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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   hypercalcemia
  

Disease ID 815
Disease hypercalcemia
Definition
Abnormally high level of calcium in the blood.
Synonym
calcium blood increased
high blood calcium levels
hypercalcaemia
hypercalcaemia syndrome
hypercalcemia (disorder)
hypercalcemia [disease/finding]
hypercalcemia syndrome
hypercalcemias
hypercalcinemia
increased calcium in blood
raised serum calcium level
raised serum calcium level (finding)
DOID
ICD10
UMLS
C0020437
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:146)
C0020502  |  hyperparathyroidism  |  41
C0035078  |  renal failure  |  19
C0030305  |  pancreatitis  |  18
C0221002  |  primary hyperparathyroidism  |  18
C0001339  |  acute pancreatitis  |  9
C0036202  |  sarcoidosis  |  9
C0022660  |  acute renal failure  |  8
C0026764  |  myeloma  |  8
C0026764  |  multiple myeloma  |  7
C1565489  |  renal insufficiency  |  6
C0023418  |  leukemia  |  4
C0029456  |  osteoporosis  |  4
C0001418  |  adenocarcinoma  |  4
C0242379  |  lung cancer  |  4
C0687150  |  parathyroid carcinoma  |  3
C0006142  |  breast cancer  |  3
C0007137  |  squamous cell carcinoma  |  3
C0027709  |  nephrocalcinosis  |  3
C0549473  |  thyroid carcinoma  |  3
C0022658  |  renal disease  |  3
C0024299  |  lymphoma  |  3
C0007115  |  thyroid ca  |  3
C0022658  |  kidney disease  |  2
C1561644  |  chronic kidney disease (ckd)  |  2
C0040156  |  thyrotoxicosis  |  2
C0022661  |  chronic renal failure  |  2
C0023448  |  lymphocytic leukemia  |  2
C0079731  |  b-cell lymphoma  |  2
C0151468  |  thyroid adenoma  |  2
C0262587  |  parathyroid adenomas  |  2
C0011847  |  diabetes  |  2
C0019204  |  hepatocellular carcinoma  |  2
C0001206  |  acromegaly  |  2
C0262587  |  parathyroid adenoma  |  2
C0011848  |  diabetes insipidus  |  2
C0020503  |  secondary hyperparathyroidism  |  2
C0019655  |  histoplasmosis  |  2
C0206754  |  neuroendocrine tumor  |  2
C0023434  |  chronic lymphocytic leukemia  |  2
C0035078  |  kidney failure  |  2
C0024299  |  lymphomas  |  2
C0175702  |  williams syndrome  |  2
C0036202  |  sarcoid  |  2
C0162283  |  nephrogenic diabetes insipidus  |  2
C0022661  |  chronic kidney disease  |  2
C0020626  |  hypoparathyroidism  |  2
C0149521  |  recurrent pancreatitis  |  2
C0699791  |  gastric carcinoma  |  1
C0155626  |  acute mi  |  1
C0276688  |  pulmonary cryptococcosis  |  1
C1412036  |  squamous cell carcinoma of the anus  |  1
C0027059  |  myocarditis  |  1
C0836924  |  thrombocythemia  |  1
C1565662  |  acute renal insufficiency  |  1
C0006112  |  metabolic encephalopathy  |  1
C0032463  |  polycythemia vera  |  1
C0206754  |  neuroendocrine tumors  |  1
C0001430  |  adenoma  |  1
C0024523  |  intestinal malabsorption  |  1
C1140680  |  ovarian cancers  |  1
C0235974  |  pancreatic carcinoma  |  1
C0003873  |  rheumatoid arthritis  |  1
C0025267  |  multiple endocrine neoplasia type 1  |  1
C0162299  |  thyroid cyst  |  1
C0027121  |  myositis  |  1
C0012624  |  spondylodiscitis  |  1
C0403447  |  chronic renal insufficiency  |  1
C0006160  |  brenner tumor  |  1
C0023267  |  leiomyoma  |  1
C0175695  |  sotos syndrome  |  1
C0023449  |  acute lymphoblastic leukaemia  |  1
C0017920  |  glycogen storage disease type i  |  1
C0042133  |  uterine leiomyoma  |  1
C0020550  |  hyperthyroidism  |  1
C0030517  |  parathyroid disease  |  1
C0011882  |  diabetic neuropathy  |  1
C0376545  |  hematological malignancy  |  1
C0085681  |  hyperphosphatemia  |  1
C0022661  |  chronic kidney failure  |  1
C0279702  |  clear cell renal carcinoma  |  1
C0031511  |  phaeochromocytoma  |  1
C1140680  |  ovarian cancer  |  1
C0013377  |  dysgerminoma  |  1
C0036631  |  seminomas  |  1
C0040128  |  thyroid diseases  |  1
C0034063  |  pulmonary edema  |  1
C0023418  |  leukaemia  |  1
C0079744  |  diffuse large b-cell lymphoma  |  1
C0007134  |  renal cell carcinoma  |  1
C0017919  |  glycogen storage disease  |  1
C0026948  |  mycosis fungoides  |  1
C0035086  |  renal osteodystrophy  |  1
C0010481  |  cushing's syndrome  |  1
C0022661  |  end-stage kidney disease  |  1
C0007134  |  renal carcinoma  |  1
C0001403  |  addison's disease  |  1
C0023448  |  lymphoblastic leukemia  |  1
C0079731  |  b cell lymphoma  |  1
C0220659  |  acrodysostosis  |  1
C0025202  |  melanoma  |  1
C0027022  |  myeloproliferative disorders  |  1
C0040128  |  thyroid disease  |  1
C0018213  |  graves' disease  |  1
C0027662  |  multiple endocrine neoplasia  |  1
C0020676  |  hypothyroidism  |  1
C0023467  |  acute myeloid leukemia  |  1
C0392525  |  nephrolithiasis  |  1
C0041296  |  tuberculosis  |  1
C0032461  |  polycythemia  |  1
C0024419  |  waldenstrom's macroglobulinaemia  |  1
C0027022  |  myeloproliferative disorder  |  1
C0024141  |  systemic lupus erythematosus  |  1
C0040127  |  thyroid storm  |  1
C0014859  |  esophageal cancer  |  1
C0022661  |  chronic renal disease  |  1
C0003864  |  arthritis  |  1
C0026946  |  mycosis  |  1
C0001815  |  myelofibrosis  |  1
C0023470  |  myeloid leukemia  |  1
C0020630  |  hypophosphatasia  |  1
C0206698  |  cholangiocarcinoma  |  1
C0040147  |  thyroiditis  |  1
C0005586  |  bipolar disorder  |  1
C0376545  |  hematological malignancies  |  1
C0279637  |  carcinoma of the anus  |  1
C0001623  |  adrenal insufficiency  |  1
C0040028  |  essential thrombocythemia  |  1
C0149925  |  small cell carcinoma of the lung  |  1
C0001126  |  renal tubular acidosis  |  1
C0175702  |  williams-beuren syndrome  |  1
C0041327  |  pulmonary tb  |  1
C0022661  |  end-stage renal disease  |  1
C0036631  |  seminoma  |  1
C0020538  |  hypertension  |  1
C0346185  |  ovarian dysgerminoma  |  1
C0699893  |  non-melanoma skin cancer  |  1
C0029401  |  paget's disease of bone  |  1
C0684249  |  carcinoma of the lung  |  1
C1140680  |  ovarian ca  |  1
C0007114  |  skin cancer  |  1
C0494165  |  liver metastasis  |  1
C0006663  |  calcinosis  |  1
C0002448  |  ameloblastoma  |  1
C0018206  |  granulosa cell tumor  |  1
C0023903  |  liver tumor  |  1
C0011880  |  diabetic ketoacidosis  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:12)
7124  |  TNF  |  CTD_human
846  |  CASR  |  CTD_human
3569  |  IL6  |  CTD_human
5741  |  PTH  |  CTD_human
796  |  CALCA  |  CTD_human
4982  |  TNFRSF11B  |  CTD_human
8600  |  TNFSF11  |  CTD_human
9365  |  KL  |  CTD_human
799  |  CALCR  |  CTD_human
1594  |  CYP27B1  |  CTD_human
6569  |  SLC34A1  |  CTD_human
5744  |  PTHLH  |  CTD_human
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:88)
55811  |  ADCY10  |  2.956  |  DISEASES
174  |  AFP  |  1.385  |  DISEASES
197  |  AHSG  |  2.205  |  DISEASES
249  |  ALPL  |  3.113  |  DISEASES
250  |  ALPP  |  1.92  |  DISEASES
393  |  ARHGAP4  |  2.56  |  DISEASES
551  |  AVP  |  3.429  |  DISEASES
567  |  B2M  |  2.966  |  DISEASES
632  |  BGLAP  |  4.631  |  DISEASES
796  |  CALCA  |  6.61  |  DISEASES
799  |  CALCR  |  1.618  |  DISEASES
83698  |  CALN1  |  1.702  |  DISEASES
833  |  CARS  |  1.314  |  DISEASES
846  |  CASR  |  6.673  |  DISEASES
959  |  CD40LG  |  1.444  |  DISEASES
79577  |  CDC73  |  4.825  |  DISEASES
23562  |  CLDN14  |  1.567  |  DISEASES
22820  |  COPG1  |  1.516  |  DISEASES
1435  |  CSF1  |  1.702  |  DISEASES
120227  |  CYP2R1  |  1.062  |  DISEASES
11117  |  EMILIN1  |  1.432  |  DISEASES
64772  |  ENGASE  |  1.7  |  DISEASES
2113  |  ETS1  |  1.307  |  DISEASES
2159  |  F10  |  2.122  |  DISEASES
51313  |  FAM198B  |  2.025  |  DISEASES
115548  |  FCHO2  |  2.919  |  DISEASES
89848  |  FCHSD1  |  3.367  |  DISEASES
9873  |  FCHSD2  |  2.024  |  DISEASES
2224  |  FDPS  |  1.743  |  DISEASES
342184  |  FMN1  |  1.917  |  DISEASES
23048  |  FNBP1  |  3.426  |  DISEASES
2591  |  GALNT3  |  2.941  |  DISEASES
2520  |  GAST  |  3.549  |  DISEASES
2638  |  GC  |  2.705  |  DISEASES
2641  |  GCG  |  1.8  |  DISEASES
9247  |  GCM2  |  1.287  |  DISEASES
57720  |  GPR107  |  2.21  |  DISEASES
63940  |  GPSM3  |  2.702  |  DISEASES
2969  |  GTF2I  |  1.913  |  DISEASES
3382  |  ICA1  |  1.364  |  DISEASES
81689  |  ISCA1  |  1.489  |  DISEASES
51780  |  KDM3B  |  1.222  |  DISEASES
10656  |  KHDRBS3  |  2.066  |  DISEASES
9365  |  KL  |  3.452  |  DISEASES
9735  |  KNTC1  |  2.503  |  DISEASES
3984  |  LIMK1  |  1.377  |  DISEASES
4049  |  LTA  |  1.683  |  DISEASES
4214  |  MAP3K1  |  1.332  |  DISEASES
4221  |  MEN1  |  4.419  |  DISEASES
8972  |  MGAM  |  3.438  |  DISEASES
4477  |  MSMB  |  1.259  |  DISEASES
92140  |  MTDH  |  1.464  |  DISEASES
79625  |  NDNF  |  2.49  |  DISEASES
4772  |  NFATC1  |  1.085  |  DISEASES
54475  |  NLE1  |  1.352  |  DISEASES
387129  |  NPSR1  |  2.042  |  DISEASES
220323  |  OAF  |  1.949  |  DISEASES
139135  |  PASD1  |  1.148  |  DISEASES
103164619  |  PCAT2  |  1.926  |  DISEASES
9124  |  PDLIM1  |  3.819  |  DISEASES
10471  |  PFDN6  |  1.278  |  DISEASES
5251  |  PHEX  |  1.782  |  DISEASES
11201  |  POLI  |  2.199  |  DISEASES
5530  |  PPP3CA  |  1.016  |  DISEASES
5745  |  PTH1R  |  3.914  |  DISEASES
