MCID: INS003

Insensitivity to Pain malady

Summaries for Insensitivity to Pain

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22MalaCards
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MalaCards: Insensitivity to Pain is related to hereditary sensory neuropathy and anhidrosis. An important gene associated with Insensitivity to Pain is NTRK1 (neurotrophic tyrosine kinase, receptor, type 1), and among its related pathways are Apoptosis and survival Role of CDK5 in neuronal death and survival and Development MAG-dependent inhibition of neurite outgrowth. The compounds gnrh and cipa have been mentioned in the context of this disorder. Affiliated tissues include skin, and related mouse phenotypes are taste/olfaction and integument.

Aliases & Descriptions for Insensitivity to Pain

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7diseasecard
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insensitivity to pain 7

Related Diseases for Insensitivity to Pain

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

(show top 50)    (show all 116)
idRelated DiseaseScoreTop Affiliating Genes
1hereditary sensory neuropathy34.7NTRK1, NGF
2anhidrosis33.5NGFR, PKLR, NGF, MAPK10, MAPK1, NTRK1
3hereditary sensory and autonomic neuropathy type v30.7NTRK1, NGF, NGFR
4pyruvate kinase deficiency29.6NTRK1, PKLR
5autonomic neuropathy29.3NGF, NGFR, NTRK1
6arthritis24.9NTRK1, CRP, MAPK10, TRPV1, NGF, NGFR
7neuropathy24.7SCN9A, VIP, MAPK1, NGFR, NGF, CRP
8neuronitis24.3NGFR, MAPK10, MAPK1, TRPV1, TRPM8, NTRK1
9askin's tumor13.4NGF, NTRK1
10neuroaxonal dystrophy13.2NTRK1, NGF
11olfactory neuroblastoma13.1NTRK1, NGFR
12ewing's family of tumors13.0NGF, NGFR
13eating disorder12.9NTRK1, NGFR, NGF
14burning mouth syndrome12.9TRPV1, NGF, SCN9A
15adenomyosis12.9NTRK1, NGF, NGFR
16aspiration pneumonia12.9TRPM8, CRP
17ependymoma12.8NTRK1, NGF, NGFR
18dentin sensitivity12.8TRPV2, TRPM8, TRPV1
19rett syndrome12.8NTRK1, NGF, VIP
20allergic asthma12.7NGFR, NTRK1, NGF
21trigeminal neuralgia12.7SCN9A, CRP
22hirschsprung's disease12.7NTRK1, VIP, NGFR
23diabetic neuropathy12.6NGFR, NTRK1, NGF, TRPV1
24ganglioneuroma12.5VIP, NGF, NGFR, NTRK1
25differentiating neuroblastoma12.4MAPK1, NGF, NTRK1
26cystitis12.4TRPV1, NGF, CRP
27atopic dermatitis12.4VIP, NGF, NGFR
28neuroma12.3MAPK10, NGFR, NGF, TRPV1
29neuroepithelioma12.3NGF, MAPK1, MAPK10
30papillary thyroid carcinoma12.3MAPK10, NTRK1, MAPK1
31muscular dystrophy12.2PKLR, NGF, MAPK10, NGFR
32bartter disease12.2VIP, NGFR, NGF, NTRK1
33cerebral artery occlusion12.2NGF, CRP, MAPK1
34psoriatic arthritis12.1NGFR, NGF, CRP
35chagas disease12.0MAPK10, NTRK1, NGF, MAPK1
36cerebral primitive neuroectodermal tumor12.0NTRK1, VIP, MAPK10, NGF, NGFR
37neuroectodermal tumors12.0VIP, NGFR, MAPK10, NGF, NTRK1
38brain ischemia12.0VIP, MAPK10, MAPK1
39cadasil12.0CRP, NTRK1, MAPK10, VIP
40small-cell cancer of lung12.0NTRK1, VIP, MAPK1, NGFR
41prolactinoma12.0VIP, NGFR, MAPK1, NGF
42seizures11.9SCN9A, MAPK10, NGF, NGFR, VIP
43leprosy11.9MAPK1, CRP, NGF, NTRK1
44polyneuropathy11.9NGF, MAPK1, CRP
45adenoid cystic carcinoma11.8NGF, MAPK1, NTRK1
46neurodegenerative disease11.8MAPK1, NGF, NGFR, NTRK1
47down syndrome11.7NGF, MAPK10, VIP, CRP, NTRK1
48prostate colloid adenocarcinoma11.7MAPK10, MAPK1, NGFR, NTRK1, NGF
49malignant glioma11.7MAPK1, TRPV1, NGFR, NGF, NTRK1
50spinal cord injury11.6MAPK10, MAPK1, CRP, NGFR

Graphical network of the top 20 diseases related to insensitivity to pain:



Graphical network of diseases related to insensitivity to pain

Clinical Features for Insensitivity to Pain

Drugs & Therapeutics for Insensitivity to Pain

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4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
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Approved drugs:

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Genetic Tests for Insensitivity to Pain

Anatomical Context for Insensitivity to Pain

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22MalaCards
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MalaCards organs/tissues related to insensitivity to pain:

22
Skin

Phenotypes for genes affiliated with Insensitivity to Pain

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25MGI
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MGI Mouse Phenotypes related to insensitivity to pain:

25
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1taste/olfaction phenotypeMP:00053948.5TRPV1, MAPK1, NGFR
2integument phenotypeMP:00107718.2NGFR, NGF, NTRK1, TRPM8, TRPV1, SCN9A
3immune system phenotypeMP:00053877.4CRP, TRPV2, TRPV1, MAPK1, PKLR, NGFR
4nervous system phenotypeMP:00036316.9SCN9A, NGFR, NGF, NTRK1, TRPM8, TRPV1
5behavior/neurological phenotypeMP:00053866.4NGF, VIP, SCN9A, MAPK10, MAPK1, TRPV1

Publications for genes affiliated with Insensitivity to Pain

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35PubMed
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Articles related to insensitivity to pain:

(show all 39)
idTitleAuthorsYearAffiliating Genes
1Two novel mutations of SCN9A (Nav1.7) are associated with partial congenital insensitivity to pain. (20692858)Staud R.... Wallace M.R.2011SCN9A
2Congenital insensitivity to pain: novel SCN9A missens e and in-frame deletion mutations. (20635406)Cox J.J.... Parvari R.2010SCN9A
3Haploinsufficiency of the nerve growth factor beta ge ne in a 1p13 deleted female child with an insensitivity to pain. (19183217)Fitzgibbon G.J.... Gaunt L.2009NGF
4Transient receptor potential vanilloid 1, vanilloid 2 and melastatin 8 immunoreactive nerve fibers in human skin from individuals wi th and without Norrbottnian congenital insensitivity to pain. (19482060)Axelsson H.E.... Zygmunt P.M.2009TRPV1, VIP, TRPV2
5Skoura - a genetic island for congenital insensitivity to pain and anhidrosis among Moroccan Jews, as determined by a novel mutation in the NTRK1 gene. (19250380)Suriu C.... Falik-Zaccai T.C.2009NTRK1
6Congenital insensitivity to pain (18808773)Danziger N.... Willer J.C.2009SCN9A
7Clinical and genetic analysis of Korean patients with congenital insensitivity to pain with anhidrosis. (19618435)Lee S.T.... Ki C.S.2009NTRK1
8Nerve growth factor, interoception, and sympathetic neuron: lesson from congenital insensitivity to pain with anhidrosis. (19201660)Indo Y.2009NTRK1, NGF
9Two novel SCN9A mutations causing insensitivity to pain. (19304393)Nilsen K.B.... Aasly J.2009SCN9A
10Nerve growth factor R221W responsible for insensitivity to pain is defectively processed and accumulates as proNGF. (19038341)Larsson E.... Holmberg M.2009NGF
11Humoral immunodeficiency in congenital insensitivity to pain with anhidrosis. (19089473)Kilic S.S.... Timmerman V.2009NTRK1
12Abnormal neutrophil chemotactic activity in children with congenital insensitivity to pain with anhidrosis (CIPA): the role of nerve growth factor. (18955016)Beigelman A.... Levy R.2009NTRK1, MAPK1, MAPK10
13Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis. (18077166)Huehne K.... Rautenstrauss B.2008NTRK1
14Arthritis in a child secondary to congenital insensitivity to pain and self-aggression. Why and when pain is good? (16770519)Emad Y.... Salama M.2007CRP
15Decreased first phase insulin response in children with congenital insensitivity to pain with anhidrosis. (16279365)Schreiber R.... Hershkovitz E.2005NTRK1, NGF
16Congenital insensitivity to pain with Anhidrosis (NTRK1 mutation) and early onset renal disease: clinical report on three sibs with a 25-year follow-up in one of them. (16138253)Barone R.... Pavone P.2005NTRK1, NGF
17Clinical and genetic aspects of congenital insensitivity to pain with anhidrosis (15999564)Schwarzkopf R.... Gorzak Y.2005NTRK1, NGF
18Anti-apoptotic effect of nerve growth factor is lost in congenital insensitivity to pain with anhidrosis (CIPA) B lymphocytes. (15114061)Sato Y.... Eguchi M.2004NTRK1, NGF
19Familial insensitivity to pain (HSAN V) and a mutation in the NGFB gene. A neurophysiological and pathological study. (15468048)Minde J.... Solders G.2004NGF
20The anaesthetic management of patients with congenital insensitivity to pain with anhidrosis. (15078381)Rozentsveig V.... Gurman G.M.2004NTRK1
21A novel lymphocyte signaling defect: trk A mutation in the syndrome of congenital insensitivity to pain and anhidrosis (CIPA). (15163901)Melamed I.... Gelfand E.W.2004NTRK1, NGFR
22Congenital insensitivity to pain with anhidrosis in Taiwan: a morphometric and genetic study. (15159601)Guo Y.C.... Lin K.P.2004NTRK1
23An infant with primary tooth loss and palmar hyperkeratosis: a novel mutation in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis. (12949319)Bonkowsky J.L.... Swoboda K.J.2003NTRK1
24Genetics of congenital insensitivity to pain with anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV. Clinical, biological and molecular aspects of mutations in TRKA(NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor. (12102460)Indo Y.2002NTRK1
25The M581V mutation, associated with a mild form of congenital insensitivity to pain with anhidrosis, causes partial inactivation of the NTRK1 receptor. (12406349)Miranda C.... Greco A.2002NTRK1
26Novel pathogenic mechanisms of congenital insensitivity to pain with anhidrosis genetic disorder unveiled by functional analysis of neurotrophic tyrosine receptor kinase type 1/nerve growth factor receptor mutations. (11719521)Miranda C.... Greco A.2002NTRK1
27Molecular basis of congenital insensitivity to pain with anhidrosis (CIPA): mutations and polymorphisms in TRKA (NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor. (11748840)Indo Y.2001NTRK1, NGF
28Two novel mutant alleles of the gene encoding neurotrophic tyrosine kinase receptor type 1 (NTRK1) in a patient with congenital insensitivity to pain with anhidrosis: a splice junction mutation in intron 5 and cluster of four mutations in exon 15. (11139246)Bodzioch M.... Schmitz G.2001NTRK1
29Neurophysiologic studies in congenital insensitivity to pain with anhidrosis. (11744315)Shorer Z.... Levy J.2001NTRK1
30Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency. (11668614)Indo Y.... Matsuda I.2001NTRK1, PKLR
31Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor. (11159935)Mardy S.... Indo Y.2001NTRK1, NGF
32Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families. (10982191)Miura Y.... Indo Y.2000NTRK1
33Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli- Bedouins: genetic heterogeneity, novel mutations in the TRKA/NGF receptor gene, clinical findings, and results of nerve conduction studies. (10861667)Shatzky S.... Parvari R.2000NTRK1
34The Gly571Arg mutation, associated with the autonomic and sensory disorder congenital insensitivity to pain with anhidrosis, causes the inactivation of the NTRK1/nerve growth factor receptor. (10567924)Greco A.... Pierotti M.A.2000NTRK1, NGF
35Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosis. (11071380)Miura Y.... Indo Y.2000NTRK1
36A novel point mutation affecting the tyrosine kinase domain of the TRKA gene in a family with congenital insensitivity to pain with anhidrosis. (10233776)Yotsumoto S.... Kanzaki T.1999NTRK1
37A novel NTRK1 mutation associated with congenital insensitivity to pain with anhidrosis. (10090906)Greco A.... Pierotti M.A.1999NTRK1
38Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor. (10330344)Mardy S.... Indo Y.1999NTRK1
39Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis. (8696348)Indo Y.... Matsuda I.1996NTRK1, NGF

