SFN
MCID: SML026
MIFTS: 45

Small Fiber Neuropathy (SFN) malady

Genetic diseases (common), Neuronal diseases categories

Summaries for Small Fiber Neuropathy

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22Genetics Home Reference, 48OMIM, 34MalaCards
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Genetics Home Reference:22 Small fiber neuropathy is a condition characterized by severe pain attacks that typically begin in the feet or hands. As a person ages, the pain attacks can affect other regions. Some people initially experience a more generalized, whole-body pain. The attacks usually consist of pain described as stabbing or burning, or abnormal skin sensations such as tingling or itchiness. In some individuals, the pain is more severe during times of rest or at night. The signs and symptoms of small fiber neuropathy usually begin in adolescence to mid-adulthood.

MalaCards: Small Fiber Neuropathy, also known as small nerve fiber neuropathy, is related to sarcoidosis and diabetes mellitus. An important gene associated with Small Fiber Neuropathy is SCN9A (sodium channel, voltage-gated, type IX, alpha subunit), and among its related pathways are TNF Signaling and Immune response IFN alpha beta signaling pathway. The compounds ecori and zonisamide have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and dorsal root ganglion.

Description from OMIM:48 133020

Aliases & Classifications for Small Fiber Neuropathy

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Sources:
21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Neuronal diseases


Aliases & Descriptions:

small fiber neuropathy 21 23 22 48
small nerve fiber neuropathy 22
sfnp 22
sfn 22


Related Diseases for Small Fiber Neuropathy

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Small Fiber Neuropathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 80)
idRelated DiseaseScoreTop Affiliating Genes
1sarcoidosis30.8HLA-DRB1, HLA-DQB1, HLA-A
2diabetes mellitus30.4HLA-B, HLA-A, HLA-DQB1, HLA-DRB1
3celiac disease30.2HLA-DQB1, HLA-A
4neuropathy11.1
5erythromelalgia10.4
6burns10.4
7reflex sympathetic dystrophy10.3
8neuronitis10.3
9fabry disease10.3
10charcot-marie-tooth disease10.3
11complex regional pain syndrome10.3
12tooth disease10.3
13vasculitis10.3
14paine syndrome10.3
15wrinkles10.1
16lyme disease10.1
17rabies10.1
18restless legs syndrome10.1
19chagas disease10.1
20alcohol dependence10.1
21acute intermittent porphyria10.1
22diabetic neuropathy10.1
23hypothyroidism10.1
24multiple myeloma10.1
25myeloma10.1
26obesity10.1
27peripheral neuropathy10.1
28polyneuropathy10.1
29porphyria10.1
30type 2 diabetes mellitus10.1
31charcot-marie-tooth disease type 1a10.1
32autonomic dysfunction10.1
33blindness10.1
34narcolepsy10.1HLA-DRB1
35cerebritis10.0
36cerebral sinovenous thrombosis10.0
37limbal stem cell deficiency10.0
38bladder squamous cell carcinoma10.0
39breast cancer10.0
40familial breast cancer10.0
41myasthenia gravis10.0HLA-DQB1, HLA-B
42stevens-johnson syndrome10.0HLA-A, HLA-B
43ankylosing spondylitis10.0HLA-A, HLA-B
44behcet's disease10.0HLA-A, HLA-B
45vaccinia10.0HLA-A, HLA-B
46hemochromatosis10.0HLA-B, HLA-A
47intraocular melanoma10.0HLA-A, HLA-B
48uveitis10.0HLA-A, HLA-B
49multiple sclerosis 110.0HLA-DRB1, HLA-DQB1
50nasopharynx carcinoma10.0HLA-A, HLA-B

Graphical network of the top 20 diseases related to Small Fiber Neuropathy:



Diseases related to small fiber neuropathy

Symptoms for Small Fiber Neuropathy

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Sources:
48OMIM
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Clinical features from OMIM:

133020

Drugs & Therapeutics for Small Fiber Neuropathy

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Small Fiber Neuropathy

Drug clinical trials:

Search ClinicalTrials for Small Fiber Neuropathy

Search NIH Clinical Center for Small Fiber Neuropathy

Search CenterWatch for Small Fiber Neuropathy

Genetic Tests for Small Fiber Neuropathy

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Sources:
21GeneTests, 23GTR
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Genetic tests related to Small Fiber Neuropathy:

id Genetic test Affiliating Genes
1 Small Fiber Neuropathy21 23 SCN9A

Anatomical Context for Small Fiber Neuropathy

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Sources:
34MalaCards
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MalaCards organs/tissues related to Small Fiber Neuropathy:

34
Skin, Testes, Dorsal root ganglion

Animal Models for Small Fiber Neuropathy or affiliated genes

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Publications for Small Fiber Neuropathy

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Sources:
53PubMed
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Articles related to Small Fiber Neuropathy:

(show top 50)    (show all 104)
idTitleAuthorsYear
1
SjAPgren Syndrome-Associated Small Fiber Neuropathy: Characterization From a Prospective Series of 40 Cases. (23982054)
2013
2
Utility of skin biopsy in management of small fiber neuropathy. (23553795)
2013
3
Dermal innervation in healthy subjects and small fiber neuropathy patients: a stereological reappraisal. (23521644)
2013
4
Assessment of small fiber neuropathy through a quick, simple and non invasive method in a German diabetes outpatient clinic. (23073917)
2013
5
Sudoscan, a noninvasive tool for detecting diabetic small fiber neuropathy and autonomic dysfunction. (23889506)
2013
6
Usefulness of skin biopsies in the evaluation and management of patients with suspected small fiber neuropathy. (22947232)
2013
7
Successful use of flupirtine in refractory neuropathic pain due to small fiber neuropathy. (22495792)
2013
8
Corneal confocal microscopy detects small-fiber neuropathy in Charcot-Marie-Tooth disease type 1A patients. (22996176)
2012
9
Gain of function NaI11.7 mutations in idiopathic small fiber neuropathy. (21698661)
2012
10
Small fiber neuropathy: is skin biopsy the holy grail? (22570215)
2012
11
Small fiber neuropathy in Fabry disease. (22497776)
2012
12
Sarcoidosis and pain caused by small-fiber neuropathy. (23304492)
2012
13
The diagnostic value of water immersion skin wrinkling and Neuropads in small fiber neuropathy. (22475982)
2012
14
Sarcoidosis and small-fiber neuropathy. (21298560)
2011
15
Management of diabetic small-fiber neuropathy with combination L-methylfolate, methylcobalamin, and pyridoxal 5'-phosphate. (21769070)
2011
16
The small fiber neuropathy screening list: Construction and cross-validation in sarcoidosis. (20889323)
2011
17
Asymptomatic small fiber neuropathy in diabetes mellitus: investigations with intraepidermal nerve fiber density, quantitative sensory testing and laser-evoked potentials. (21472496)
2011
18
Primary Raynaud phenomenon and small-fiber neuropathy: is there a connection? A pilot neurophysiologic study. (20035332)
2011
19
Diagnosis and treatment of pain in small-fiber neuropathy. (21286866)
2011
20
Non-length dependent small fiber neuropathy. a prospective case series. (20433606)
2010
21
Elevated proinflammatory cytokine expression in affected skin in small fiber neuropathy. (20513817)
2010
22
Electrically evoked nociceptive potentials for early detection of diabetic small-fiber neuropathy. (20192984)
2010
23
Cutaneous silent period changes in Type 2 diabetes mellitus patients with small fiber neuropathy. (20138004)
2010
24
Skin biopsy for diagnosis of small fiber neuropathy: a critically appraised topic. (20065802)
2010
25
Size matters - small fiber neuropathy in the Guillain-BarrAc syndrome. (20591570)
2010
26
Reply: Is reflex sympathetic dystrophy/complex regional pain syndrome type I a small-fiber neuropathy? (20583223)
2010
27
European Federation of Neurological Societies/Peripheral Nerve Society Guideline on the use of skin biopsy in the diagnosis of small fiber neuropathy. Report of a joint task force of the European Federation of Neurological Societies and the Peripheral Nerve Society. (20626771)
2010
28
Small fiber neuropathy following vaccination for rabies, varicella or Lyme disease. (19808027)
2009
29
Small fiber neuropathy in Charcot-Marie-Tooth disease. (20120209)
2009
30
Small fiber neuropathy associated with multiple myeloma and IgA monoclonal gammopathy. (19277656)
2009
31
Etiology of small-fiber neuropathy. (19909481)
2009
32
Pitfalls of diagnostic criteria for small fiber neuropathy. (18839004)
2008
33
Restless legs syndrome in diabetic neuropathy: a frequent manifestation of small fiber neuropathy. (17374101)
2007
34
Prevalence of somatic small fiber neuropathy in obesity. (16770330)
2007
35
Small-fiber neuropathy and the 3243A>G mutation in mitochondrial DNA. (17410323)
2007
36
Erythromelalgia: an underrecognized manifestation of small-fiber neuropathy. (16901020)
2006
37
The utility of skin biopsy for prediction of progression in suspected small fiber neuropathy. (16434668)
2006
38
Small-Fiber Neuropathy Associated with Capecitabine (Xeloda)-induced Hand-foot Syndrome: A Case Report. (19078798)
2006
39
Small-fiber neuropathy: answering the burning questions. (16525192)
2006
40
Pain and small-fiber neuropathy in patients with hypothyroidism. (16966538)
2006
41
Association of HLA DQB1 0602 in sarcoidosis patients with small fiber neuropathy. (16053028)
2005
42
Small fiber neuropathy is associated with the metabolic syndrome. (18370718)
2005
43
Large and small fiber neuropathy in chronic alcohol-dependent subjects. (16279987)
2005
44
Small-fiber neuropathy/neuronopathy associated with celiac disease: skin biopsy findings. (16216941)
2005
45
Erythromelalgia: small-fiber neuropathy by any other name? (15995080)
2005
46
Association of small fiber neuropathy with cardiac sympathetic dysfunction in sarcoidosis. (15881279)
2005
47
A quantitative method for the assessment of intraepidermal nerve fibers in small-fiber neuropathy. (15789134)
2005
48
Quantitative thermal sensory testing -- value of testing for both cold and warm sensation detection in evaluation of small fiber neuropathy. (16202822)
2005
49
Small fiber neuropathy due to isolated vasculitis of the peripheral nervous system. (15055280)
2004
50
Early detection of small-fiber neuropathy in diabetes: a laser-induced pain somatosensory-evoked potentials and pupillometric study. (12453990)
2002

Variations for Small Fiber Neuropathy

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Small Fiber Neuropathy:

65
id Symbol AA change Variation ID SNP ID
1SCN9Ap.Ile859ThrVAR_019947
2SCN9Ap.Leu869HisVAR_019948
3SCN9Ap.Ser241ThrVAR_032014
4SCN9Ap.Phe1460ValVAR_032019
5SCN9Ap.Gln10ArgVAR_064595
6SCN9Ap.Phe216SerVAR_064598
7SCN9Ap.Asn395LysVAR_064600
8SCN9Ap.Glu406LysVAR_064601
9SCN9Ap.Leu869PheVAR_064609

Clinvar genetic disease variations for Small Fiber Neuropathy:

1 (show all 14)
id Gene Name Type Significance SNP ID Assembly Location
1NM_002977.3(SCN9A): c.1185C> A (p.Asn395Lys)single nucleotide variantPathogenicrs80356471GRCh37Chr 2, 167145076: 167145076
2NM_002977.3(SCN9A): c.1828C> A (p.Pro610Thr)single nucleotide variantBenign, Likely benign, Pathogenicrs41268673GRCh37Chr 2, 167141109: 167141109
3NM_002977.3(SCN9A): c.2468T> G (p.Leu823Arg)single nucleotide variantPathogenicrs80356473GRCh37Chr 2, 167134666: 167134666
4NM_002977.3(SCN9A): c.2587G> C (p.Ala863Pro)single nucleotide variantPathogenicrs80356477GRCh37Chr 2, 167133747: 167133747
5SCN9ANM_002977.3(SCN9A): c.406A> G (p.Ile136Val)single nucleotide variantPathogenicrs80356468GRCh37Chr 2, 167163081: 167163081
6NM_002977.3(SCN9A): c.2159T> A (p.Ile720Lys)single nucleotide variantLikely pathogenic, Pathogenicrs200945460GRCh37Chr 2, 167137018: 167137018
7NM_002977.3(SCN9A): c.1867G> A (p.Asp623Asn)single nucleotide variantPathogenicrs200398202GRCh37Chr 2, 167141070: 167141070
8NM_002977.3(SCN9A): c.2573T> A (p.Leu858His)single nucleotide variantPathogenicrs80356475GRCh37Chr 2, 167133761: 167133761
9NM_002977.3(SCN9A): c.2543T> C (p.Ile848Thr)single nucleotide variantPathogenicrs80356474GRCh37Chr 2, 167133791: 167133791
10SCN9ANM_002977.3(SCN9A): c.721T> A (p.Ser241Thr)single nucleotide variantPathogenicrs80356470GRCh37Chr 2, 167159780: 167159780
11NM_002977.3(SCN9A): c.4345T> G (p.Phe1449Val)single nucleotide variantPathogenicrs80356478GRCh37Chr 2, 167083097: 167083097
12NM_002977.3(SCN9A): c.2572C> T (p.Leu858Phe)single nucleotide variantPathogenicrs80356476GRCh37Chr 2, 167133762: 167133762
13SCN9ANM_002977.3(SCN9A): c.647T> C (p.Phe216Ser)single nucleotide variantPathogenicrs80356469GRCh37Chr 2, 167160789: 167160789
14SCN9ANM_002977.3(SCN9A): c.29A> G (p.Gln10Arg)single nucleotide variantPathogenicrs267607030GRCh37Chr 2, 167168238: 167168238

Expression for genes affiliated with Small Fiber Neuropathy

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

Search GEO for disease gene expression data for Small Fiber Neuropathy.

Pathways for genes affiliated with Small Fiber Neuropathy

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Sources:
51PathCards, 58SinoBiological, 55R&D Systems, 61Thomson Reuters, 56Reactome, 54QIAGEN, 31KEGG, 39NCBI BioSystems Database
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Pathways related to Small Fiber Neuropathy according to GeneCards/GeneDecks:

(show all 25)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3HLA-DQB1, HLA-A
2
Show member pathways
9.3HLA-A, HLA-B
39.3HLA-A, HLA-B
4
Show member pathways
9.3HLA-A, HLA-B
5
Show member pathways
Immune response IL 22 signaling pathway61
G protein signaling N RAS regulation pathway61
9.1HLA-DRB1, HLA-DQB1
69.1HLA-DQB1, HLA-DRB1
7
Show member pathways
9.1HLA-DQB1, HLA-DRB1
8
Show member pathways
9.1HLA-DRB1, HLA-DQB1
9
Show member pathways
Immune response T cell receptor signaling pathway61
Immune response CD28 signaling61
Immune response ICOS pathway in T helper cell61
9.1HLA-DRB1, HLA-DQB1
10
Show member pathways
9.1HLA-DRB1, HLA-DQB1
119.1HLA-DRB1, HLA-DQB1
12
Show member pathways
9.1HLA-DQB1, HLA-DRB1
139.1HLA-DRB1, HLA-DQB1
14
Show member pathways
9.1HLA-DRB1, HLA-DQB1
15
Show member pathways
TCR signaling in naive CD8+ T cells39
9.0HLA-DRB1, HLA-A
16
Show member pathways
Immune response IL 12 induced IFN gamma production61
9.0HLA-DRB1, HLA-A
178.0HLA-B, HLA-A, HLA-DQB1, HLA-DRB1
188.0HLA-B, HLA-A, HLA-DQB1, HLA-DRB1
19
Show member pathways
8.0HLA-B, HLA-A, HLA-DQB1, HLA-DRB1
20
Show member pathways
8.0HLA-B, HLA-A, HLA-DQB1, HLA-DRB1
218.0HLA-B, HLA-A, HLA-DQB1, HLA-DRB1
22
Show member pathways
8.0HLA-DRB1, HLA-DQB1, HLA-A, HLA-B
23
Show member pathways
8.0HLA-DRB1, HLA-DQB1, HLA-A, HLA-B
248.0HLA-DRB1, HLA-DQB1, HLA-A, HLA-B
25
Show member pathways
8.0HLA-DRB1, HLA-DQB1, HLA-A, HLA-B

Compounds for genes affiliated with Small Fiber Neuropathy

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Sources:
46Novoseek, 52PharmGKB, 12DrugBank, 25HMDB
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Compounds related to Small Fiber Neuropathy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ecori469.6HLA-B, HLA-DQB1
2zonisamide46 52 1211.5SCN9A, HLA-A
3allopurinol46 52 1211.5HLA-A, HLA-B
4ursodeoxycholic acid46 25 1211.4HLA-B, HLA-A
55-aza-2deoxycytidine469.3HLA-A, HLA-B
6dr-10469.3HLA-DRB1, HLA-A
7carbamazepine46 52 1211.2HLA-B, HLA-A
8arginine468.2HLA-DRB1, HLA-A, HLA-B
9oligonucleotide468.2HLA-DRB1, HLA-DQB1, HLA-A, HLA-B
10tyrosine468.0HLA-DRB1, HLA-DQB1, HLA-A, HLA-B

GO Terms for genes affiliated with Small Fiber Neuropathy

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Sources:
17Gene Ontology
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Cellular components related to Small Fiber Neuropathy according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1MHC class I protein complexGO:0426129.6HLA-A, HLA-B
2phagocytic vesicle membraneGO:0306709.4HLA-A, HLA-B
3MHC class II protein complexGO:0426139.3HLA-DRB1, HLA-DQB1
4clathrin-coated endocytic vesicle membraneGO:0306699.3HLA-DQB1, HLA-DRB1
5transport vesicle membraneGO:0306589.3HLA-DRB1, HLA-DQB1
6trans-Golgi network membraneGO:0325889.2HLA-DRB1, HLA-DQB1
7early endosome membraneGO:0319019.2HLA-A, HLA-B
8endocytic vesicle membraneGO:0306669.1HLA-DQB1, HLA-DRB1
9integral component of plasma membraneGO:0058878.5HLA-DRB1, HLA-A, HLA-B
10membraneGO:0160208.3HLA-DRB1, HLA-DQB1, HLA-B
11integral component of lumenal side of endoplasmic reticulum membraneGO:0715568.3HLA-DRB1, HLA-DQB1, HLA-A, HLA-B
12ER to Golgi transport vesicle membraneGO:0125078.2HLA-B, HLA-A, HLA-DQB1, HLA-DRB1
13Golgi membraneGO:0001398.2HLA-B, HLA-A, HLA-DQB1, HLA-DRB1

Biological processes related to Small Fiber Neuropathy according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independentGO:0024869.6HLA-A, HLA-B
2antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independentGO:0024809.6HLA-A, HLA-B
3positive regulation of T cell mediated cytotoxicityGO:0019169.5HLA-A, HLA-B
4type I interferon signaling pathwayGO:0603379.5HLA-B, HLA-A
5antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependentGO:0024799.4HLA-B, HLA-A
6antigen processing and presentation of exogenous peptide antigen via MHC class IGO:0425909.4HLA-A, HLA-B
7immunoglobulin production involved in immunoglobulin mediated immune responseGO:0023819.4HLA-DRB1, HLA-DQB1
8humoral immune response mediated by circulating immunoglobulinGO:0024559.4HLA-DQB1, HLA-DRB1
9antigen processing and presentation of peptide antigen via MHC class IGO:0024749.3HLA-A, HLA-B
10T cell costimulationGO:0312959.3HLA-DRB1, HLA-DQB1
11T cell receptor signaling pathwayGO:0508529.1HLA-DRB1, HLA-DQB1
12antigen processing and presentation of exogenous peptide antigen via MHC class IIGO:0198869.0HLA-DQB1, HLA-DRB1
13regulation of immune responseGO:0507769.0HLA-A, HLA-B
14detection of bacteriumGO:0160458.8HLA-DRB1, HLA-A, HLA-B
15interferon-gamma-mediated signaling pathwayGO:0603338.3HLA-DRB1, HLA-DQB1, HLA-A, HLA-B
16cytokine-mediated signaling pathwayGO:0192218.3HLA-B, HLA-A, HLA-DQB1, HLA-DRB1
17immune responseGO:0069558.3HLA-B, HLA-A, HLA-DQB1, HLA-DRB1

Molecular functions related to Small Fiber Neuropathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1MHC class II receptor activityGO:0323959.1HLA-DRB1, HLA-DQB1
2TAP bindingGO:0469779.0HLA-A, HLA-B
3peptide antigen bindingGO:0426058.4HLA-DRB1, HLA-A, HLA-B

Products for genes affiliated with Small Fiber Neuropathy

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Sources for Small Fiber Neuropathy

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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