5744  |  PTHLH  |  7.934  |  DISEASES
5979  |  RET  |  2.093  |  DISEASES
10636  |  RGS14  |  1.34  |  DISEASES
8153  |  RND2  |  1.423  |  DISEASES
6050  |  RNH1  |  1.288  |  DISEASES
6166  |  RPL36AL  |  1.641  |  DISEASES
91582  |  RPS19BP1  |  1.325  |  DISEASES
344892  |  RTP2  |  1.75  |  DISEASES
795  |  S100G  |  2.524  |  DISEASES
6569  |  SLC34A1  |  2.614  |  DISEASES
142680  |  SLC34A3  |  2.643  |  DISEASES
6597  |  SMARCA4  |  1.131  |  DISEASES
23583  |  SMUG1  |  1.559  |  DISEASES
6696  |  SPP1  |  1.937  |  DISEASES
6708  |  SPTA1  |  2.645  |  DISEASES
57522  |  SRGAP1  |  2.633  |  DISEASES
9901  |  SRGAP3  |  2.328  |  DISEASES
7124  |  TNF  |  2.418  |  DISEASES
8792  |  TNFRSF11A  |  3.074  |  DISEASES
9322  |  TRIP10  |  2.897  |  DISEASES
55503  |  TRPV6  |  2.708  |  DISEASES
7421  |  VDR  |  5.149  |  DISEASES
7432  |  VIP  |  1.134  |  DISEASES
Locus(Waiting for update.)
Disease ID 815
Disease hypercalcemia
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:106)
HP:0000843  |  Hyperparathyroidism  |  43
HP:0000083  |  Renal insufficiency  |  24
HP:0001733  |  Pancreatic inflammation  |  19
HP:0008200  |  Primary hyperparathyroidism  |  18
HP:0002664  |  Neoplasia  |  13
HP:0001919  |  Acute renal failure  |  13
HP:0030731  |  Carcinoma  |  11
HP:0001735  |  Acute pancreatitis  |  10
HP:0006775  |  Multiple myeloma  |  8
HP:0002150  |  Hypercalcinuria  |  5
HP:0002797  |  Increased bone resorption  |  4
HP:0006780  |  Parathyroid Cancer  |  4
HP:0000939  |  Osteoporosis  |  4
HP:0002890  |  Thyroid carcinoma  |  4
HP:0002039  |  Anorexia  |  4
HP:0001909  |  Leukemia  |  4
HP:0001944  |  Dehydration  |  4
HP:0012191  |  B-cell lymphoma  |  3
HP:0003774  |  End-stage renal failure  |  3
HP:0012531  |  Pain  |  3
HP:0003002  |  Breast carcinoma  |  3
HP:0002665  |  Lymphoma  |  3
HP:0002860  |  Squamous cell carcinoma  |  3
HP:0000829  |  Hypoparathyroidism  |  3
HP:0000845  |  Acromegalic growth  |  3
HP:0000121  |  Nephrocalcinosis  |  2
HP:0012622  |  Chronic kidney disease  |  2
HP:0005584  |  Renal cell carcinoma  |  2
HP:0008207  |  Addison's disease  |  2
HP:0005550  |  Chronic lymphatic leukemia  |  2
HP:0000854  |  Thyroid adenoma  |  2
HP:0000867  |  Secondary hyperparathyroidism  |  2
HP:0002901  |  Hypocalcemia  |  2
HP:0001942  |  Metabolic acidosis  |  2
HP:0003201  |  Rhabdomyolysis  |  2
HP:0009806  |  Nephrogenic diabetes insipidus  |  2
HP:0003127  |  Low urine calcium levels  |  2
HP:0002897  |  Parathyroid adenoma  |  2
HP:0002902  |  Hyponatremia  |  2
HP:0001948  |  Alkalosis  |  2
HP:0012819  |  Myocarditis  |  2
HP:0002900  |  Hypokalemia  |  2
HP:0001402  |  Hepatocellular carcinoma  |  2
HP:0002653  |  Bone pain  |  2
HP:0100027  |  Recurring pancreatitis  |  2
HP:0200114  |  Metabolic alkalosis  |  2
HP:0000873  |  Diabetes insipidus  |  2
HP:0000787  |  Renal calculi  |  2
HP:0000969  |  Dropsy  |  1
HP:0100621  |  Dysgerminoma  |  1
HP:0000820  |  Thyroid abnormality  |  1
HP:0100013  |  Tumours of the breast  |  1
HP:0001541  |  Ascites  |  1
HP:0030404  |  Glucagonoma  |  1
HP:0100033  |  Tic disorder  |  1
HP:0007302  |  Bipolar disorder  |  1
HP:0011974  |  Myelofibrosis  |  1
HP:0030153  |  Cholangiocarcinoma  |  1
HP:0003259  |  Increased serum creatinine  |  1
HP:0000131  |  Uterine leiomyoma  |  1
HP:0001901  |  Abnormally shaped erythrocytes  |  1
HP:0100568  |  Endocrine neoplasia  |  1
HP:0005547  |  Myeloproliferative disorder  |  1
HP:0000822  |  Hypertension  |  1
HP:0002725  |  Systemic lupus erythematosus  |  1
HP:0100723  |  Gastrointestinal stroma tumor  |  1
HP:0004808  |  Acute myelogenous leukemia  |  1
HP:0003761  |  Calcinosis  |  1
HP:0001370  |  Rheumatoid arthritis  |  1
HP:0000821  |  Underactive thyroid  |  1
HP:0001347  |  Hyperreflexia  |  1
HP:0012324  |  Myeloid leukemia  |  1
HP:0002013  |  Emesis  |  1
HP:0002018  |  Nausea  |  1
HP:0002024  |  Intestinal malabsorption  |  1
HP:0100646  |  Thyroiditis  |  1
HP:0003081  |  Increased urinary potassium  |  1
HP:0011675  |  Arrhythmias  |  1
HP:0011665  |  Takotsubo cardiomyopathy  |  1
HP:0100614  |  Muscle inflammation  |  1
HP:0000110  |  Renal dysplasia  |  1
HP:0010702  |  Hypergammaglobulinaemia  |  1
HP:0002315  |  Headaches  |  1
HP:0012378  |  Fatigue  |  1
HP:0000846  |  Hypoadrenalism  |  1
HP:0004934  |  Vascular calcification  |  1
HP:0002176  |  Spinal cord compression  |  1
HP:0000836  |  Overactive thyroid  |  1
HP:0001953  |  Diabetic ketosis  |  1
HP:0001941  |  acidemia  |  1
HP:0002861  |  Melanoma  |  1
HP:0001947  |  Renal tubular acidosis  |  1
HP:0006532  |  Pneumonia, recurrent episodes  |  1
HP:0008341  |  Renal tubular acidosis, type I  |  1
HP:0002148  |  Hypophosphataemia  |  1
HP:0001974  |  Leukocytosis  |  1
HP:0100598  |  Pulmonary oedema  |  1
HP:0100520  |  Oliguria  |  1
HP:0012190  |  T cell lymphoma  |  1
HP:0001369  |  Arthritis  |  1
HP:0001960  |  Hypokalemic metabolic alkalosis  |  1
HP:0002905  |  Hyperphosphatemia  |  1
HP:0002896  |  Liver cancer  |  1
HP:0001298  |  Encephalopathy  |  1
HP:0001824  |  Weight loss  |  1
HP:0000737  |  Irritability  |  1
Disease ID 815
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)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:3)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs104263622166946846CASRumls:C0020437BeFreeCalcium-sensing receptor polymorphism rs1042636 (Arg990Gly) affects the response to the calcimimetic cinacalcet, used to treat hypercalcemia in secondary hyperparathyroidism (sHPT) or parathyroid carcinoma.0.1776286362012CASR3122284922AG
rs180172519694204846CASRumls:C0020437BeFreeWe report an infant with transient neonatal hypercalcemia who was found to be homozygous for a polymorphism at A986S of the CaSR.0.1776286362009CASR3122284910GT
rs20185868924854525846CASRumls:C0020437BeFreeThe 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.0.1776286362014CASR3122284257GT
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Disease ID 815
Disease hypercalcemia
Case(Waiting for update.)