MCID: AMY004
MIFTS: 67

Amyloidosis malady

Genetic diseases, Rare diseases, Neuronal diseases, Nephrological diseases, Bone diseases, Blood diseases, Cancer diseases, Immune diseases categories

Summaries for Amyloidosis

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9Disease Ontology, 35MedlinePlus, 66Wikipedia, 34MalaCards
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MedlinePlus:35 Amyloidosis occurs when abnormal proteins called amyloids build up and form deposits. the deposits can collect in organs such as the kidney and heart. this can cause the organs to become stiff and unable to work the way they should. there are three main types of amyloidosis: primary - with no known cause secondary - caused by another disease, including some types of cancer familial - passed down through genes symptoms can vary, depending upon which organs are affected. treatment depends on the type of amyloidosis you have. the goal is to help with symptoms and limit the production of proteins. if another disease is the cause, it needs to be treated.

MalaCards: Amyloidosis, also known as amyloid disease, is related to hereditary amyloidosis and familial mediterranean fever. An important gene associated with Amyloidosis is GSN (gelsolin), and among its related pathways are A-beta Uptake and Degradation and A-beta Plaque Formation and APP Metabolism. The drugs acetylcysteine and colchicine and the compounds t-boc-flflf and fmet-ile-val-thr-leu-phe have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and kidney, and related mouse phenotypes are endocrine/exocrine gland and hematopoietic system.

Disease Ontology:9 An acquired metabolic disease that involves abnormal deposited of amyloid proteins in organs and/or tissues.

Wikipedia:66 In medicine, amyloidosis is a non-specific term that refers to a number of different diseases... more...

Aliases & Classifications for Amyloidosis

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9Disease Ontology, 11DISEASES, 46Novoseek, 35MedlinePlus, 63UMLS, 59SNOMED-CT, 41NCIt, 36MeSH, 28ICD9CM
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Classifications:



Aliases & Descriptions:

amyloidosis 9 11 46 35 63
amyloid disease 9


External Ids:

Disease Ontology9 DOID:9120
NCIt41 C2868
MeSH36 D000686
ICD9CM28 277.30, 277.3

Related Diseases for Amyloidosis

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Sources:
18GeneCards, 19GeneDecks
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Diseases in the Amyloidosis family:

Al Amyloidosis Amyloidosis Aa
Hereditary Amyloidosis Primary Localized Amyloidosis

Diseases related to Amyloidosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 510)
idRelated DiseaseScoreTop Affiliating Genes
1hereditary amyloidosis31.2TTR, APOA1, GSN
2familial mediterranean fever31.1SAA1, GSN
3familial transthyretin amyloidosis31.0TTR, APOA1, GSN
4amyloidosis, secondary30.8B2M, TTR, APOA1, SAA1
5rheumatoid arthritis30.8B2M, APOA1, SAA1, CST3, FPR2
6nephrotic syndrome30.8B2M, APOA1, FGA
7polyneuropathy30.7GSN, APOA2, TTR
8familial visceral amyloidosis30.7APOA1, LYZ, FGA
9alzheimer's disease30.6TTR, APP, CST3, GSN, FPR2
10finnish type amyloidosis30.6GSN, TTR
11cerebral amyloid angiopathy30.4CST3, APP, TTR
12carpal tunnel syndrome30.4TTR, B2M
13proteinuria30.4B2M, TTR, APOA1, APOA2, CST3, FGA
14leukemia30.2B2M, TTR, OSMR, LYZ, GSN, FPR1
15thromboembolism30.1FGA, APOA1
16amyloidosis, renal30.1TTR, APOA1, APOA2, SAA1
17deficiency anemia29.8B2M, TTR, SAA1
18amyloid tumor29.8B2M, TTR, APOA2, APP, CST3, GSN
19amyloid neuropathy29.7TTR, APOA1, GSN
20diabetes mellitus29.7B2M, APOA1, APOA2, CST3, FGA
21atherosclerosis29.7APOA1, APOA2, SAA1, CST3, FGA
22hypoalphalipoproteinemia29.7APOA2, APOA1
23sepsis29.6TTR, CST3, GSN, FPR1, FGA
24chronic kidney failure29.6B2M, TTR, APOA1, CST3, FGA
25insulin resistance29.5SAA1, APOA2, APOA1, TTR
26myocardial infarction29.5APOA1, APOA2, SAA1, CST3, FGA
27al amyloidosis11.1
28transthyretin amyloidosis10.8
29cerebritis10.7
30macular amyloidosis10.7
31myeloma10.7
32primary cutaneous amyloidosis10.7
33arthritis10.7
34multiple myeloma10.7
35hereditary cerebral hemorrhage with amyloidosis10.6
36primary localized amyloidosis10.6
37senile systemic amyloidosis10.6
38lichen amyloidosis10.6
39factor x deficiency10.6
40familial amyloidosis, finnish type10.5
41hepatitis10.5
42macroglossia10.5
43neuropathy10.4
44light chain deposition disease10.4
45glomerulonephritis10.4
46castleman's disease10.4
47amyloidosis aa10.4
48nodular cutaneous amyloidosis10.4
49multiple endocrine neoplasia10.3
50laryngitis10.3

Graphical network of the top 20 diseases related to Amyloidosis:



Diseases related to amyloidosis

Symptoms for Amyloidosis

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Drugs & Therapeutics for Amyloidosis

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Amyloidosis

Drug clinical trials:

Search ClinicalTrials for Amyloidosis

Search NIH Clinical Center for Amyloidosis

Search CenterWatch for Amyloidosis

Inferred drug relations via UMLS63/NDF-RT42:

Genetic Tests for Amyloidosis

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Anatomical Context for Amyloidosis

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34MalaCards
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MalaCards organs/tissues related to Amyloidosis:

34
Heart, Liver, Kidney, Bone, Brain, Bone marrow, Skin, Colon, B cells, Thyroid, Lung, Breast, Testes, Spinal cord, Tongue, Endothelial, Pancreatic islet, Salivary gland, Eye, Spleen, Lymph node, Tonsil, Small intestine, Testis, Prostate, T cells, Trachea, Myeloid, Monocytes, Pituitary

Animal Models for Amyloidosis or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Amyloidosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.8FGA, FPR1, GSN, APOA1, B2M
2MP:00053977.8B2M, OSMR, APOA1, IL31RA, GSN, FPR1
3MP:00053877.6B2M, APOA1, APP, IL31RA, GSN, FPR1
4MP:00053766.1FGA, B2M, TTR, APOA1, APOA2, APP

Publications for Amyloidosis

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53PubMed
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Articles related to Amyloidosis:

(show top 50)    (show all 2476)
idTitleAuthorsYear
1
High sensitivity cardiac troponin T in patients with immunoglobulin light chain amyloidosis. (24402772)
2014
2
Topical application of ankaferd hemostat in a patient with gastroduodenal amyloidosis complicated with gastrointestinal bleeding. (23751610)
2013
3
Microbiologically documented infections in patients undergoing high-dose melphalan and autologous stem cell transplantation for the treatment of light chain amyloidosis. (23279695)
2013
4
Chronic renal failure secondary to systemic amyloidosis associated with gastrointestinal stromal tumour. (23897208)
2013
5
Infliximab therapy for familial Mediterranean fever-related amyloidosis: case series with long term follow-up. (22673790)
2012
6
Intestinal amyloidosis with intractable diarrhea and intestinal pseudo-obstruction. (23018539)
2012
7
Tonsil amyloidosis revealing a WaldenstrAPm macroglobulinemia. (22197994)
2012
8
A new c.1845Aa89T of oncostatin M receptor-I^ mutation and slightly enhanced oncostatin M receptor-I^ expression in a Chinese family with primary localized cutaneous amyloidosis. (22062952)
2012
9
Rapidly progressive glomerulonephritis in a patient with renal amyloidosis: Case report and review of the literature. (23326051)
2012
10
A case of psoriasis with secondary amyloidosis, associated symbrachydactyly of the hand and a transverse deficiency of the foot. (22953651)
2012
11
Interaction between periodontal disease and systemic secondary amyloidosis: from inflammation to amyloidosis. (21043797)
2011
12
An unusual presentation of macular amyloidosis. (22068763)
2011
13
Functional correlates of N-terminal natriuretic peptide type B (NT-proBNP) response to therapy in cardiac light chain (AL) amyloidosis. (21838447)
2011
14
Metabolic phenotype in an AL amyloidosis transgenic mouse model. (21838426)
2011
15
Primary localized cutaneous nodular amyloidosis associated with CREST (calcinosis, Raynaud's phenomenon, esophageal motility disorders, sclerodactyly, and telangiectasia) syndrome. (20465653)
2010
16
Hypopigmented macular amyloidosis with or without hyperpigmentation. (19508574)
2009
17
Identification of an oncostatin M receptor mutation associated with familial primary cutaneous amyloidosis. (19466957)
2009
18
Low erythropoietin production in familial amyloidosis TTR V30M is not related with renal congophilic amyloid deposition. A clinicopathologic study of twelve cases. (18596378)
2008
19
Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever. (17469185)
2007
20
Bortezomib in the treatment of AL amyloidosis: targeted therapy? (18024367)
2007
21
Biochemical characterization of vitreous and cardiac amyloid in Ile84Ser transthyretin amyloidosis. (17062384)
2006
22
The formation and role of beta-amyloid peptides in neurons upon amyloidosis]. (16808166)
2006
23
Cardiac conduction alterations in a French family with amyloidosis of the Finnish type with the p.Asp187Tyr mutation in the GSN gene. (16258946)
2006
24
Senile systemic amyloidosis presenting with heart failure: a comparison with light chain-associated amyloidosis. (15983293)
2005
25
Cytokeratin expression in lichen amyloidosus and macular amyloidosis. (15096140)
2004
26
Metachronous development of nonamyloidogenic [lambda] light chain deposition disease and IgG heavy chain amyloidosis in the same patient. (14576484)
2003
27
Clinical and pathological studies of cardiac amyloidosis in transthyretin type familial amyloid polyneuropathy. (14986482)
2003
28
Diagnosis and treatment of Al amyloidosis. (16224395)
2003
29
Identification of a novel transthyretin Thr59Lys/Arg104His. A case of compound heterozygosity in a Chinese patient diagnosed with familial transthyretin amyloidosis. (12440486)
2002
30
Primary localized amyloidosis of the bladder: experience with dimethyl sulfoxide therapy. (12187212)
2002
31
Translocation T(4;14)(p16.3;q32) is a recurrent genetic lesion in primary amyloidosis. (11337357)
2001
32
Effect of hemodialysis membranes on beta 2-microglobulin amyloidosis. (11264777)
2001
33
A novel single-nucleotide polymorphism at the 5'-flanking region of SAA1 associated with risk of type AA amyloidosis secondary to rheumatoid arthritis. (11407685)
2001
34
Primary localized amyloidosis of the ureter and bladder managed by ileal interposition. (10708151)
2000
35
Distribution pattern of matrix metalloproteinases 1, 2, 3, and 9, tissue inhibitors of matrix metalloproteinases 1 and 2, and alpha 2-macroglobulin in cases of generalized AA- and AL amyloidosis. (11147173)
2000
36
Hereditary renal amyloidosis associated with variant lysozyme in a large English family. (10534505)
1999
37
Poor recovery and short survival of infused factor X in a case of acquired factor X deficiency and amyloidosis. (10544941)
1999
38
Treatment of AL amyloidosis with 4'-lodo-4'-deoxydoxorubicin: an update. (10025983)
1999
39
Obstructive sleep apnoea syndrome in hereditary gelsolin-related amyloidosis. (10389096)
1999
40
Local synthesis of amyloid fibril precursor in AL amyloidosis of the urinary tract. (9547006)
1998
41
Apolipoprotein E is present in primary localized cutaneous amyloidosis. (9740234)
1998
42
Transthyretin Ile 122 and cardiac amyloidosis in African-Americans. 2 case reports. (9068139)
1997
43
Is Alzheimer's disease an apolipoprotein E amyloidosis? (7715296)
1995
44
Expression of serum amyloid A genes in mink during induction of inflammation and amyloidosis. (8268220)
1993
45
Primary localized amyloidosis of the renal pelvis coexisting with transitional cell carcinoma: a case report. (1632328)
1992
46
Amyloidosis of the vitreous body. Possibilities of diagnosis]. (1786932)
1991
47
Severe secondary amyloidosis in a dog with dermatomyositis. (2474585)
1989
48
Generalized amyloidosis secondary to xanthogranulomatous pyelonephritis. (3816863)
1986
49
Secondary amyloidosis due to Schistosoma mansoni infection. (1247859)
1976
50
Amyloidosis associated with primary agammaglobulinemia, severe diarrhea and familial hypogammaglobulinemia. (4182999)
1969

Variations for Amyloidosis

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Expression for genes affiliated with Amyloidosis

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Amyloidosis

Search GEO for disease gene expression data for Amyloidosis.

Pathways for genes affiliated with Amyloidosis

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Sources:
51PathCards, 55R&D Systems, 39NCBI BioSystems Database, 56Reactome, 13EMD Millipore, 61Thomson Reuters, 52PharmGKB, 31KEGG
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Pathways related to Amyloidosis according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8APP, FPR2
29.6APP, CST3
3
Show member pathways
Vitamin B12 Metabolism39
9.6SAA1, APOA1
4
Show member pathways
9.5FGA, APP, APOA1
59.5APP, SAA1
69.4APOA2, APOA1
79.4APOA2, APOA1
8
Show member pathways
9.4APOA1, APOA2
9
Show member pathways
9.1FPR2, APP, SAA1
10
Show member pathways
9.1TTR, APOA1, APOA2
11
Show member pathways
8.7FPR1, FPR2, SAA1, APP
12
Show member pathways
7.2LYZ, GSN, CST3, TTR, SAA1, APP
13
Show member pathways
7.1FGA, FPR1, FPR2, APP, APOA2, APOA1
146.4LYZ, SAA1, CST3, FGA, GSN, APP

Compounds for genes affiliated with Amyloidosis

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30IUPHAR, 62Tocris Bioscience, 46Novoseek, 25HMDB, 52PharmGKB, 12DrugBank
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Compounds related to Amyloidosis according to GeneCards/GeneDecks:

(show top 50)    (show all 89)
idCompoundScoreTop Affiliating Genes
1t-boc-flflf3010.1FPR2, FPR1
2fmet-ile-val-thr-leu-phe3010.1FPR2, FPR1
3fmet-leu-phe3010.1FPR2, FPR1
4boc-mlf6210.0FPR2, FPR1
5wkymvm62 3011.0FPR2, FPR1
6wrw46210.0FPR2, FPR1
7mmk 16210.0FPR1, FPR2
8cyclosporin h46 3011.0FPR2, FPR1
9fmet-met-tyr-ala-leu-phe309.9FPR2, FPR1
10annexin i-(2-26)309.9FPR2, FPR1
11ginkgo469.9TTR, APP
12potassium permanganate469.9B2M, TTR
1325-hydroxyvitamin d469.8B2M, APOA1, TTR
1451-cr-edta469.7B2M, CST3
15an 69469.6FGA, B2M
16thioflavin t469.6TTR, GSN, B2M, APP
17polysulfone469.6B2M, FGA, CST3
18kininogen469.5CST3, APP, APOA1
19mspi469.5APOA2, APOA1, TTR
20latex469.4FGA, GSN, CST3
21cellulose acetate469.4FGA, TTR, B2M, CST3
22iohexol469.4CST3, FGA, B2M, APOA1
23uric acid46 2510.3APOA1, TTR, B2M, CST3
24aspirin46 52 30 2512.3APP, FGA, FPR2, APOA1, TTR
25captopril46 62 52 30 1213.3B2M, CST3, APP, APOA1
26endotoxin469.3FGA, FPR1, GSN, SAA1
27folate469.2APP, TTR, B2M, CST3
28valine469.1B2M, SAA1, APP, TTR
29testosterone46 62 25 1212.1GSN, TTR, APOA1, APP, B2M
30pge2469.0B2M, FPR2, FPR1, FGA, APOA1
31lactate469.0B2M, TTR, APOA1, CST3, FGA
32vitamin a46 25 1211.0APP, TTR, B2M, CST3, APOA1
33vitamin b12469.0FPR1, CST3, APOA1, B2M, TTR
34cyclosporin a46 30 6210.9B2M, TTR, APP, CST3, FPR1
35aspartate468.8APOA1, APP, CST3, GSN, B2M, TTR
36methionine468.8TTR, APOA2, CST3, GSN
37creatinine468.7APOA1, TTR, CST3, B2M, APP, FGA
38heparin46 30 25 1211.7FGA, APOA2, APP, GSN, FPR1
39leucine468.5FPR1, TTR, APOA2, CST3, GSN
40glutamine468.5B2M, CST3, APP, TTR, APOA2
41dexamethasone46 52 30 1211.1TTR, APOA1, APP, SAA1, CST3, FPR1
42retinoic acid46 259.1APP, GSN, FPR1, TTR, APOA1, APOA2
43arginine467.9TTR, APP, SAA1, CST3, APOA2
44alanine467.8APP, APOA1, TTR, B2M, GSN, CST3
45glucose467.7CST3, SAA1, APOA2, TTR, B2M, GSN
46fibrinogen467.5FGA, FPR1, GSN, CST3, SAA1, APOA2
47cholesterol46 30 25 1210.3APP, APOA2, APOA1, TTR, B2M, CST3
48calcium46 52 25 1210.2FGA, FPR2, B2M, SAA1, CST3, GSN
49lipid467.0FPR2, APOA1, APOA2, APP, SAA1, CST3
50serine466.9FPR1, GSN, APOA2, CST3, TTR, B2M

GO Terms for genes affiliated with Amyloidosis

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17Gene Ontology
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Cellular components related to Amyloidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endocytic vesicle lumenGO:0716829.6SAA1, APOA1
2spherical high-density lipoprotein particleGO:0343669.4APOA1, APOA2
3very-low-density lipoprotein particleGO:0343619.3APOA1, APOA2
4blood microparticleGO:0725629.0APOA1, FGA, GSN, APOA2
5high-density lipoprotein particleGO:0343648.9APOA2, SAA1, APOA1
6endoplasmic reticulum lumenGO:0057888.6B2M, APOA2, APOA1
7extracellular spaceGO:0056158.5LYZ, APOA1, TTR, B2M, CST3, FGA
8plasma membraneGO:0058867.8APOA1, B2M, APP, IL31RA, FPR2, FPR1
9extracellular vesicular exosomeGO:0700626.8FGA, GSN, CST3, LYZ, SAA1, APP
10extracellular regionGO:0055766.6FGA, B2M, TTR, APOA1, APOA2, APP

Biological processes related to Amyloidosis according to GeneCards/GeneDecks:

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1platelet degranulationGO:0025769.8APOA1, FGA, APP
2negative regulation of very-low-density lipoprotein particle remodelingGO:0109039.7APOA1, APOA2
3negative regulation of lipase activityGO:0601929.7APOA2, APOA1
4regulation of intestinal cholesterol absorptionGO:0303009.7APOA2, APOA1
5protein oxidationGO:0181589.7APOA2, APOA1
6negative regulation of cytokine secretion involved in immune responseGO:0027409.7APOA1, APOA2
7high-density lipoprotein particle assemblyGO:0343809.6APOA1, APOA2
8high-density lipoprotein particle clearanceGO:0343849.6APOA2, APOA1
9peptidyl-methionine modificationGO:0182069.6APOA1, APOA2
10positive regulation of cholesterol esterificationGO:0108739.6APOA2, APOA1
11phospholipid effluxGO:0337009.5APOA1, APOA2
12high-density lipoprotein particle remodelingGO:0343759.5APOA2, APOA1
13retina homeostasisGO:0018959.5B2M, LYZ
14reverse cholesterol transportGO:0436919.4APOA1, APOA2
15retinoid metabolic processGO:0015239.4APOA2, APOA1, TTR
16cholesterol effluxGO:0333449.4APOA2, APOA1
17lipoprotein metabolic processGO:0421579.4APOA2, APOA1
18cholesterol metabolic processGO:0082039.3APOA1, APP, APOA2
19phototransduction, visible lightGO:0076039.3APOA2, APOA1, TTR
20phosphatidylcholine biosynthetic processGO:0066569.3APOA1, APOA2
21platelet activationGO:0301689.3APP, SAA1, FGA, APOA1

Molecular functions related to Amyloidosis according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1N-formyl peptide receptor activityGO:0049829.8FPR1, FPR2
2apolipoprotein receptor bindingGO:0341909.6APOA2, APOA1
3high-density lipoprotein particle receptor bindingGO:0706539.6APOA1, APOA2
4phosphatidylcholine-sterol O-acyltransferase activator activityGO:0602289.5APOA2, APOA1
5lipase inhibitor activityGO:0551029.5APOA2, APOA1
6high-density lipoprotein particle bindingGO:0080359.5APOA2, APOA1
7cholesterol transporter activityGO:0171279.4APOA2, APOA1
8cholesterol bindingGO:0154859.4APOA2, APOA1
9beta-amyloid bindingGO:0015409.4CST3, APOA1
10identical protein bindingGO:0428029.1APP, B2M, TTR, APOA1, LYZ
11protein bindingGO:0055156.7TTR, FGA, FPR1, GSN, CST3, B2M

Products for genes affiliated with Amyloidosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Amyloidosis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet