Summaries for Hypercalciuria

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44Wikipedia, 22MalaCards
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Wikipedia: Hypercalciuria or hypercalcinuria is the condition of elevated calcium in the urine. Chronic...44 more...

MalaCards: Hypercalciuria is related to hypophosphatemic rickets with hypercalciuria and hereditary hypophosphatemic rickets with hypercalciuria. An important gene associated with Hypercalciuria is CLDN16 (claudin 16), and among its related pathways are Cell adhesion_Tight junctions and Development_Hedgehog and PTH signaling pathways in bone and cartilage development. The compounds dmsa and aprotinin have been mentioned in the context of this disorder. Affiliated tissues include kidney, skin and monocytes, and related mouse phenotypes are endocrine/exocrine gland and craniofacial.

Aliases & Descriptions for Hypercalciuria

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7diseasecard, 32Novoseek , 43UMLS
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hypercalciuria 7 32 43

Related Diseases for Hypercalciuria

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13GeneCards, 14GeneDecks
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Diseases related to hypercalciuria by text searches and GeneDecks gene sharing:

(show top 50)    (show all 557)
idRelated DiseaseScoreTop Affiliating Genes
1hypophosphatemic rickets with hypercalciuria33.3FGF23, SLC34A3, SLC34A1
2hereditary hypophosphatemic rickets with hypercalciuria32.7FGF23, SLC34A3, SLC34A1
3hereditary hypophosphatemic rickets32.0FGF23, SLC34A3, SLC34A1
4hypercalciuria, absorptive31.7VDR, CASR, HCA1
5hypomagnesemia31.1REN, CLCNKB, CLDN16, CLDN19, BGLAP, MT-ND4L
6nephrocalcinosis30.8LRP2, NAGLU, CLCNKB, CLDN16, CLCN5, CLDN19
7dent disease30.5LRP2, REN, CLCNKB, CLDN16, CLCN5, CLCNKA
8rickets29.9VDR, BGLAP, FGF23, IL6, ALB, CASR
9bartter syndrome antenatal type 228.4REN, KCNJ1, SLC12A1
10nephrolithiasis27.7BSND, NAGLU, VDR, CLCNKB, CLDN16, CLCN5
11root resorption27.4CLCN5, IL1B, CALCA, TNFSF11
12hypoparathyroidism26.9NAGLU, VDR, BGLAP, FGF23, CASR, CALCA
13pseudohypoaldosteronism26.7REN, KCNJ1, TRPV5, TRPC5, TRPV6, SLC12A1
14bartter disease26.5REN, VDR, CASR, CALCA, PTH, SPG7
15proteinuria25.9LRP2, REN, NAGLU, VDR, CLCN5, B2M
16hypocalcemia25.4VDR, CLDN16, BGLAP, FGF23, ALB, CASR
17hypercalcemia23.3KL, VDR, BGLAP, B2M, FGF23, METTL1
18osteoporosis20.3KL, VDR, BGLAP, B2M, MIP, FGF23
19hypertension18.5KL, REN, BSND, NAGLU, VDR, CLCNKB
20hyperparathyroidism, neonatal severe primary13.8CASR, NR1I3, PRKAR1A
21familial hypocalciuric hypercalcemia13.8CASR, SPG7, NR1I3
22vitamin d-dependent rickets type ii13.7VDR, BGLAP, PTH
23nephrogenic diabetes insipidus13.7MIP, AQP2, CASR, SLC12A1
24bartter syndrome type 413.7BSND, CLCNKB, CLCNKA
25jansen's metaphyseal chondrodysplasia13.7FGF23, PTH, PTHLH
26urinary tract obstruction13.7NAGLU, B2M, AMBP
27metaphyseal chondrodysplasia13.7FGF23, PTH, PTHLH
28bartter syndrome type 4b13.7CLCNKB, CLCNKA
29parathyroid disorders13.7PTH, PTHLH
30amyloid tumor13.7B2M, CALCA
31idiopathic juvenile osteoporosis13.7BGLAP, CALCA, PTH
32paget's disease of bone13.7BGLAP, B2M, CALCA
33oncogenic osteomalacia13.7FGF23, CALCA, PTH
34mucinous tubular and spindle renal cell carcinoma13.7NAGLU, CLCN5, B2M, SLC12A3
35pseudohypoparathyroidism type ib13.6BGLAP, PTH, PTHLH
36polycystic kidney disease, autosomal dominant13.6REN, AQP2, SLC12A1, ADCY10
37renal tubular acidosis13.6B2M, ATP6V1B1, OCRL
38bartter syndrome type 313.6REN, CLCNKB, KCNJ1, SLC12A1, SLC12A3
39familial isolated hyperparathyroidism13.6CASR, PTH, GAST
40oculocerebrorenal syndrome13.6LRP2, NAGLU, OCRL
41aminoaciduria13.6CLCN5, B2M, OCRL, SLC34A1
42mccune albright syndrome13.6BGLAP, FGF23, PTHLH, PRKAR1A, SLC34A1
43x-linked hypophosphatemia13.5VDR, CLCN5, FGF23, CYP24A1, SLC34A3, SLC34A1
44hypoparathyroidism, autosomal dominant13.5CASR, PTH
45hyperostosis13.5KL, BGLAP, FGF23, PTH
46bartter syndrome, type 213.5REN, KCNJ1
47parathyroid carcinoma13.5CASR, CALCA, PTH
48osteitis fibrosa13.5BGLAP, B2M, CASR, CALCA, PTH
49osteopenia/osteoporosis13.5BGLAP, CALCA, TNFSF11
50tumoral calcinosis, hyperphosphatemic13.5KL, FGF23

