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MCID: CRY004
MIFTS: 46

Cryoglobulinemia malady

Categories: Rare diseases, Immune diseases
Genes Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Cryoglobulinemia

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Aliases & Descriptions for Cryoglobulinemia:

Name: Cryoglobulinemia 12 50 52 42 14 69
Cryoimmunoglobulinaemia 12

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Immune diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

Disease Ontology 12 DOID:2917
ICD10 33 D89.1
MeSH 42 D003449
NCIt 47 C26736
SNOMED-CT 64 30911005
UMLS 69 C0010403
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Summaries for Cryoglobulinemia

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NIH Rare Diseases : 50 cryoglobulinemia is a type of vasculitis that is caused by abnormal proteins (antibodies) in the blood called "cryoglobulins." at cold temperatures, these proteins become solid or gel-like, which can block blood vessels and cause a variety of health problems. many people affected by this condition will not experience any unusual signs or symptoms. when present, symptoms vary but may include breathing problems; fatigue; glomerulonephritis; joint or muscle pain; purpura; raynaud's phenomenon; skin death; and/or skin ulcers. in some cases, the exact underlying cause is unknown; however, cryoglobulinemia can be associated with a variety of conditions including certain types of infection; chronic inflammatory diseases (such as autoimmune disease); and/or cancers of the blood or immune system. treatment varies based on the severity of the condition, the symptoms present in each person and the underlying cause. last updated: 5/7/2015

MalaCards based summary : Cryoglobulinemia, also known as cryoimmunoglobulinaemia, is related to endocarditis and mesangial proliferative glomerulonephritis. An important gene associated with Cryoglobulinemia is CD40LG (CD40 Ligand), and among its related pathways/superpathways are Cytokine Signaling in Immune system and PEDF Induced Signaling. The drugs rituximab and Antirheumatic Agents have been mentioned in the context of this disorder. Affiliated tissues include b cells, skin and liver, and related phenotypes are hematopoietic system and immune system

Disease Ontology : 12 A hypersensitivity reaction type IV disease that involves large amounts of cryoglobulins in the blood which become thick or gel-like in cold temperatures.

Wikipedia : 71 Cryoglobulinemia or cryoglobulinaemia is a medical condition in which the blood contains large amounts... more...

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Related Diseases for Cryoglobulinemia

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Diseases related to Cryoglobulinemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 243)
id Related Disease Score Top Affiliating Genes
1 endocarditis 29.7 CD40LG CD79A
2 mesangial proliferative glomerulonephritis 29.5 CD40LG CD79A
3 homocystinuria 29.5 CD40LG CD79A
4 cryoglobulinemia, familial mixed 12.2
5 type ii mixed cryoglobulinemia 11.9
6 mixed cryoglobulinemia type iii 11.9
7 simple cryoglobulinemia 11.8
8 hepatitis c virus 11.3
9 hepatitis 10.7
10 hepatitis c 10.7
11 vasculitis 10.4
12 primary laryngeal lymphangioma 10.3 CXCL10 CXCL11
13 amyotrohpic lateral sclerosis type 22 10.3 CD40LG CXCL10
14 paramyloidosis 10.3 CD40LG CD5
15 hyperparathyroidism, primary, caused by water clear cell hyperplasia 10.3 CD40LG TNFSF13B
16 dyskeratosis congenita 10.3 CD40LG CXCL10
17 alcoholic neuropathy 10.3 CD40LG CD79A
18 camptodactyly vertebral fusion 10.3 CD40LG CD79A
19 spinal polio 10.3 CD40LG CD79A
20 rabies 10.3 CD40LG CD79A
21 unilateral retinoblastoma 10.3 CD40LG CD79A
22 delta chain disease 10.3 CD40LG CD79A
23 discitis 10.3 CD40LG CD79A
24 spinal canal and spinal cord meningioma 10.3 CD40LG CD79A
25 trichostrongyloidiasis 10.3 CD40LG CD79A
26 colloid adenoma 10.2 CD40LG CD79A
27 heart septal defect 10.2 CD40LG CD79A
28 cutaneous polyarteritis nodosa 10.2 CD40LG CD79A
29 lymphoma 10.2
30 mild pre-eclampsia 10.2 CD40LG CD79A
31 retinal microaneurysm 10.2 CD40LG CD79A
32 pediatric meningioma 10.2 CD40LG CD79A
33 tonsil cancer 10.2 CD40LG CD79A
34 indomethacin antenatal infection 10.2 CD40LG CD79A
35 postcricoid region cancer 10.2 CD40LG CD79A
36 beach ear 10.2 CD40LG CD79A
37 acute kidney tubular necrosis 10.2 CD40LG CD79A
38 atheroembolism of kidney 10.2 CD40LG CD79A
39 partial sensory epilepsy 10.2 CD40LG CD79A
40 ritscher-schinzel syndrome 1 10.2 CD40LG CD79A
41 diabetic angiopathy 10.2 CD40LG CD79A
42 muscular dystrophy 10.2 CD40LG CD79A
43 dumping syndrome 10.2 CD40LG CD79A
44 striatonigral degeneration 10.2 CD40LG CD79A
45 ciliary body spindle cell melanoma 10.2 CD40LG CD79A
46 purulent endophthalmitis 10.2 CD40LG CD79A
47 mu chain disease 10.2 CD40LG CD79A
48 generalized atherosclerosis 10.2 CD40LG CD79A
49 bursitis 10.2 CD40LG CD79A
50 syphilis 10.2 CD40LG CD79A

Graphical network of the top 20 diseases related to Cryoglobulinemia:



Diseases related to Cryoglobulinemia
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Symptoms & Phenotypes for Cryoglobulinemia

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MGI Mouse Phenotypes related to Cryoglobulinemia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.65 CD40LG CD5 CD79A CD81 CR2 CXCL10
2 immune system MP:0005387 9.32 CD27 CD40LG CD5 CD79A CD81 CR2
Sources

Drugs & Therapeutics for Cryoglobulinemia

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Drugs for Cryoglobulinemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 29)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
rituximab Approved Phase 4,Phase 2,Phase 3 174722-31-7 10201696
2 Antirheumatic Agents Phase 4,Phase 2,Phase 3
3
Ledipasvir Approved Phase 2, Phase 3 1256388-51-8 67505836
4
Sofosbuvir Approved Phase 2, Phase 3 1190307-88-0 45375808
5 Anti-Infective Agents Phase 2, Phase 3,Phase 1
6 Antiviral Agents Phase 2, Phase 3,Phase 1
7 Ledipasvir, sofosbuvir drug combination Phase 2, Phase 3
8
Aldesleukin Approved Phase 1, Phase 2 85898-30-2, 110942-02-4
9
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
10 Analgesics Phase 1, Phase 2
11 Analgesics, Non-Narcotic Phase 1, Phase 2
12 Interleukin-2 Phase 1, Phase 2
13 Peripheral Nervous System Agents Phase 1, Phase 2
14
s 1 (combination) Phase 1, Phase 2
15 Anti-HIV Agents Phase 1, Phase 2
16 Anti-Retroviral Agents Phase 1, Phase 2
17
Lactitol Phase 1, Phase 2 585-86-4 3871
18 Antibodies Phase 2
19 Antibodies, Monoclonal Phase 2
20 Immunoglobulins Phase 2
21 Anti-Inflammatory Agents Phase 2
22 Antineoplastic Agents, Hormonal Phase 2
23 glucocorticoids Phase 2
24 Hormone Antagonists Phase 2
25 Hormones Phase 2
26 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
27
Ribavirin Approved 36791-04-5 37542
28 Liver Extracts
29 interferons

Interventional clinical trials:

(show all 16)
id Name Status NCT ID Phase
1 Study of the Influence of Plasma Exchange on the Pharmacokinetics of Rituximab Completed NCT00820469 Phase 4
2 Tolerance and Efficacy of Rituximab in Sjogren's Disease Completed NCT00740948 Phase 2, Phase 3
3 Efficacy of All-Oral Anti-Viral Therapy for Symptomatic Hepatitis C Virus Infection-Related Cryoglobulinemia Recruiting NCT02825212 Phase 2, Phase 3
4 Evaluation of the Efficacy and Tolerability of Treatment With Interleukin-2 in Severe and Resistant Alopecia Areata Unknown status NCT01840046 Phase 1, Phase 2
5 Evaluation of Clinical Efficacy and Immunologic Response After IL-2 Therapy in HCV-related Vasculitis Patients Completed NCT00574652 Phase 1, Phase 2
6 Rituximab to Treat Hepatitis C-Associated Cryoglobulinemic Vasculitis Completed NCT00029107 Phase 2
7 Rituximab Plus Corticosteroids in Non-infectious Active Mixed Cryoglobulinemia Vasculitis Recruiting NCT02556866 Phase 2
8 Treatment of Hypertensive Leg Ulcer by Adipose Tissue Grafting Unknown status NCT01932021
9 Characterization of Clonal B Cell Populations in HCV Infection Completed NCT00435201
10 The RITAI Cohort: An Observational Study on Rituximab Off-label Use for Auto-immune Disorders Completed NCT00960713
11 Hepatitis C Virus and the Humoral Immune System Completed NCT00219999
12 Impact of Vasculitis on Employment and Income Completed NCT02476292
13 Direct Antiviral Agents for Hepatitis C Virus-associated Cryoglobulinaemia Vasculitis Recruiting NCT02856243
14 Long-term Outcomes of Chronic Hepatitis C Patients Post Sofosbuvir-based Treatment Recruiting NCT03042520
15 Clinical Transcriptomics in Systemic Vasculitis (CUTIS) Recruiting NCT03004326
16 Vasculitis Pregnancy Registry Recruiting NCT02593565

Search NIH Clinical Center for Cryoglobulinemia

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: cryoglobulinemia

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Genetic Tests for Cryoglobulinemia

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Anatomical Context for Cryoglobulinemia

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MalaCards organs/tissues related to Cryoglobulinemia:

39
B Cells, Skin, Liver, Kidney, Thyroid, Bone, Brain
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Publications for Cryoglobulinemia

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Articles related to Cryoglobulinemia:

(show top 50) (show all 840)
id Title Authors Year
1
Decline of cellular activation in non-B cells after rituximab treatment in hepatitis C-associated mixed cryoglobulinemia vasculitis. ( 27666584 )
2017
2
How I treat cryoglobulinemia. ( 27799164 )
2017
3
Micro and nanoparticles as possible pathogenetic co-factors in mixed cryoglobulinemia. ( 27694373 )
2017
4
MACULAR PERIVENOUS RETINAL WHITENING AND PRESUMED RETINO-CILIARY SPARING IN A RECURRENT CENTRAL RETINAL VEIN OCCLUSION ASSOCIATED WITH THE ANTIPHOSPHOLIPID SYNDROME AND CRYOGLOBULINEMIA. ( 27902540 )
2016
5
A systemic lupus erythematosus patient presenting as type B insulin resistance complicated with cryoglobulinemia. ( 27416845 )
2016
6
Incidence of thyroid disorders in mixed cryoglobulinemia: Results from a longitudinal follow-up. ( 26970485 )
2016
7
Digital ischemic necrosis with cryoglobulinemia associated with hepatitis B infection. ( 27857479 )
2016
8
Hepatic and Mesenteric Vasculitis as Presenting Manifestation of Mixed Cryoglobulinemia Related to Chronic Hepatitis C Virus Infection in a Female Patient. ( 27219310 )
2016
9
Successful ledipasvira88+a88sofosbuvir treatment of active synovitis in a rheumatoid arthritis patient with hepatitis C virus-related mixed cryoglobulinemia. ( 27848256 )
2016
10
Improved (4 Plus 2) Rituximab Protocol for Severe Cases of Mixed Cryoglobulinemia: A 6-Year Observational Study. ( 27161362 )
2016
11
Virological and Clinical Response to Interferon-Free Regimens in Patients with HCV-Related Mixed Cryoglobulinemia: Preliminary Results of a Prospective Pilot Study. ( 26853322 )
2016
12
Clinical and Morphologic Spectrum of Renal Involvement in Patients with HBV-Associated Cryoglobulinemia. ( 27062412 )
2016
13
Coronary artery bypass grafting in a patient with active idiopathic cryoglobulinemia: revisiting the issue. ( 26908383 )
2016
14
Cryoglobulinemia in a patient with chronic lymphocytic leukemia - A case report and review of literature of renal involvement in CLL. ( 27519936 )
2016
15
Poster 94 Mononeuritis Multiplex Secondary to HCV Cryoglobulinemia and Rheumatoid Vasculitis: A Case Report. ( 27672862 )
2016
16
Successful Treatment of Pyoderma Gangrenosum with Cryoglobulinemia and Hepatitis C. ( 27345376 )
2016
17
Prospective study of guideline-tailored therapy with direct-acting antivirals for hepatitis C virus-associated mixed cryoglobulinemia. ( 27483451 )
2016
18
HCV-associated cryoglobulinemia vasculitis: are its days numbered? ( 27797754 )
2016
19
Vitamin D pathway gene polymorphisms as predictors of hepatitis C virus-related mixed cryoglobulinemia. ( 27139837 )
2016
20
An Unusual Case of HCV Negative Cryoglobulinemia Presenting as Symmetrical Peripheral Gangrene. ( 27190872 )
2016
21
A Rare Cause of Unilateral Central Retinal Vein Occlusion in a Young Patient: Type III Mixed Cryoglobulinemia. ( 27418988 )
2016
22
Purtscher-like Retinopathy as a Rare Presentation of Cryoglobulinemia. ( 27162457 )
2016
23
The possible persistence of mixed cryoglobulinemia stigmata in spite of viral eradication: Insufficient or too late antiviral treatment? ( 27943334 )
2016
24
Delineation of autoantibody repertoire through differential proteogenomics in hepatitis C virus-induced cryoglobulinemia. ( 27403724 )
2016
25
Successful Treatment With Bosentan for Digital Ulcers Related to Mixed Cryoglobulinemia: A Case Report. ( 26785421 )
2016
26
Unique Renal Manifestation of Type I Cryoglobulinemia, With Massive Crystalloid Deposits in Glomerular Histiocytes, Podocytes, and Endothelial Cells. ( 26796493 )
2016
27
The correlation between antiphospholipid syndrome and cryoglobulinemia: case series of 4 patients and review of the literature. ( 27267327 )
2016
28
Refractory Mononeuritis Multiplex Due to Hepatitis C Infection and Cryoglobulinemia: Efficient Response to Rituximab. ( 27119277 )
2016
29
Virologic, Clinical, and Immune Response Outcomes of Patients With Hepatitis C Virus-Associated Cryoglobulinemia Treated With Direct-Acting Antivirals. ( 27725289 )
2016
30
Mixed cryoglobulinemia-associated SjAPgren's syndrome leading to spontaneous rupture of the kidney: a case report. ( 27042145 )
2016
31
Annular leukocytoclastic vasculitis associated with essential mixed cryoglobulinemia. ( 27098553 )
2016
32
Cold-associated painful purple digits due to type I cryoglobulinemia. ( 27681488 )
2016
33
Lymphoproliferative associated type 1 cryoglobulinemia. ( 26271811 )
2015
34
Cryoglobulinemia presenting with crystals in peripheral blood. ( 26966746 )
2015
35
Role of IL28B genotyping in patients with hepatitis C virus-associated mixed cryoglobulinemia and response to PEG-IFN and ribavirin treatment. ( 26060059 )
2015
36
Association of BAFF -871C/T Promoter Polymorphism with Hepatitis C-Related Mixed Cryoglobulinemia in a Cohort of Egyptian Patients. ( 25800158 )
2015
37
Successful treatment of HCV-associated cryoglobulinemia with ombitasvir/paritaprevir/ritonavir, dasabuvir and ribavirin: A case report. ( 26414149 )
2015
38
Glomerulonephritis and cryoglobulinemia: first manifestation of visceral leishmaniasis. ( 25600859 )
2015
39
Recurrent Mixed Cryoglobulinemia (MCS): A Case Report and Literature Review. ( 26422544 )
2015
40
Early onset mixed cryoglobulinemia in hepatitis C. ( 26275272 )
2015
41
Cryoglobulinemia in a Tunisian internal medicine department. ( 26039888 )
2015
42
Abnormal CD4a88+a88T helper (Th) 1 cells and activated memory B cells are associated with type III asymptomatic mixed cryoglobulinemia in HCV infection. ( 26129991 )
2015
43
Cryofibrinogenemia: a marker of severity of cryoglobulinemia vasculitis. ( 25827358 )
2015
44
Efficacy of low-dose rituximab for the treatment of mixed cryoglobulinemia vasculitis: Phase II clinical trial and systematic review. ( 26031898 )
2015
45
Cryoglobulinemia Vasculitis. ( 25837517 )
2015
46
1259: CRYOGLOBULINEMIA DUE TO HEPATITIS C LEADING TO LIFE-THREATENING PULMONARY ALVEOLAR HEMORRHAGE. ( 26570920 )
2015
47
Cryoglobulinemia precipitated by targeted temperature management. ( 25605473 )
2015
48
The development of mixed cryoglobulinemia in Capillaria hepatica-infected mice is associated with the capillaria antigen-induced selective proliferation of splenic B-1a cells in response to interleukin-5 stimulation. ( 25452118 )
2015
49
Treatment of Hepatitis C Virus-Associated Mixed Cryoglobulinemia with Sofosbuvir-Based Direct-Acting Antiviral Agents. ( 26474537 )
2015
50
Role of CXCL10 in cryoglobulinemia. ( 25571936 )
2015
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Variations for Cryoglobulinemia

