Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1636
Gene Symbol: ACE
ACE
0.010 AlteredExpression disease BEFREE The frequency of elevate angiotensin-converting enzyme level and hypercalcemia was not significantly different between the two sexes. 27709291 2017
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2
0.100 CausalMutation disease CLINVAR Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 20725928 2010
Entrez Id: 213
Gene Symbol: ALB
ALB
0.060 Biomarker disease BEFREE Hypercalcemia was found in 22 (7.7%) patients, explained by possible primary hyperparathyroidism in 6 cases, and by the other causes of hypercalcemia including postoperative low albumin. 30978416 2019
Entrez Id: 213
Gene Symbol: ALB
ALB
0.060 GeneticVariation disease BEFREE Other abnormal serum levels with regard to the cases are as follows: hyperproteinemia in 30%, low albumin/globulin (A/G) ratio in 54.2%, hypercalcemia in 11.3%, serum creatinine level of >2.0 mg/dL in 27.2% cases, and increased β2-microglobulin in 67%. 31355076 2019
Entrez Id: 213
Gene Symbol: ALB
ALB
0.060 Biomarker disease BEFREE Conventional albumin-corrected calcium is inaccurate in predicting ionized calcium, and hidden hypercalcemia, characterized as high ionized calcium with normal total calcium, is associated with higher mortality in hemodialysis patients. 27714897 2017
Entrez Id: 213
Gene Symbol: ALB
ALB
0.060 GeneticVariation disease BEFREE Investigations revealed hypercalcemia with albumin:globulin reversal. 31519718 2019
Entrez Id: 213
Gene Symbol: ALB
ALB
0.060 AlteredExpression disease BEFREE Albumin-corrected-calcium levels were classified to marked hypocalcemia (<7.5 mg/dL), mild hypocalcemia (7.5-8.5 mg/dL), normal calcium (8.5-10.5 mg/dL), mild hypercalcemia (10.5-11.5 mg/dL), marked hypercalcemia (>11.5 mg/dL). 28667379 2017
Entrez Id: 213
Gene Symbol: ALB
ALB
0.060 AlteredExpression disease BEFREE When compared with age-sex matched patients and normal calcium levels, those with hypercalcemia had higher levels of LDH, lower levels of albumin and more advanced stage. 31167584 2019
Entrez Id: 249
Gene Symbol: ALPL
ALPL
0.110 Biomarker disease BEFREE She was thoroughly investigated, including genetic testing of the CYP24A1, CASR, ALPL, and NOD2 genes, to determine the cause of hypercalcaemia. 26675490 2016
Entrez Id: 249
Gene Symbol: ALPL
ALPL
0.110 Biomarker disease HPO
Entrez Id: 250
Gene Symbol: ALPP
ALPP
0.020 AlteredExpression disease BEFREE Nearly undetectable serum ALP activity, elevated plasma PLP and urinary phosphoethanolamine (PEA) and inorganic pyrophosphate (PPi) levels, hypercalcemia, hypercalciuria and nephrocalcinosis were consistent with infantile HPP. 17395561 2007
Entrez Id: 250
Gene Symbol: ALPP
ALPP
0.020 Biomarker disease BEFREE Cl/PO4 combined with ALP increased the receiver-operating characteristic curves (ROC-AUC) and the diagnostic value in NPHPT and hypercalcaemia PHPT group (0.913; 95% CI, 0.744-1.000 and 0.932; 95% CI, 0.897-0.966, respectively), specificity of 92.8% and sensitivity of 98%. 28687737 2017
Entrez Id: 1175
Gene Symbol: AP2S1
AP2S1
0.120 Biomarker disease HPO
Entrez Id: 1175
Gene Symbol: AP2S1
AP2S1
0.120 GeneticVariation disease BEFREE Our objective was to report AP2S1 mutation and effects of low calcium formula in a patient with hypercalcemia and hypercalciuria. 24081735 2013
Entrez Id: 1175
Gene Symbol: AP2S1
AP2S1
0.120 GeneticVariation disease BEFREE Hypercalcemia in our patient with 22q11.2 DS could be explained by the de novo mutation in AP2S1. 25993639 2015
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.020 Biomarker disease BEFREE Using a combined proteomics and microscopy approach, Khositseth et al. show that autophagy contributes to the downregulation of the water channel aquaporin-2 in response to hypercalcemia. 28407874 2017
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.020 Biomarker disease BEFREE Immunogold electron microscopy revealed aquaporin-2 in autophagosomes in IMCD cells from both hypercalcemia models. 28139295 2017
Entrez Id: 407
Gene Symbol: ARR3
ARR3
0.010 GeneticVariation disease BEFREE Here, we investigate a unique variant of familial hypercalcemia, unrelated to multiple endocrine neoplasia and hyperparathyroidism-jaw tumor syndromes, with hypercalcemia due to a point mutation in the intracellular part of the calcium receptor (CaR) gene. 12161540 2002
Entrez Id: 80150
Gene Symbol: ASRGL1
ASRGL1
0.020 AlteredExpression disease BEFREE Nearly undetectable serum ALP activity, elevated plasma PLP and urinary phosphoethanolamine (PEA) and inorganic pyrophosphate (PPi) levels, hypercalcemia, hypercalciuria and nephrocalcinosis were consistent with infantile HPP. 17395561 2007
Entrez Id: 80150
Gene Symbol: ASRGL1
ASRGL1
0.020 Biomarker disease BEFREE Cl/PO4 combined with ALP increased the receiver-operating characteristic curves (ROC-AUC) and the diagnostic value in NPHPT and hypercalcaemia PHPT group (0.913; 95% CI, 0.744-1.000 and 0.932; 95% CI, 0.897-0.966, respectively), specificity of 92.8% and sensitivity of 98%. 28687737 2017
Entrez Id: 470
Gene Symbol: ATHS
ATHS
0.020 Biomarker disease BEFREE Cl/PO4 combined with ALP increased the receiver-operating characteristic curves (ROC-AUC) and the diagnostic value in NPHPT and hypercalcaemia PHPT group (0.913; 95% CI, 0.744-1.000 and 0.932; 95% CI, 0.897-0.966, respectively), specificity of 92.8% and sensitivity of 98%. 28687737 2017
Entrez Id: 470
Gene Symbol: ATHS
ATHS
0.020 AlteredExpression disease BEFREE Nearly undetectable serum ALP activity, elevated plasma PLP and urinary phosphoethanolamine (PEA) and inorganic pyrophosphate (PPi) levels, hypercalcemia, hypercalciuria and nephrocalcinosis were consistent with infantile HPP. 17395561 2007
Entrez Id: 26033
Gene Symbol: ATRNL1
ATRNL1
0.020 AlteredExpression disease BEFREE Nearly undetectable serum ALP activity, elevated plasma PLP and urinary phosphoethanolamine (PEA) and inorganic pyrophosphate (PPi) levels, hypercalcemia, hypercalciuria and nephrocalcinosis were consistent with infantile HPP. 17395561 2007
Entrez Id: 26033
Gene Symbol: ATRNL1
ATRNL1
0.020 Biomarker disease BEFREE Cl/PO4 combined with ALP increased the receiver-operating characteristic curves (ROC-AUC) and the diagnostic value in NPHPT and hypercalcaemia PHPT group (0.913; 95% CI, 0.744-1.000 and 0.932; 95% CI, 0.897-0.966, respectively), specificity of 92.8% and sensitivity of 98%. 28687737 2017
Entrez Id: 9031
Gene Symbol: BAZ1B
BAZ1B
0.110 Biomarker disease HPO