Graphical network of the top 20 diseases related to hypercalciuria:



Graphical network of diseases related to hypercalciuria

Clinical Features for Hypercalciuria

Drugs & Therapeutics for Hypercalciuria

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4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
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Genetic Tests for Hypercalciuria

Anatomical Context for Hypercalciuria

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22MalaCards
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MalaCards organs/tissues related to hypercalciuria:

22
Kidney, Skin, Monocytes

Phenotypes for genes affiliated with Hypercalciuria

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25MGI
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Publications for genes affiliated with Hypercalciuria

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35PubMed
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Articles related to hypercalciuria:

(show top 50)    (show all 85)
idTitleAuthorsYearAffiliating Genes
1A novel mutation of the claudin 16 gene in familial h ypomagnesemia with hypercalciuria and nephrocalcinosis mimicking rickets. (21848011)Kasapkara C.S.... Hasanoglu A.2011CLDN16
2Hypophosphatemic rickets with hypercalciuria due to m utation in SLC34A3/type IIc sodium-phosphate cotransporter: presentation as hyp ercalciuria and nephrolithiasis. (19820004)Tencza A.L.... Levine M.A.2009SLC34A3
3TRPV5 gene polymorphisms in renal hypercalciuria. (19131347)Renkema K.Y.... Hoenderop J.G.2009TRPV5
4Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC): compound heterozygous mutation in the claudin 16 (CLDN16) gene. (18816383)Hampson G.... Scoble J.2008CLDN16
5Familial hypomagnesemia with hypercalciuria and nephrocalcinosis in 2 sisters. (18327378)Al-Elq A.H.2008CLDN16
6Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: report of three Turkish siblings. (18253757)Peru H.... Konrad M.2008CLDN16
7A novel missense mutation in SLC34A3 that causes here ditary hypophosphatemic rickets with hypercalciuria in humans identifies threon ine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc . (18480181)Jaureguiberry G.... Bergwitz C.2008SLC34A3
8Update on primary hypercalciuria from a genetic perspective. (18343451)Vezzoli G.... Gambaro G.2008VDR, CASR, CLCN5
9CLDN16 genotype predicts renal decline in familial hypomagnesemia with hypercalciuria and nephrocalcinosis. (18003771)Konrad M.... Schaller A.2008CLDN16
10R990G polymorphism of calcium-sensing receptor does produce a gain-of-function and predispose to primary hypercalciuria. (17332735)Vezzoli G.... Soldati L.2007CASR
11WNK4 enhances TRPV5-mediated calcium transport: potential role in hypercalciuria of familial hyperkalemic hypertension caused by gene mutation of WNK4. (17018846)Jiang Y.... Peng J.B.2007TRPV5, WNK4
12An unusual patient with hypercalciuria, recurrent nephrolithiasis, hypomagnesemia and G227R mutation of Paracellin-1. An unusual patient with hypercalciuria and hypomagnesemia unresponsive to thiazide diuretics. (16804318)Kutluturk F.... Ozbey N.2006CLDN16
13Hypercalciuria in patients with CLCN5 mutations. (16807762)Ludwig M.... Bokenkamp A.2006CLCN5
14SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium- phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis. (16358214)Bergwitz C.... Jueppner H.2006SLC34A3
15Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. (16358215)Lorenz-Depiereux B.... Strom T.M.2006FGF23, SLC34A3
16A family with autosomal dominant hypocalcaemia with hypercalciuria (ADHH): mutational analysis, phenotypic variability and treatment challenges. (16128246)Burren C.P.... Thakker R.V.2005CASR
17Renal function in space: the link between osteoporosis, hypercalciuria, and aquaporins. (15648031)Gaspare De Santo N.... Drummer C.2005AQP2, MIP
18Hypomagnesemia with hypercalciuria and nephrocalcinosis: case report and a family study. (15856319)Tasic V.... Konrad M.2005CLDN16
19Hypercalciuria (16357816)PAcrimenis P.... Vantyghem M.C.2005CASR
20Familial hypomagnesemia with hypercalciuria and nephrocalcinosis associated with CLDN16 mutations. (16047219)Kang J.H.... Choi Y.2005CLDN16
21Hypercalciuria and kidney calcifications in terminal 4q deletion syndrome: further evidence for a putative gene on 4q. (15057984)GiuffrA" M.... Corsello G.2004CALCA, CASR
22Peripheral blood monocyte vitamin D receptor levels are elevated in patients with idiopathic hypercalciuria. (15472188)Favus M.J.... Coe F.L.2004VDR
23Inherited hypercalciuric syndromes: Dent's disease (CLC-5) and familial hypomagnesemia with hypercalciuria (paracellin-1). (14730510)Knohl S.J.... Scheinman S.J.2004CLDN16
24Urinary excretion of endothelin-1 in children with absorptive idiopathic hypercalciuria. (14523636)Nicolaidou P.... Gourgiotis D.2003EDN1
25The ClC-5 knockout mouse model of Dent's disease has renal hypercalciuria and increased bone turnover. (12674322)Silva I.V.... Guggino S.E.2003BGLAP
26Loss of heterozygosity in parathyroid glands of familial hypercalcemia with hypercalciuria and point mutation in calcium receptor. (12161540)Szabo E.... Rastad J.2002PRKAR1A
27Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis. (11518780)Weber S.... Konrad M.2001CLDN16
28No evidence for point mutations of the calcium-sensing receptor in familial idiopathic hypercalciuria. (11733622)Lerolle N.... Rondeau E.2001PRKAR1A, CASR
29Hereditary hypophosphatemic rickets with hypercalciuria is not caused by mutations in the Na/Pi cotransporter NPT2 gene. (11181798)Jones A.... Tenenhouse H.2001SLC34A1
30Autosomal recessive hypophosphataemic rickets with hypercalciuria is not caused by mutations in the type II renal sodium/phosphate cotransporter gene. (11208993)van den Heuvel L.... Monnens L.2001SLC34A1
31Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene. (10878661)Weber S.... Konrad M.2000CLDN16
32Isolated hypercalciuria with mutation in CLCN5: relevance to idiopathic hypercalciuria. (10620204)Scheinman S.J.... Thakker R.V.2000CLCN5
33Evaluation of the calcium-sensing receptor gene in idiopathic hypercalciuria and calcium nephrolithiasis. (10886547)Petrucci M.... Bonnardeaux A.2000CASR, NR1I3
34Microscopic nephrocalcinosis and hypercalciuria in ne phrotic syndrome. (11112210)Mocan H.... Kuzey G.M.2000ALB
35Atrial natriuretic peptide in children with idiopathic hypercalciuria. (10955944)Nicolaidou P.... Karpathios T.2000REN
36Investigation of relationship between idiopathic hypercalciuria and urinary enzyme activities. (11229247)Kavukcu S.... Tavli V.1998NAGLU, SLPI, SLC17A5
374q33-qter deletion and absorptive hypercalciuria: report of two unrelated girls. (9637423)Imamura K.... Tochimaru H.1998HCA1
38Normal vitamin D receptor concentration and responsiveness to 1, 25-dihydroxyvitamin D3 in skin fibroblasts from patients with absorptive hypercalciuria. (9705566)Zerwekh J.E.... Pak C.Y.1998VDR
39Mutations of CLCN5 in Japanese children with idiopathic low molecular weight proteinuria, hypercalciuria and nephrocalcinosis. (9328929)Akuta N.... Thakker R.V.1997CLCN5
40Low bone mineral density and peripheral blood monocyte activation profile in calcium stone formers with idiopathic hypercalciuria. (8989228)Ghazali A.... Fournier A.1997TNF, IL6, IL1B
41Acute gentamicin-induced hypercalciuria and hypermagn esiuria in the rat: dose-response relationship and role of renal tubular injury . (9351517)Parsons P.P.... Old S.1997NAGLU
42Infantile hypophosphatasia: treatment options to control hypercalcemia, hypercalciuria, and chronic bone demineralization. (9152296)Barcia J.P.... Langman C.B.1997CALCA
43Bone mineral density in pediatric patients with idiop athic hypercalciuria. (9323283)GarcA-a-Nieto V.... Rodrigo M.D.1997BGLAP
44Renal function in children with hypercalciuria. (9339112)Tekin N.... Torun M.1997NAGLU
45Bartter's syndrome, hypokalemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. (8640224)Simon D.B.... Lifton R.P.1996SLC12A1
46Osteocalcin response to calcium-restricted diet: a helpful tool for the workup of hypercalciuria. (8854076)Strohmaier W.L.... Bichler K.H.1996BGLAP
47A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor. (8813042)Pearce S.H.S.... Thakker R.V.1996CASR
48Hypercalciuria in children severely affected with osteogenesis imperfecta. (2066859)Chines A.... Whyte M.P.1991BGLAP
49Atrial natriuretic factor levels in renal stone patients with idiopathic hypercalciuria and in healthy controls: the effect of an oral calcium load. (2137191)Halabe A.... Sutton R.A.1990NPPA
50Increased monocyte interleukin-1 activity and decreas ed vertebral bone density in patients with fasting idiopathic hypercalciuria. (2370292)Pacifici R.... Hruska K.1990BGLAP

