hypercalcemia |
Disease ID | 815 |
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Disease | hypercalcemia |
Manually Symptom | UMLS | Name(Total Manually Symptoms:105) C2700565 | pancreatic cancer C2697417 | pheochromocytoma C2697310 | sarcoidosis C2632116 | stenosis C2364051 | fatigue C1963198 | pancreatitis C1963154 | renal failure C1963138 | hypertension C1963091 | diarrhea C1962972 | proteinuria C1704380 | distal renal tubular acidosis C1565489 | renal insufficiency C1378703 | renal carcinoma C1370419 | granulosa cell tumor of the ovary C1336745 | thymic lymphoma C1335749 | carcinoma of the renal pelvis C1333100 | squamous cell carcinoma of the colon C1328479 | malignant islet cell tumor C1328402 | metastatic glioma C1140680 | ovarian cancer C1112474 | esophageal small cell carcinoma C1090821 | sepsis C0919267 | ovarian tumors C0919267 | ovarian tumor C0919267 | ovarian neoplasm C0877055 | acute generalized exanthematous pustulosis C0752303 | urological manifestations C0745136 | hypertensive emergency C0740451 | granulomatous disease C0699885 | bladder carcinoma C0684249 | lung carcinoma C0684249 | lung cancer C0679309 | somatic manifestation C0678222 | carcinoma of the breast C0678222 | breast cancer C0677886 | carcinoma of the ovary C0553723 | cutaneous squamous cell carcinoma C0549473 | carcinoma of the thyroid C0519067 | renal sarcoidosis C0426576 | gastrointestinal symptoms C0346185 | dysgerminoma of the ovary C0278828 | metastatic bladder cancer C0276667 | disseminated coccidioidomycosis C0270458 | psychotic depression C0267941 | acute necrotizing pancreatitis C0264523 | pulmonary calcification C0238410 | transitional cell carcinoma of the renal pelvis C0238409 | squamous cell carcinoma of the renal pelvis C0235974 | carcinoma of the pancreas C0235031 | neurologic symptoms C0234428 | consciousness disturbance C0220983 | metabolic alkalosis C0206754 | neuroendocrine tumors C0206686 | adrenal cortical carcinoma C0206681 | clear cell carcinoma C0162299 | thyroid cyst C0155120 | band keratopathy C0153690 | bone metastasis C0153690 | bone metastases C0149925 | small cell lung cancer C0085681 | hyperphosphatemia C0085602 | polydipsia C0085082 | fungemia C0085074 | granuloma annulare C0079772 | t cell lymphoma C0036631 | seminoma C0036572 | seizures C0035222 | acute respiratory distress syndrome C0032617 | polyuria C0032463 | polycythemia vera C0031511 | phaeochromocytoma C0030521 | parathyroid neoplasms C0030472 | paraneoplastic syndromes C0030472 | paraneoplastic syndrome C0030297 | pancreatic neoplasms C0030297 | pancreatic neoplasm C0027708 | nephroblastoma C0026946 | fungal infection C0026764 | multiple myeloma C0026141 | milk-alkali syndrome C0024305 | non-hodgkin's lymphoma C0024302 | reticulosarcoma C0024299 | malignant lymphoma C0023601 | leydig cell tumor C0023494 | chronic t-cell leukemia C0023493 | adult t-cell leukemia-lymphoma C0023493 | adult t cell leukemia C0023484 | plasma cell leukemia C0023462 | acute megakaryoblastic leukemia C0022665 | renal tumors C0022661 | chronic renal failure C0022660 | acute renal failure C0020550 | hyperthyroidism C0020503 | secondary hyperparathyroidism C0020502 | hyperparathyroidism C0018854 | gamma heavy-chain disease C0018021 | thyroid enlargement C0013377 | dysgerminoma C0013336 | dwarfism C0008309 | cholangioma C0007137 | squamous cell carcinoma C0007121 | carcinoma of the bronchus C0006705 | disorders of calcium metabolism C0001418 | adenocarcinoma C0001339 | acute pancreatitis |
Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:34) C0020502 | hyperparathyroidism | 39 C0030305 | pancreatitis | 17 C0035078 | renal failure | 12 C0001339 | acute pancreatitis | 10 C0022660 | acute renal failure | 6 C0026764 | multiple myeloma | 6 C0036202 | sarcoidosis | 6 C1565489 | renal insufficiency | 6 C0006142 | breast cancer | 3 C0242379 | lung cancer | 3 C0001418 | adenocarcinoma | 3 C0740451 | granulomatous disease | 3 C0153690 | bone metastases | 3 C0221002 | primary hyperparathyroidism | 3 C0022661 | chronic renal failure | 2 C0026141 | milk-alkali syndrome | 2 C0007137 | squamous cell carcinoma | 2 C0220983 | metabolic alkalosis | 2 C0020503 | secondary hyperparathyroidism | 2 C0426576 | gastrointestinal symptoms | 1 C0276667 | disseminated coccidioidomycosis | 1 C0030472 | paraneoplastic syndrome | 1 C0013377 | dysgerminoma | 1 C0020550 | hyperthyroidism | 1 C0267941 | acute necrotizing pancreatitis | 1 C0036631 | seminoma | 1 C0007134 | renal carcinoma | 1 C0206754 | neuroendocrine tumors | 1 C0032463 | polycythemia vera | 1 C1140680 | ovarian cancer | 1 C0001126 | distal renal tubular acidosis | 1 C0085681 | hyperphosphatemia | 1 C0162299 | thyroid cyst | 1 C0020538 | hypertension | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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(Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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(Waiting for update.) |
All Snps(Total Genotypes:3) | |||||||||||||
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snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
rs1042636 | 22166946 | 846 | CASR | umls:C0020437 | BeFree | Calcium-sensing receptor polymorphism rs1042636 (Arg990Gly) affects the response to the calcimimetic cinacalcet, used to treat hypercalcemia in secondary hyperparathyroidism (sHPT) or parathyroid carcinoma. | 0.177628636 | 2012 | CASR | 3 | 122284922 | A | G |
rs1801725 | 19694204 | 846 | CASR | umls:C0020437 | BeFree | We report an infant with transient neonatal hypercalcemia who was found to be homozygous for a polymorphism at A986S of the CaSR. | 0.177628636 | 2009 | CASR | 3 | 122284910 | G | T |
rs201858689 | 24854525 | 846 | CASR | umls:C0020437 | BeFree | The NSHPT associated with biallelic Gly768Val mutations of the CASR in two siblings with severe hypercalcemia and hyperparathyroidism and their clinically and biochemically normal heterozygous parents was transmitted as an autosomal recessive disorder in this family. | 0.177628636 | 2014 | CASR | 3 | 122284257 | G | T |
GWASdb Annotation(Total Genotypes:0) | |
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GWASdb Snp Trait(Total Genotypes:0) | |
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Mapped by lexical matching(Total Items:0) |
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(Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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(Waiting for update.) |
Disease ID | 815 |
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Disease | hypercalcemia |
Case | (Waiting for update.) |