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Expression for Cryoglobulinemia

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Search GEO for disease gene expression data for Cryoglobulinemia.
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Pathways for Cryoglobulinemia

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Pathways related to Cryoglobulinemia according to GeneCards Suite gene sharing:

(show all 11)
id Super pathways Score Top Affiliating Genes
1
Cytokine Signaling in Immune system 62
Show member pathways
 12.99 CD27 CD40LG CXCL10 IFNA2 IFNL3 TNFSF13B
2
PEDF Induced Signaling 60
Show member pathways
 12.89 CD27 CD40LG CXCL10 CXCL11 IFNA2 IFNL3
3
Allograft rejection 1 37
Show member pathways
 12.54 CD40LG CXCL11 IFNA2 TNFSF13B
4
NF-kappaB Signaling 4
12.16 CD40LG CD79A CXCL10 TNFSF13B
5
Jak-STAT signaling pathway (KEGG) 37
Show member pathways
 11.89 IFNA2 IFNL3 TSLP
6
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 61
11.68 CD5 CD79A IFNA2
7
TNF Superfamily Pathway: Human Ligand-Receptor Interactions and their Associated Functions 61
Show member pathways
 11.43 CD27 CD40LG TNFSF13B
8
IgA-Producing B Cells in the Intestine 61
11.28 CD40LG CR2 TNFSF13B
9
Peginterferon alpha-2a/Peginterferon alpha-2b Pathway (Hepatocyte), Pharmacodynamics 58
Show member pathways
 10.82 IFNA2 IFNL3
10
G-protein signaling_RhoB regulation pathway 21
10.69 CD40LG CXCL10 CXCL11 TNFSF13B
11
B Cell Development Pathways 61
10.65 CD27 CD40LG CD5 CR2
Sources

GO Terms for Cryoglobulinemia

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Cellular components related to Cryoglobulinemia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.76 CD27 CD40LG CXCL10 CXCL11 IFNA2 IFNL3
2 extracellular space GO:0005615 9.5 CD40LG CXCL10 CXCL11 IFNA2 IFNL3 TNFSF13B
3 external side of plasma membrane GO:0009897 9.02 CD27 CD40LG CD5 CD79A CXCL10

Biological processes related to Cryoglobulinemia according to GeneCards Suite gene sharing:

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 response to lipopolysaccharide GO:0032496 9.72 CD27 CXCL10 CXCL11
2 inflammatory response GO:0006954 9.72 CD27 CD40LG CXCL10 CXCL11 IFNA2
3 defense response to virus GO:0051607 9.71 CXCL10 IFNA2 IFNL3
4 defense response GO:0006952 9.69 CXCL10 CXCL11 IFNA2
5 tumor necrosis factor-mediated signaling pathway GO:0033209 9.67 CD27 CD40LG TNFSF13B
6 cell surface receptor signaling pathway GO:0007166 9.65 CD27 CD79A CD81 CXCL10 IFNA2
7 immune response GO:0006955 9.63 CD27 CD40LG CR2 CXCL10 CXCL11 TNFSF13B
8 T cell costimulation GO:0031295 9.61 CD40LG CD5 TNFSF13B
9 positive regulation of release of sequestered calcium ion into cytosol GO:0051281 9.52 CXCL10 CXCL11
10 positive regulation of cAMP-mediated signaling GO:0043950 9.48 CXCL10 CXCL11
11 T cell chemotaxis GO:0010818 9.46 CXCL10 CXCL11
12 positive regulation of cAMP metabolic process GO:0030816 9.4 CXCL10 CXCL11
13 immunoglobulin secretion GO:0048305 9.37 CD40LG TNFSF13B
14 B cell differentiation GO:0030183 9.26 CD40LG CD79A CR2 IFNA2
15 B cell proliferation GO:0042100 8.92 CD40LG CD79A CR2 IFNA2

Molecular functions related to Cryoglobulinemia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transmembrane signaling receptor activity GO:0004888 9.46 CD27 CD5 CD79A CR2
2 tumor necrosis factor receptor binding GO:0005164 9.26 CD40LG TNFSF13B
3 cytokine activity GO:0005125 9.17 CD40LG CXCL10 CXCL11 IFNA2 IFNL3 TNFSF13B
4 CXCR3 chemokine receptor binding GO:0048248 8.96 CXCL10 CXCL11
Sources

Sources for Cryoglobulinemia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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