Expression for genes affiliated with Insensitivity to Pain

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1BioGPS
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Expression patterns in normal tissues for genes affiliated with Insensitivity to Pain

Pathways for genes affiliated with Insensitivity to Pain

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10EMD Millipore, 41Thomson Reuters, 36QIAGEN, 20KEGG
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Pathways related to insensitivity to pain according to GeneDecks:

(show all 24)
idPathwayScoreTop Affiliating Genes
1Apoptosis and survival Role of CDK5 in neuronal death and survival1010.2NGF, NTRK1
2Development MAG-dependent inhibition of neurite outgrowth109.8NTRK1, NGF, NGFR
3Development_MAG-dependent inhibition of neurite outgrowth419.7NTRK1, NGFR, NGF
4Sodium channels and transporters- inward current109.7SCN9A, TRPV1, TRPM8
5NGF Pathway369.3NGFR, NTRK1, MAPK1
6Intracellular Calcium Signaling369.2NTRK1, TRPV2, TRPM8, TRPV1
7TRKA Signaling369.0NTRK1, MAPK1, MAPK10
8Type II diabetes mellitus209.0PKLR, MAPK10, MAPK1
9IL-2 Gene Expression in Activated and Quiescent T-Cells368.9MAPK10, MAPK1
10Aldosterone Signaling in Epithelial Cells368.9SCN9A, MAPK1, MAPK10
11Insulin signaling pathway208.8PKLR, MAPK1, MAPK10
12MAPK signaling pathway208.6NGF, NTRK1, MAPK1, MAPK10
13PKA Signaling368.6NGFR, CRP, MAPK1, SCN9A
14p70S6K Signaling368.6MAPK10, MAPK1, NGFR, NTRK1
15Renin-Angiotensin Pathway368.6MAPK1, NGFR, NTRK1, MAPK10
16Activation of cAMP-Dependent PKA368.6NTRK1, CRP, SCN9A, MAPK1
17Breast Cancer Regulation by Stathmin1368.5NTRK1, MAPK1, MAPK10, NGFR
18cAMP Pathway368.5SCN9A, MAPK1, NTRK1, NGFR, CRP
19Apoptosis and survival_Role of CDK5 in neuronal death and survival418.4MAPK1, NGFR, NGF, NTRK1, MAPK10
20Development Neurotrophin family signaling108.4NGFR, NGF, NTRK1, MAPK10, MAPK1
21Antioxidant Action of Vitamin-C368.4NGFR, MAPK1, NTRK1, MAPK10
22Development_Neurotrophin family signaling418.4MAPK10, MAPK1, NTRK1, NGF, NGFR
23Neurotrophin signaling pathway208.3MAPK10, MAPK1, NGF, NGFR, NTRK1
24MAPK Signaling368.1NGFR, MAPK1, MAPK10, NTRK1

Compounds for genes affiliated with Insensitivity to Pain

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

(show top 50)    (show all 90)
idCompoundScoreTop Affiliating Genes
1gnrh32 10.4NTRK1
2cipa32 10.2NTRK1, NGF
3ntr 36842 10.1NGF, NGFR
4bdnf (human)42 10.0NGFR, NGF
5estradiol valerate32 9.9NGF, NGFR
6ro 08-275042 9.9NTRK1, NGFR, NGF
7ppahv42 32 10.9TRPV2, TRPV1
8olvanil32 42 10.9TRPV2
9kt 582332 9.8NTRK1, NGF, VIP
10lidocaine32 9 9 11.7NGF, TRPV1, SCN9A
11ag 87932 42 10.7MAPK10, NTRK1, NGF
12menthol32 9 18 9 12.6TRPM8, TRPV1
13carrageenan32 9.6TRPV1, SCN9A
14ly29400232 9.5MAPK1, CRP
158-(4-chlorophenylthio)-camp32 9.5MAPK10, VIP
16gw-507432 9.3MAPK10, MAPK1
17choline32 9 18 9 12.3NGFR, VIP, NTRK1, NGF
181,4-diamino-2,3-dicyano-1,4-bis(2-aminophenylthio)butadiene32 9.3MAPK10, MAPK1
19tetrodotoxin32 9.3TRPV1, SCN9A, VIP
20pyridinylimidazole32 9.3MAPK10, MAPK1
21olomoucine32 42 9 9 12.1MAPK10, MAPK1, NGF
22cyclic amp32 18 10.0NGFR, MAPK10, NGF, NTRK1, TRPV2
23morphine32 9 9 10.9NGF, VIP, MAPK10, TRPV1
24bisindolylmaleimide32 8.9MAPK10, TRPV1, MAPK1
25c2ceramide32 8.8MAPK1, NGF, NTRK1, MAPK10
26pertussis32 8.8VIP, MAPK10, MAPK1
27dopamine32 9 18 9 11.8NGFR, NTRK1, TRPV1, VIP, NGF
28phorbol32 8.7MAPK10, MAPK1, NTRK1, NGFR
29capsaicin32 8.7TRPV2, TRPM8, NTRK1, NGF, VIP, TRPV1
30matrigel32 8.6NGFR, MAPK1, NTRK1, NGF
31imatinib32 34 9 9 11.6MAPK1, VIP, NTRK1, MAPK10
32k252a32 8.5MAPK10, MAPK1, NTRK1, NGFR, NGF
33ceramide32 8.4MAPK10, MAPK1, NTRK1, NGF, NGFR
34phosphotyrosine32 8.4NGFR, NGF, MAPK1, MAPK10, NTRK1
3512-o-tetradecanoylphorbol 13-acetate32 8.4NGFR, MAPK10, NGF, NTRK1, MAPK1
36lactate32 8.4MAPK10, CRP, NTRK1, TRPV1, VIP
37wortmannin32 42 9.4MAPK1, MAPK10, NTRK1, NGFR, NGF
38phosphoinositide32 8.4MAPK10, NGFR, MAPK1, NGF, NTRK1
39glutamate32 8.3NGFR, NTRK1, VIP, MAPK1, TRPV1
40acetylcholine32 9 18 9 11.2NTRK1, NGF, NGFR, MAPK10, VIP, CRP
41nmda32 42 9.2TRPV1, MAPK1, MAPK10, NGFR, NGF
42thapsigargin32 42 9.1MAPK1, VIP, NGF, TRPV1, MAPK10
43thymidine32 18 9.1VIP, NGF, NGFR, MAPK10, MAPK1
44cycloheximide32 8.0MAPK10, MAPK1, NTRK1, CRP, NGF
45adenylate32 7.9NTRK1, MAPK10, VIP, MAPK1, NGF, TRPV1
46forskolin32 42 9 9 10.7NGFR, TRPV1, MAPK1, MAPK10, VIP, NGF
47vegf32 7.4VIP, NGFR, NGF, MAPK10, MAPK1, NTRK1
48serine32 7.1NGF, PKLR, NGFR, NTRK1, TRPV1, MAPK1
49tyrosine32 7.1TRPV1, VIP, NGF, PKLR, MAPK10, NGFR
50calcium32 9 18 9 9.3MAPK10, MAPK1, TRPV1, TRPV2, TRPM8, NTRK1

GO Terms for genes affiliated with Insensitivity to Pain

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12Gene Ontology
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Cellular components related to insensitivity to pain according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endosomeGO:0057689.5NTRK1, NGF, NGFR

Biological processes related to insensitivity to pain according to GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1thermoceptionGO:0509559.8TRPM8, TRPV1
2regulation of axonogenesisGO:0507709.7NGFR, NGF
3positive regulation of axonogenesisGO:0507729.6NGFR, NGF
4activation of MAPKK activityGO:0001869.2MAPK1, NTRK1, NGF
5Ras protein signal transductionGO:0072659.0NGF, MAPK1, NTRK1
6regulation of sequence-specific DNA binding transcription factor activityGO:0510908.7MAPK10, MAPK1
7nerve growth factor receptor signaling pathwayGO:0480118.7NGFR, NGF, NTRK1, MAPK1

Molecular functions related to insensitivity to pain according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nerve growth factor bindingGO:0484069.8NTRK1, NGFR
2calcium channel activityGO:0052629.0TRPV1, TRPV2, TRPM8

Sources for Insensitivity to Pain

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