporadic acromegaly with poor versus good response to somatostatin analogues. 29455389 2018
Entrez Id: 9049
Gene Symbol: AIP
AIP
0.400 GeneticVariation disease BEFREE Frequency of AIP gene mutations in young patients with acromegaly: a registry-based study. 25093619 2014
Entrez Id: 3479
Gene Symbol: IGF1
IGF1
0.400 GeneticVariation disease BEFREE Therefore, routine screening of GD should be considered in women with acromegaly, particularly in those with risk factors for GD and with uncontrolled IGF-1 levels before pregnancy. 31520541 2019
Entrez Id: 2688
Gene Symbol: GH1
GH1
0.400 GeneticVariation disease BEFREE The mean age of the 30 acromegaly patients (M/F:14/16) was 47.26 ± 12.52 years (range: 18-64 years) and that of the healthy volunteers (M/F: 17/13) was 44.56 ± 10.74 years (range: 19-62 years).Insulin-like growth factor-1 (IGF-1) and growth hormone (GH) levels were measured using an electrochemiluminescence method, and serum sclerostin levels using an enzyme-linked immunosorbent assay.The Mann-Whitney U test was used to compare sclerostin levels between the two groups. 31821453 2020
Entrez Id: 9049
Gene Symbol: AIP
AIP
0.400 GeneticVariation disease BEFREE Patients with AIP mutations tended to have an earlier onset of acromegaly and harboured larger and more invasive tumours. 27033541 2016
Entrez Id: 2688
Gene Symbol: GH1
GH1
0.400 GeneticVariation disease BEFREE In the present study, the authors analyzed polysialylated NCAM expression in 82 pituitary tumors from humans: 49 secreting adenomas, 32 nonfunctioning adenomas, and one growth hormone and prolactin-secreting carcinoma associated with acromegaly and spinal and liver metastases. 12744370 2003
Entrez Id: 2688
Gene Symbol: GH1
GH1
0.400 GeneticVariation disease BEFREE Janus kinase (JAK) 2 V617F mutation as the cause of primary thrombocythemia in acromegaly with severe visceromegaly and divergence between growth hormone and insulin-like growth factor-1 concentrations during the follow-up: causal or casual association? 22364960 2012
Entrez Id: 9049
Gene Symbol: AIP
AIP
0.400 GeneticVariation disease BEFREE AIP mutations were detected in 16 (3.6%) of the 443 patients, comprising six of 148 patients with acromegaly (4.1%), six of 132 patients with prolactinomas (4.5%), one of 113 patients with nonfunctioning adenomas (0.9%), three of 44 patients with corticotropic adenomas (6.8%), and none of the six patients with thyrotropic adenomas. 22319033 2012
Entrez Id: 3479
Gene Symbol: IGF1
IGF1
0.400 GeneticVariation disease BEFREE The possible role of IGF1 polymorphism on susceptibility to acromegaly remains to be investigated. 25370837 2014
Entrez Id: 3479
Gene Symbol: IGF1
IGF1
0.400 GeneticVariation disease BEFREE Suppressor of cytokine signaling (SOCS) 2, a negative regulator of growth hormone (GH) and insulin-like growth factor 1 (IGF-1), which is associated with acromegaly and cancers, is a promising candidate molecule for treating various diseases. 30343638 2019
Entrez Id: 3479
Gene Symbol: IGF1
IGF1
0.400 GeneticVariation disease BEFREE Extent of treatments given for acromegaly associated with higher preoperative GH (P = 7.94 × 10<sup>-4</sup>), KNOSP (P = 0.003) and preoperative hypopituitarism (P = 0.03) and remission at last follow-up with change in 3-month postoperative IGF1 (P = 2.07 × 10<sup>-7</sup>). 27998919 2017
Entrez Id: 9049
Gene Symbol: AIP
AIP
0.400 GeneticVariation disease BEFREE We studied two AIP-mutation positive acromegaly patients with early-onset, invasive macroadenomas and inoperable residues after neurosurgery. 30851160 2019
Entrez Id: 3479
Gene Symbol: IGF1
IGF1
0.400 GeneticVariation disease BEFREE A retrospective observational study was conducted in patients with acromegaly to analyze IGF1 and IGFBP3 gene polymorphisms. 25385818 2015
Entrez Id: 3479
Gene Symbol: IGF1
IGF1
0.400 GeneticVariation disease BEFREE The aim of this study was to test whether the relationship between GH and insulin-like growth factor-1 (IGF-1) concentrations is influenced by the GHR genotype in patients with acromegaly. 17573420 2007
Entrez Id: 9049
Gene Symbol: AIP
AIP
0.400 GeneticVariation disease BEFREE Germline AIP mutations usually cause young-onset acromegaly with low penetrance in a subset of familial isolated pituitary adenoma families. 24423289 2014
Entrez Id: 9049
Gene Symbol: AIP
AIP
0.400 GeneticVariation disease BEFREE We enrolled 77 wild-type AIP gene acromegaly patients, who have been screened for germline AHR rs2066853 variant and GSTP1 gene promoter methylation. 30488289 2019
Entrez Id: 9049
Gene Symbol: AIP
AIP
0.400 GeneticVariation disease BEFREE Of the 6 acromegaly patients with AIP mutation (F/M: 3/3) the mean age at diagnosis of acromegaly was 32 ± 10.3 years while the mean age of symptom onset was 24.8 ± 9.9 years. 23743763 2014