Expression for genes affiliated with Hypercalciuria

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1BioGPS
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Expression patterns in normal tissues for genes affiliated with Hypercalciuria

Pathways for genes affiliated with Hypercalciuria

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41Thomson Reuters, 10EMD Millipore, 20KEGG
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Compounds for genes affiliated with Hypercalciuria

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32Novoseek , 9DrugBank, 18HMDB, 42Tocris Bioscience, 34PharmGKB
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Compounds related to hypercalciuria according to GeneDecks:

(show top 50)    (show all 237)
idCompoundScoreTop Affiliating Genes
1dmsa32 10.1CALCA, AMBP, B2M, NAGLU, VDR
2aprotinin32 9 9 12.1LRP2, SLPI, AMBP, NAGLU
3alfacalcidol32 9 9 12.0VDR, SLPI, CYP24A1, CALCA, BGLAP
424,25-dihydroxyvitamin d332 10.0ADCY10, CYP24A1, CALCA, VDR, BGLAP
5alendronate32 9 9 11.7CALCA, TNFSF11, PTH, PTHLH, SLPI, VDR
6phosphorus32 9.7NAGLU, VDR, B2M, FGF23, CASR, CALCA
7hanp32 9.6REN, B2M, VDR, NPPA, EDN1, AMBP
825-hydroxyvitamin d32 9.6PTHLH, CYP24A1, SLPI, PTH, TNFSF11, VDR
9fluoride32 9.6NAGLU, CALCA, SLPI, B2M, SLC17A5, ADCY10
10glucose32 9.5PTH, GAST, PRKAR1A, PTHLH, TJP1, MIP
11chlorine32 18 10.4BSND, CLCN5, CLCNKA, B2M, CALCA, CLCNKB
12pamidronate32 9 9 11.3BGLAP, B2M, IL6, CASR, CALCA, TNFSF11
13captopril32 42 9 9 12.3REN, NPPA, CALCA, ALB, B2M
14thiazide32 9.3REN, VDR, BGLAP, CASR, CALCA, AGTR1
15hydrochlorothiazide32 34 9 18 9 13.2REN, VDR, CLDN16, BGLAP, AQP2, ALB
16inulin32 9.2TJP1, ALB, REN, NAGLU, B2M, AMBP
17pge232 9.1REN, AQP2, CASR, TNFSF11, CYP24A1, EDN1
181,25 dihydroxy vitamin d332 9.0SLC34A1, VDR, BGLAP, FGF23, CASR, CALCA
19clodronate32 9 9 11.0PTHLH, BGLAP, IL1B, IL6, SLPI, CALCA
20arginine32 8.9FGF23, CASR, AQP2, MIP, KCNJ1, VDR
21testosterone32 9 18 9 11.9SLPI, PTHLH, TNFSF11, BGLAP, PTH, NR1I3
22enalapril32 9 9 10.7NPPA, REN, NAGLU, AMBP, ALB, EDN1
23urea32 9 18 9 11.7NAGLU, B2M, MIP, AQP2, AMBP, ALB
24inositol 1,4,5 trisphosphate32 8.7CASR, OCRL, TRPV6, PTH, ADCY10, NR1I3
25furosemide32 42 34 9 18 9 13.7REN, BSND, NAGLU, BGLAP, AQP2, ALB
26nifedipine32 9 9 10.7GAST, REN, NPPA, AGTR1, EDN1, PTHLH
27creatinine32 8.5REN, NAGLU, VDR, CLCN5, FGF23, AQP2
28nacl32 8.5AQP2, MIP, CASR, NPPA, SLPI, SLC12A1
29thyroxine32 18 9.4ALB, REN, GAST, SLC17A5, PTH, CALCA
30forskolin32 42 9 9 11.1CALCA, AGTR1, CYP24A1, PTHLH, PTH, TNFSF11
31chloride32 8.1SLC17A5, WNK1, WNK4, SLC12A3, SLC12A1, REN
32hydrocortisone32 9 9 9.6BGLAP, IL1B, PTHLH, IL6, AQP2, GAST
33norepinephrine32 9 18 9 10.6PTHLH, IL6, AGTR1, REN, NPPA, SLPI
34magnesium32 9 18 9 10.6PRKAR1A, SLPI, SLC12A1, SLC17A5, WNK1, WNK4
35prostaglandin32 7.3NPPA, AGTR1, PTH, AMBP, IL1B, PTHLH
36alanine32 7.2GAST, SLC17A5, SLC12A3, SLPI, AGTR1, NR1I3
37genistein32 9 18 9 9.8SLPI, VDR, B2M, AGTR1, EDN1, CYP24A1
38potassium32 9 18 9 9.8PTH, TNFSF11, CASR, ALB, AMBP, AQP2
39indomethacin32 9 9 8.8CALCA, TNF, TNFSF11, TJP1, PTHLH, EDN1
40cycloheximide32 6.8TJP1, TNF, IL6, IL1B, B2M, TNFSF11
41cyclosporin a32 42 7.7NR1I3, TNFSF11, TNF, CALCA, CASR, AMBP
42vitamin d32 6.5LRP2, NAGLU, VDR, BGLAP, B2M, FGF23
43histamine32 18 7.5ADCY10, SLPI, EDN1, TJP1, TNF, ALB
44dexamethasone32 42 34 9 9 10.4IL1B, MIP, BGLAP, VDR, REN, GAST
45serine32 6.2AGTR1, VDR, AMBP, CASR, TNFSF11, TNF
46calcitriol32 42 9 18 9 9.9GAST, SLC34A1, SLPI, LRP2, NR1I3, CYP24A1
47vegf32 5.9IL6, GAST, SLPI, PTH, TNF, TNFSF11
48nitric oxide32 9 18 9 8.7CALCA, IL6, PTHLH, EDN1, AGTR1, IL1B
49sodium32 18 6.6WNK4, WNK1, SLC17A5, SLC12A3, SLC12A1, SLC34A1
50calcium32 9 18 9 6.7REN, KL, LRP2, CLDN16, GAST, ADCY10

GO Terms for genes affiliated with Hypercalciuria

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12Gene Ontology
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Cellular components related to hypercalciuria according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1apical plasma membraneGO:0163249.8LRP2, ATP6V1B1, AQP2, TRPV5, SLC34A3, SLC12A3
2basolateral plasma membraneGO:0163239.5SLC34A1, TJP1, AQP2, ATP6V1B1, CLDN19, BSND
3integral to plasma membraneGO:0058877.0KL, BSND, SLC12A3, SLC34A1, AGTR1, TNFSF11
4extracellular regionGO:0055766.2ALB, KL, BGLAP, B2M, FGF23, IL1B
5extracellular spaceGO:0056156.1EDN1, KL, REN, BGLAP, B2M, FGF23

Biological processes related to hypercalciuria according to GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of vitamin D 24-hydroxylase activityGO:01098010.5FGF23, VDR
2vitamin D receptor signaling pathwayGO:07056110.4VDR, CYP24A1
3sodium ion transportGO:00681410.3SLC34A3, SLC34A1, SLC12A1, SLC12A3
4regulation of cellular processGO:05079410.2WNK1, WNK4
5cAMP metabolic processGO:04605810.2PTH, PTHLH
6excretionGO:00758810.1CLCNKB, AQP2, ATP6V1B1, KCNJ1, CLCNKA, CLCN5
7renin-angiotensin regulation of aldosterone productionGO:00201810.0AGTR1, REN
8vitamin D catabolic processGO:0423699.9FGF23, CYP24A1
9elevation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathwayGO:0514829.9CALCA, EDN1, AGTR1
10monocyte chemotaxisGO:0025489.8TNFSF11, CALCA, IL6
11response to vitamin DGO:0332809.7BGLAP, IL1B, CYP24A1, LRP2
12ion transportGO:0068119.6WNK4, WNK1, SLC17A5, SLC12A3, SLC12A1, SLC34A3
13agingGO:0075689.5CALCA, AQP2, IL1B, VDR, KL, LRP2
14sequestering of triglycerideGO:0307309.2IL1B, TNF
15positive regulation of calcidiol 1-monooxygenase activityGO:0605599.2TNF, IL1B
16chronic inflammatory response to antigenic stimulusGO:0024399.0IL1B, TNF
17transmembrane transportGO:0550859.0ALB, SLC17A5, SLC12A3, SLC12A1, SLC34A3, PRKAR1A

Molecular functions related to hypercalciuria according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated chloride channel activityGO:00524710.1CLCNKB, CLCN5, CLCNKA
2peptide hormone receptor bindingGO:0514289.6PTH, PTHLH, NPPA
3hormone activityGO:0051798.8KL, GAST, NPPA, EDN1, PTHLH, PTH

Sources for Hypercalciuria

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS