eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine

HOME
QUERY
- DISEASE
- GENOTYPE
NETWORK
- PHENOTYPE
- GENE
- COMMON
- DISEASE PAIR
DOWNLOAD
SUBMIT CASE
HELP&FAQ
- HELP&FAQ
- CONTACT US


	hyperparathyroidism

Disease ID	546
Disease	hyperparathyroidism
Definition	WHAT: Hyperparathyroidism.sHyperparathyroidism: a condition due to an increase in the secretion of the parathyroids, causing generalized osteitis fibrosa cystica, elevated serum calcium, decreased serum phosphorus, and increased excretion of both calcium and phosphorus.sWHY:sSeveral rheumatological disorders are associated with hyperpara- thyroidism. First, hyperuricemia and gouty arthritis (which may mimic hyperparathyroidism with renal stone formation and colic) have an increased incidence in patients with hyperparathyroidism. Second, patients with primary hyperparathyroidism show an increased incidence of chondrocalcinosis with episodes of calcium pyrophosphate crystal induced synovitis. Approximately 25% of patients with hyperparathyroidism will show radiographic evidence of calcification of articular cartilage and joint capsules. Finally, there can be a synovial and cartilaginous lesion ("osteogenic synovitis") in patients with hyperparathyroidism which may mimic other primary rheumatic diseases such as rheumatoid arthritis. In osteogenic synovitis there is softening and collapse of subchondral bone. Eventually the cartilage overlying this area erodes and is replaced by an irregular fibrocartilage. Eventually the articular surface of the joint is destroyed and secondary degenerative arthritis may develop.sREFS:s1) Zvaifler, NJ; Reefe, WE and Black, RL: Articular manifestations in primary hyperparathyroidism. Arthritis Rheum 5:237, 1962. 2) Scott, JT; Dixon, ASJ and Bywaters, EGL: Association of hyperuricemia and gout with hyperparathyroidism. Br Med J 1:1070, 1964. 3) Bywaters, EGL and Scott, JT : Joint lesions of hyperparathyroidism. Ann Rheum Dis 22:171-87, 1963.
Synonym	elevated blood parathyroid hormone level hpth - hyperparathyroidism hyperparathyroidism (disorder) hyperparathyroidism [disease/finding] hyperparathyroidism nos hyperparathyroidism, nos hyperparathyroidism, unspecified parathyroid, hyperfunction
DOID	DOID:13543
ICD10	ICD10CM:E21.3
UMLS	C0020502
MeSH	D006961
SNOMED-CT	SNOMEDCT_US_2016_09_01:66999008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:123) C0022661 \| chronic kidney disease \| 51 C0020437 \| hypercalcemia \| 46 C0022658 \| kidney disease \| 37 C0035078 \| renal failure \| 23 C0151468 \| thyroid adenoma \| 20 C0262587 \| parathyroid adenoma \| 20 C0042870 \| vitamin d deficiency \| 18 C0042870 \| vitamin d defic \| 18 C0027662 \| multiple endocrine neoplasia \| 15 C1561644 \| chronic kidney disease (ckd) \| 15 C0022658 \| renal disease \| 14 C0022661 \| chronic renal failure \| 14 C0001430 \| adenoma \| 12 C0025267 \| multiple endocrine neoplasia type 1 \| 11 C0022661 \| end-stage renal disease \| 11 C0005940 \| bone disease \| 9 C0262587 \| parathyroid adenomas \| 9 C0007115 \| thyroid ca \| 8 C0030305 \| pancreatitis \| 8 C0006666 \| calciphylaxis \| 7 C0549473 \| thyroid carcinoma \| 6 C0020437 \| hypercalcaemia \| 6 C0028754 \| obesity \| 5 C0001339 \| acute pancreatitis \| 5 C1384514 \| primary aldosteronism \| 5 C0029456 \| osteoporosis \| 4 C0687150 \| parathyroid carcinoma \| 4 C0020538 \| hypertension \| 4 C0027709 \| nephrocalcinosis \| 3 C0002871 \| anemia \| 3 C0011847 \| diabetes \| 3 C0085681 \| hyperphosphatemia \| 3 C0018801 \| heart failure \| 3 C0022661 \| chronic renal disease \| 3 C0029442 \| osteomalacia \| 3 C0392525 \| nephrolithiasis \| 3 C0031511 \| pheochromocytoma \| 3 C0733682 \| x-linked hypophosphatemic rickets \| 2 C0020428 \| aldosteronism \| 2 C0149521 \| chronic pancreatitis \| 2 C0035086 \| renal osteodystrophy \| 2 C0020428 \| hyperaldosteronism \| 2 C0028756 \| morbid obesity \| 2 C0016063 \| osteitis fibrosa \| 2 C0022661 \| end stage renal disease \| 2 C0025267 \| multiple endocrine neoplasia type i \| 2 C0029401 \| paget's disease \| 2 C0035579 \| hypovitaminosis d \| 2 C0020626 \| hypoparathyroidism \| 2 C1621895 \| adrenal hyperplasia \| 2 C0011849 \| diabetes mellitus \| 2 C0024141 \| systemic lupus erythematosus \| 2 C0042373 \| vascular disease \| 2 C0026764 \| multiple myeloma \| 2 C0020503 \| secondary hyperparathyroidism \| 2 C0007115 \| thyroid cancer \| 2 C0007222 \| cardiovascular disease \| 2 C0040128 \| thyroid disease \| 2 C0024523 \| malabsorption \| 2 C0018213 \| graves' disease \| 1 C0006142 \| breast cancer \| 1 C0017525 \| giant cell tumor \| 1 C0238463 \| papillary thyroid carcinoma \| 1 C0035579 \| rickets \| 1 C0022658 \| nephropathy \| 1 C0041952 \| ureteral stone \| 1 C0006663 \| calcinosis \| 1 C0034063 \| pulmonary edema \| 1 C0009324 \| ulcerative colitis \| 1 C0007134 \| renal carcinoma \| 1 C0085113 \| neurofibromatosis \| 1 C0016045 \| fibroma \| 1 C0033806 \| pseudohypoparathyroidism \| 1 C0022408 \| arthropathy \| 1 C0035086 \| renal bone disease \| 1 C0018099 \| gout \| 1 C0037274 \| dermatosis \| 1 C1704375 \| hypophosphatemic rickets \| 1 C0011860 \| type 2 diabetes \| 1 C0020542 \| pulmonary hypertension \| 1 C0030920 \| peptic ulcer \| 1 C0041296 \| tuberculosis \| 1 C0022661 \| end-stage renal failure \| 1 C0238462 \| medullary thyroid carcinoma \| 1 C0001126 \| renal tubular acidosis \| 1 C0001206 \| acromegaly \| 1 C0342637 \| familial hypocalciuric hypercalcaemia \| 1 C0026764 \| myeloma \| 1 C0016053 \| fibromyalgia \| 1 C0159069 \| impaired glucose tolerance \| 1 C0022661 \| end stage renal disease (esrd) \| 1 C0949691 \| spondylarthropathy \| 1 C0221406 \| cushing's disease \| 1 C0024454 \| maffucci's syndrome \| 1 C0007570 \| celiac disease \| 1 C0409974 \| lupus erythematosus \| 1 C1384514 \| primary hyperaldosteronism \| 1 C0040127 \| thyroid crisis \| 1 C0020550 \| hyperthyroidism \| 1 C0014130 \| endocrine disease \| 1 C0392525 \| renal lithiasis \| 1 C0025268 \| multiple endocrine neoplasia type 2a \| 1 C0041341 \| tuberous sclerosis \| 1 C0162283 \| nephrogenic diabetes insipidus \| 1 C0022661 \| end-stage kidney disease \| 1 C1510471 \| hypovitaminosis \| 1 C0011860 \| type 2 diabetes mellitus \| 1 C0041341 \| tuberous sclerosis complex \| 1 C0025268 \| multiple endocrine neoplasia type 2 \| 1 C1565489 \| renal insufficiency \| 1 C0017661 \| iga nephropathy \| 1 C0264716 \| chronic heart failure \| 1 C0029401 \| paget's bone disease \| 1 C0259779 \| fibrous dysplasia \| 1 C1305409 \| atypical adenoma \| 1 C0040128 \| thyroid diseases \| 1 C0033802 \| pseudogout \| 1 C0011848 \| diabetes insipidus \| 1 C0030920 \| peptic ulcer disease \| 1 C0678222 \| breast carcinoma \| 1 C1370740 \| adrenal carcinoma \| 1 C0037317 \| sleep disturbance \| 1 C0005586 \| bipolar disorder \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) 595 \| CCND1 \| CTD_human 846 \| CASR \| CTD_human 5745 \| PTH1R \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:7) 846 \| CASR \| CIPHER;CTD_human 595 \| CCND1 \| CIPHER;CTD_human 79577 \| CDC73 \| CIPHER 4221 \| MEN1 \| CIPHER 5741 \| PTH \| CIPHER 7421 \| VDR \| CIPHER 5745 \| PTH1R \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:85) 30 \| ACAA1 \| 1.019 \| DISEASES 51205 \| ACP6 \| 1.335 \| DISEASES 55811 \| ADCY10 \| 4.859 \| DISEASES 197 \| AHSG \| 2.564 \| DISEASES 238 \| ALK \| 1.537 \| DISEASES 249 \| ALPL \| 1.457 \| DISEASES 310 \| ANXA7 \| 1.363 \| DISEASES 551 \| AVP \| 1.477 \| DISEASES 567 \| B2M \| 3.045 \| DISEASES 8707 \| B3GALT2 \| 1.763 \| DISEASES 632 \| BGLAP \| 5.918 \| DISEASES 655 \| BMP7 \| 1.681 \| DISEASES 54836 \| BSPRY \| 1.689 \| DISEASES 796 \| CALCA \| 5.868 \| DISEASES 833 \| CARS \| 1.629 \| DISEASES 846 \| CASR \| 6.997 \| DISEASES 79577 \| CDC73 \| 6.446 \| DISEASES 22820 \| COPG1 \| 1.249 \| DISEASES 55118 \| CRTAC1 \| 1.383 \| DISEASES 7812 \| CSDE1 \| 1.021 \| DISEASES 1499 \| CTNNB1 \| 1.823 \| DISEASES 9646 \| CTR9 \| 1.042 \| DISEASES 120227 \| CYP2R1 \| 1.309 \| DISEASES 22943 \| DKK1 \| 1.562 \| DISEASES 1806 \| DPYD \| 2.145 \| DISEASES 149371 \| EXOC8 \| 1.188 \| DISEASES 2159 \| F10 \| 2.56 \| DISEASES 85302 \| FBF1 \| 1.127 \| DISEASES 2258 \| FGF13 \| 1.404 \| DISEASES 2260 \| FGFR1 \| 2.017 \| DISEASES 2591 \| GALNT3 \| 4.762 \| DISEASES 2618 \| GART \| 1.362 \| DISEASES 2520 \| GAST \| 4.591 \| DISEASES 2638 \| GC \| 3.625 \| DISEASES 2641 \| GCG \| 2.3 \| DISEASES 9247 \| GCM2 \| 3.547 \| DISEASES 2778 \| GNAS \| 2.269 \| DISEASES 63940 \| GPSM3 \| 2.068 \| DISEASES 3055 \| HCK \| 1.777 \| DISEASES 3274 \| HRH2 \| 1.923 \| DISEASES 3481 \| IGF2 \| 1.269 \| DISEASES 3486 \| IGFBP3 \| 1.62 \| DISEASES 10656 \| KHDRBS3 \| 1.409 \| DISEASES 9851 \| KIAA0753 \| 1.047 \| DISEASES 9365 \| KL \| 4.756 \| DISEASES 9735 \| KNTC1 \| 4.788 \| DISEASES 8825 \| LIN7A \| 1.363 \| DISEASES 4221 \| MEN1 \| 6.7 \| DISEASES 8972 \| MGAM \| 3.931 \| DISEASES 79625 \| NDNF \| 2.241 \| DISEASES 4763 \| NF1 \| 1.672 \| DISEASES 55922 \| NKRF \| 1.813 \| DISEASES 387129 \| NPSR1 \| 2.754 \| DISEASES 4306 \| NR3C2 \| 1.669 \| DISEASES 25973 \| PARS2 \| 1.116 \| DISEASES 103164619 \| PCAT2 \| 1.689 \| DISEASES 5154 \| PDGFA \| 1.044 \| DISEASES 5251 \| PHEX \| 3.073 \| DISEASES 162466 \| PHOSPHO1 \| 1.446 \| DISEASES 5573 \| PRKAR1A \| 1.134 \| DISEASES 51334 \| PRR16 \| 1.335 \| DISEASES 5745 \| PTH1R \| 2.769 \| DISEASES 5744 \| PTHLH \| 5.051 \| DISEASES 5789 \| PTPRD \| 2.457 \| DISEASES 51651 \| PTRH2 \| 1.637 \| DISEASES 5979 \| RET \| 5.143 \| DISEASES 10636 \| RGS14 \| 1.072 \| DISEASES 27246 \| RNF115 \| 1.746 \| DISEASES 6152 \| RPL24 \| 1.691 \| DISEASES 344892 \| RTP2 \| 1.483 \| DISEASES 860 \| RUNX2 \| 1.353 \| DISEASES 795 \| S100G \| 3.259 \| DISEASES 6390 \| SDHB \| 1.515 \| DISEASES 6391 \| SDHC \| 1.235 \| DISEASES 6392 \| SDHD \| 1.816 \| DISEASES 142680 \| SLC34A3 \| 1.388 \| DISEASES 23583 \| SMUG1 \| 1.95 \| DISEASES 6696 \| SPP1 \| 1.764 \| DISEASES 6708 \| SPTA1 \| 1.882 \| DISEASES 6902 \| TBCA \| 1.456 \| DISEASES 84260 \| TCHP \| 1.365 \| DISEASES 7018 \| TF \| 1.992 \| DISEASES 55503 \| TRPV6 \| 2.758 \| DISEASES 7421 \| VDR \| 5.886 \| DISEASES 57862 \| ZNF410 \| 1.725 \| DISEASES
Locus	(Waiting for update.)

Disease ID	546
Disease	hyperparathyroidism
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:102) HP:0003072 \| Hypercalcemia \| 55 HP:0012622 \| Chronic kidney disease \| 52 HP:0002664 \| Neoplasia \| 35 HP:0003774 \| End-stage renal failure \| 28 HP:0000083 \| Renal insufficiency \| 24 HP:0000854 \| Thyroid adenoma \| 21 HP:0002897 \| Parathyroid adenoma \| 21 HP:0100512 \| Vitamin D deficiency \| 20 HP:0100568 \| Endocrine neoplasia \| 13 HP:0002901 \| Hypocalcemia \| 9 HP:0000787 \| Renal calculi \| 8 HP:0001733 \| Pancreatic inflammation \| 8 HP:0030731 \| Carcinoma \| 7 HP:0008208 \| Parathyroid hyperplasia \| 7 HP:0002890 \| Thyroid carcinoma \| 6 HP:0000822 \| Hypertension \| 5 HP:0001735 \| Acute pancreatitis \| 5 HP:0001513 \| Obesity \| 5 HP:0000939 \| Osteoporosis \| 4 HP:0002905 \| Hyperphosphatemia \| 4 HP:0008249 \| Large thyroid \| 4 HP:0006780 \| Parathyroid Cancer \| 4 HP:0004934 \| Vascular calcification \| 4 HP:0000820 \| Thyroid abnormality \| 3 HP:0001903 \| Anemia \| 3 HP:0000121 \| Nephrocalcinosis \| 3 HP:0001635 \| Congestive heart failure \| 3 HP:0002666 \| Pheochromocytoma \| 3 HP:0002148 \| Hypophosphataemia \| 2 HP:0003002 \| Breast carcinoma \| 2 HP:0000855 \| Insulin resistance \| 2 HP:0002749 \| Osteomalacia \| 2 HP:0002150 \| Hypercalcinuria \| 2 HP:0002725 \| Systemic lupus erythematosus \| 2 HP:0011769 \| Ectopic parathyroid \| 2 HP:0006775 \| Multiple myeloma \| 2 HP:0002024 \| Intestinal malabsorption \| 2 HP:0000819 \| Diabetes mellitus \| 2 HP:0000867 \| Secondary hyperparathyroidism \| 2 HP:0002917 \| Low blood magnesium levels \| 2 HP:0000829 \| Hypoparathyroidism \| 2 HP:0000859 \| Mineralocorticoid excess \| 2 HP:0006280 \| Chronic pancreas inflammation \| 2 HP:0008221 \| Enlarged adrenal glands \| 2 HP:0002092 \| Pulmonary artery hypertension \| 2 HP:0001324 \| Muscular weakness \| 2 HP:0003040 \| Arthropathy \| 1 HP:0000845 \| Acromegalic growth \| 1 HP:0100735 \| Hypertensive crisis \| 1 HP:0000989 \| pruritis \| 1 HP:0000716 \| Depression \| 1 HP:0000969 \| Dropsy \| 1 HP:0008231 \| Macronodular adrenal hyperplasia \| 1 HP:0010783 \| Erythema \| 1 HP:0004912 \| Hypophosphatemic rickets \| 1 HP:0003165 \| Elevated circulating PTH level \| 1 HP:0040198 \| Nonmedullary thyroid carcinoma \| 1 HP:0004398 \| Peptic ulcer \| 1 HP:0000117 \| Decreased tubular maximum for phosphate reabsorption per glomerular filtration rate \| 1 HP:0002748 \| Rickets \| 1 HP:0000836 \| Overactive thyroid \| 1 HP:0030159 \| Cervical polyp \| 1 HP:0002608 \| Celiac disease \| 1 HP:0100550 \| Rupture of tendons \| 1 HP:0003388 \| Easy fatigability \| 1 HP:0011736 \| Primary hyperaldosteronism \| 1 HP:0030426 \| Ossifying fibroma \| 1 HP:0000924 \| Abnormality of the skeletal system \| 1 HP:0011001 \| Increased bone mineral density \| 1 HP:0003324 \| Muscle weakness, diffuse \| 1 HP:0008341 \| Renal tubular acidosis, type I \| 1 HP:0002360 \| Sleep disturbance \| 1 HP:0002865 \| Medullary thyroid carcinoma \| 1 HP:0001067 \| Neurofibromas \| 1 HP:0011782 \| Thyroid crisis \| 1 HP:0001250 \| Seizures \| 1 HP:0006744 \| Adrenal carcinoma \| 1 HP:0002900 \| Hypokalemia \| 1 HP:0011675 \| Arrhythmias \| 1 HP:0100598 \| Pulmonary oedema \| 1 HP:0012378 \| Fatigue \| 1 HP:0001947 \| Renal tubular acidosis \| 1 HP:0430028 \| Increased size of maxilla \| 1 HP:0000852 \| Pseudohypoparathyroidism \| 1 HP:0000833 \| Glucose intolerance \| 1 HP:0001919 \| Acute renal failure \| 1 HP:0005584 \| Renal cell carcinoma \| 1 HP:0002895 \| Papillary thyroid carcinoma \| 1 HP:0100570 \| Carcinoid tumor \| 1 HP:0007302 \| Bipolar disorder \| 1 HP:0003109 \| Hyperphosphaturia \| 1 HP:0001997 \| Gout \| 1 HP:0012743 \| Central obesity \| 1 HP:0011780 \| Thyroid hemiagenesis \| 1 HP:0001347 \| Hyperreflexia \| 1 HP:0001941 \| acidemia \| 1 HP:0100279 \| Ulcerative colitis \| 1 HP:0010614 \| Fibroma \| 1 HP:0012735 \| Coughing \| 1 HP:0030404 \| Glucagonoma \| 1 HP:0100785 \| Insomnia \| 1 HP:0003761 \| Calcinosis \| 1

Disease ID	546
Disease	hyperparathyroidism
Manually Symptom	UMLS \| Name(Total Manually Symptoms:81) C2697383 \| osteosarcoma C2678504 \| osteoporosis C2364377 \| delirium C2186538 \| thyroid disease C2116082 \| thyroid nodule C1963198 \| pancreatitis C1963154 \| renal failure C1963138 \| hypertension C1963101 \| encephalopathy C1963077 \| bone pain C1868653 \| calcific pancreatitis C1855534 \| logic syndrome C1839611 \| n syndrome C1546654 \| granuloma C1420725 \| thymoma C1285508 \| parathyromatosis C1136085 \| monoclonal gammopathy C0865171 \| parathyroiditis C0752303 \| urological manifestation C0740394 \| hyperuricemia C0687150 \| parathyroid cancer C0581883 \| deafness C0549473 \| thyroid carcinoma C0451641 \| urolithiasis C0403477 \| medullary nephrocalcinosis C0392525 \| renal lithiasis C0392525 \| nephrolithiasis C0376293 \| stigmata C0342650 \| periarticular calcification C0342634 \| neonatal hypocalcemia C0277792 \| pathognomonic sign C0265097 \| basilar artery narrowing C0262587 \| parathyroid adenomas C0238462 \| medullary carcinoma of the thyroid C0155288 \| papilloedema C0155120 \| band keratopathy C0149887 \| slipped capital femoral epiphysis C0149521 \| chronic pancreatitis C0043515 \| zollinger-ellison syndrome C0042373 \| vascular disease C0040137 \| thyroid nodules C0040136 \| thyroid tumor C0038454 \| stroke C0033774 \| itching C0033375 \| prolactinoma C0032962 \| pregnancy complications C0032617 \| polyuria C0030920 \| peptic ulcer disease C0030920 \| gastroduodenal ulcers C0030521 \| parathyroid neoplasm C0030283 \| pancreatic cyst C0029464 \| osteosclerosis C0029405 \| osteitis fibrosa cystica C0029405 \| brown tumour C0029405 \| brown tumor C0027765 \| neurological disease C0026987 \| myelosclerosis C0026848 \| myopathy C0025267 \| multiple endocrine adenomatosis type 1 C0024473 \| magnesium deficiency C0022951 \| lactose intolerance C0022681 \| cacchi ricci disease C0022658 \| renal disease C0020437 \| hypercalcemia C0020437 \| hypercalcaemia C0017525 \| giant cell tumor C0016063 \| osteitis fibrosa C0012569 \| diplopia C0011860 \| diabetes C0008489 \| chorea C0008350 \| cholelithiasis C0007279 \| carotid body tumor C0007095 \| carcinoid tumor C0006663 \| calcinosis C0005940 \| disorder of bone C0005940 \| bone disease C0004093 \| asthenia C0003507 \| aortic stenosis C0002871 \| anaemia C0001430 \| adenoma C0001339 \| acute pancreatitis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:30) C0020437 \| hypercalcemia \| 48 C0035078 \| renal failure \| 23 C0029405 \| brown tumor \| 21 C0022658 \| renal disease \| 14 C0001430 \| adenoma \| 13 C0262587 \| parathyroid adenomas \| 9 C0005940 \| bone disease \| 9 C0030305 \| pancreatitis \| 8 C0020437 \| hypercalcaemia \| 7 C0549473 \| thyroid carcinoma \| 6 C0020538 \| hypertension \| 5 C0001339 \| acute pancreatitis \| 5 C0040136 \| thyroid tumor \| 5 C0029456 \| osteoporosis \| 4 C0392525 \| nephrolithiasis \| 3 C0040128 \| thyroid disease \| 3 C0042373 \| vascular disease \| 2 C0149887 \| slipped capital femoral epiphysis \| 2 C0011847 \| diabetes \| 2 C0149521 \| chronic pancreatitis \| 2 C0016063 \| osteitis fibrosa \| 2 C0451641 \| urolithiasis \| 2 C0029405 \| brown tumour \| 1 C0017525 \| giant cell tumor \| 1 C0029405 \| osteitis fibrosa cystica \| 1 C0007095 \| carcinoid tumor \| 1 C0392525 \| renal lithiasis \| 1 C0342634 \| neonatal hypocalcemia \| 1 C0006663 \| calcinosis \| 1 C0030920 \| peptic ulcer disease \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:5)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1042636	22577108	4221	MEN1	umls:C0020502	BeFree	MEN1-related hyperparathyroidism: response to cinacalcet and its relationship with the calcium-sensing receptor gene variant Arg990Gly.	0.032494537	2012	CASR	3	122284922	A	G
rs1042636	22577108	846	CASR	umls:C0020502	BeFree	MEN1-related hyperparathyroidism: response to cinacalcet and its relationship with the calcium-sensing receptor gene variant Arg990Gly.	0.140603295	2012	CASR	3	122284922	A	G
rs201858689	24854525	846	CASR	umls:C0020502	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.	0.140603295	2014	CASR	3	122284257	G	T
rs75076352	9820617	5979	RET	umls:C0020502	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.	0.004614512	1998	RET	10	43114500	T	A,C,G
rs75996173	9820617	5979	RET	umls:C0020502	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.	0.004614512	1998	RET	10	43114501	G	A,C,T

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	546
Disease	hyperparathyroidism
Case	(Waiting for update.)

Web Analytics Made Easy - StatCounter