DM1
MCID: MYT006

Myotonic Dystrophy Type 1 malady

Summaries for Myotonic Dystrophy Type 1

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30NIH Rare Diseases, 15GeneReviews, 22MalaCards
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NIH Rare Diseases: Myotonic dystrophy type 1, one of the two types of myotonic dystrophy, is an inherited type of muscular dystrophy that affects the muscles and other body systems (e.g., heart, eyes, pancreas).  Myotonic dystrophy type 1 has been categorized into three somewhat overlapping subtypes: mild, classic, and congenital (present at birth). Symptoms of the mild form are the least severe with a normal life span. The classic form is characterized by muscle weakness and wasting, prolonged muscle tensing (myotonia), cataract, and often abnormal heart function; adults may become physically disabled and may have a shortened life span. The congenital form is characterized by severe generalized weakeness at birth (hypotonia), often causing complications with breathing and early death. The condition is inherited in an autosomal dominant pattern and is caused by mutations in the DMPK gene. 30

MalaCards: Myotonic Dystrophy Type 1, also known as DM1, is related to myotonic dystrophy type 2 and congenital myotonic dystrophy. An important gene associated with Myotonic Dystrophy Type 1 is CELF1 (CUGBP, Elav-like family member 1), and among its related pathways are Platelet calcium homeostasis and Calcium Mediated T-Cell Apoptosis. The compounds sb 408124 and sb 334867 have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and smooth muscle, and related mouse phenotypes are integument and nervous system.

GeneReviews summary for myotonic-d

Aliases & Descriptions for Myotonic Dystrophy Type 1

Sources:
43UMLS, 15GeneReviews, 30NIH Rare Diseases, 44Wikipedia, 16GeneTests
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myotonic dystrophy type 1 44 15 30 16
dm1 44 30 16
steinert's disease 15 30
steinert disease 30 16
myotonic muscular dystrophy type 1 16
dystrophia myotonica type 1 30
steinert myotonic dystrophy 30
dystrophia myotonica 1 43
myotonic dystrophy 43

Related Diseases for Myotonic Dystrophy Type 1

Sources:
13GeneCards, 14GeneDecks
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Disease types for myotonic dystrophy family:

myotonic dystrophy type 1 myotonic dystrophy type 2

Diseases related to myotonic dystrophy type 1 by text searches and GeneDecks gene sharing:

(show top 50)    (show all 205)
idRelated DiseaseScoreTop Affiliating Genes
1myotonic dystrophy type 238.0CNBP, CLCN1, DMPK
2congenital myotonic dystrophy34.9DMPK, SIX5
3myotonia31.4CNBP, CLCN1, MBNL1, DM1, DMPK
4spinal-bulbar muscular atrophy29.9ATXN1, AR, DMPK
5muscular dystrophy29.5CNBP, CLCN1, KCNN1, KCNN3, CELF1, ATP2A1
6hypogonadism29.4CLCN1, AR, INSR, MBNL1, TNF, DMPK
7cholelithiasis29.3CD40LG, AR, MBNL1, ADIPOQ
8myasthenia gravis28.6CD40LG, AR, TNF, DMPK, RYR1
9sleep disorder28.0CNBP, TNF, HCRT, HCRTR1, HCRTR2, ADIPOQ
10hypertrophic cardiomyopathy28.0ATP2A2, AR, TNF, DMPK, ADIPOQ
11muscular atrophy28.0ATXN1, AR, MBNL1, DMPK, SOD1, RYR1
12huntington's disease27.8ATXN1, AR, MAPT, HCRT, SOD1
13cataract27.2CNBP, CLCN1, ATP2A3, ATP2A1, ATP2A2, MBNL1
14myotonic dystrophy27.1CNBP, MYOM1, CLCN1, KCNN1, KCNN3, MTMR1
15glucose intolerance27.1INSR, TNF, SOD1, ADIPOQ
16hypoglycemia26.9INSR, HSPA5, TNF, HCRT, SOD1
17type 1 diabetes mellitus26.3CD40LG, AR, INSR, TNF, SOD1, ADIPOQ
18dementia25.9CNBP, ATXN1, INSR, MAPT, TNF, HCRT
19blindness25.6CNBP, CDKN2A, CD40LG, AR, MAPT, TNF
20ataxia25.0KCNN1, KCNN3, ATXN1, AR, MAPT, HSPA5
21diabetes mellitus25.0ATP2A3, ATP2A2, CDKN2A, CD40LG, AR, INSR
22insulin resistance24.4CNBP, CELF1, CD40LG, AR, INSR, HSPA5
23hyperglycemia24.1CD40LG, INSR, HSPA5, TNF, SOD1, ADIPOQ
24diabetic retinopathy24.1CD40LG, AR, INSR, TNF, SOD1, ADIPOQ
25myopathy24.1CNBP, CLCN1, MTMR1, ATP2A1, CD40LG, AR
26obesity24.0ATP2A1, CDKN2A, AR, INSR, TNF, HCRT
27neuropathy23.3ATXN1, CD40LG, AR, MAPT, TNF, DMPK
28type 2 diabetes mellitus23.3ATP2A3, ATP2A2, CDKN2A, AR, INSR, TNF
29fibrosis22.7CLCN1, ATP2A3, ATP2A2, CDKN2A, CD40LG, HSPA5
30colon cancer22.4CNBP, CDKN2A, CD40LG, AR, HSPA5, TNF
31neuronitis21.9CLCN1, KCNN1, KCNN3, ATP2A3, ATXN1, CDKN2A
32thyroiditis21.4ATP2A3, ATP2A1, ATP2A2, ATXN1, CDKN2A, CD40LG
33cholesterol21.1CNBP, ATP2A2, CDKN2A, CD40LG, AR, INSR
34adenocarcinoma21.0ATP2A3, CDKN2A, CD40LG, MIR206, AR, INSR
35alzheimer's disease19.6KCNN1, ATP2A3, ATP2A1, ATP2A2, ATXN1, CDKN2A
36myotonic disease13.7CLCN1, DMPK
37thomsen disease13.5CNBP, CLCN1
38adrenal adenoma13.2HCRT, HCRTR1, HCRTR2
39normal pressure hydrocephalus13.2MAPT, HCRT
40obesity, resistance to13.1HCRTR1, HCRTR2
41congenital fiber-type disproportion13.0INSR, RYR1
42neuromuscular disease13.0AR, DMPK, RYR1
43migraine without aura13.0KCNN1, KCNN3, TNF
44muscle disorders13.0CLCN1, MAPT, RYR1
45centronuclear myopathy13.0MTMR1, INSR, RYR1
46alzheimer disease type 312.9INSR, MAPT
47x-linked spinal-bulbar muscle atrophy12.8AR, SOD1
48bipolar affective disorder12.8KCNN1, KCNN3, ATP2A2, TNF
49albinism12.7AR, HCRT, HCRTR1, HCRTR2
50metabolic syndrome x12.7INSR, TNF, ADIPOQ

Graphical network of the top 20 diseases related to myotonic dystrophy type 1:



Graphical network of diseases related to myotonic dystrophy type 1

Clinical Features for Myotonic Dystrophy Type 1

Drugs & Therapeutics for Myotonic Dystrophy Type 1

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials
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Genetic Tests for Myotonic Dystrophy Type 1

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16GeneTests
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Genetic tests related to myotonic dystrophy type 1:

id Genetic test Affiliating Genes
1 Myotonic Dystrophy Type 1
clinical/research
DM1, DMPK

Anatomical Context for Myotonic Dystrophy Type 1

Sources:
22MalaCards
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MalaCards organs/tissues related to myotonic dystrophy type 1:

22
Brain, Heart, Smooth muscle, Skeletal muscle, Pancreas

Phenotypes for genes affiliated with Myotonic Dystrophy Type 1

Sources:
25MGI
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Publications for genes affiliated with Myotonic Dystrophy Type 1

Sources:
35PubMed
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Articles related to myotonic dystrophy type 1:

(show top 50)    (show all 51)
idTitleAuthorsYearAffiliating Genes
1Decreased concentration of adiponectin together with a selective reduction of its high molecular weight oligomers is involved in met abolic complications of myotonic dystrophy type 1. (21964963)Daniele A.... Di Costanzo A.2011ADIPOQ
2Alternative splicing of myomesin 1 gene is aberrantly regulated in myotonic dystrophy type 1. (21794030)Koebis M.... Ishiura S.2011MYOM1
3Haplotype analysis of the myotonic dystrophy type 1 ( DM1) locus in the Korean population. (20421627)Kwon M.J.... Ki C.S.2010DMPK
4Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients. (20487562)Gambardella S.... Botta A.2010MIR206
5Heart-specific overexpression of CUGBP1 reproduces fu nctional and molecular abnormalities of myotonic dystrophy type 1. (20051426)Koshelev M.... Cooper T.A.2010MBNL1, CELF1
6Myotonic dystrophy type 1 and PGD: ovarian stimulatio n response and correlation analysis between ovarian reserve and genotype. (20231114)Dechanet C.... Anahory T.2010DMPK
7CUGBP1 overexpression in mouse skeletal muscle reprod uces features of myotonic dystrophy type 1. (20603324)Ward A.J.... Cooper T.A.2010CELF1
8Analysis of MTMR1 expression and correlation with mus cle pathological features in juvenile/adult onset myotonic dystrophy type 1 (DM 1) and in myotonic dystrophy type 2 (DM2). (20685272)Santoro M.... Silvestri G.2010DMPK, MTMR1
9Model for alternative splicing of insulin receptor in myotonic dystrophy type 1. (19902080)Tonevitsky E.A.... Trushkin E.V.2009INSR
10Analysis of repetitive regions in myotonic dystrophy type 1 and 2. (19360700)Carson N.L.2009CNBP
11Large CTG repeats trigger p16-dependent premature sen escence in myotonic dystrophy type 1 muscle precursor cells. (19246640)Bigot A.... Furling D.2009CDKN2A
12Autism spectrum conditions in myotonic dystrophy type 1: a study on 57 individuals with congenital and childhood forms. (18228241)Ekstrom A.B.... Wentz E.2008DMPK
13Correlation among subcortical white matter lesions, intelligence and CTG repeat expansion in classic myotonic dystrophy type 1. (18184345)Kuo H.C.... Huang C.C.2008DMPK
14Molecular and clinical characteristics of myotonic dystrophy type 1 in koreans. (19127114)Kim S.Y.... Park S.S.2008DMPK
15The hypocretin neurotransmission system in myotonic dystrophy type 1. (18195268)Ciafaloni E.... Thornton C.A.2008HCRTR2, HCRTR1, HCRT
16CTG repeat instability in a human embryonic stem cell line carrying the myotonic dystrophy type 1 mutation. (18577525)De Temmerman N.... Sermon K.D.2008DMPK
17A putative role of ribonuclear inclusions and MBNL1 in the impairment of gallbladder smooth muscle contractility with cholelithiasis in myotonic dystrophy type 1. (18653337)Cardani R.... Meola G.2008MBNL1
18Analysis of Single Nucleotide Polymorphisms (SNPs) of the small-conductance calcium activated potassium channel (SK3) gene as geneti c modifier of the cardiac phenotype in myotonic dystrophy type 1 patients. (19472917)Rinaldi F.... Novelli G.2008KCNN3, KCNN1
19Myotonic dystrophy type 1 coexisting with myasthenia gravis and thymoma. (18563724)Feyma T.... Weiss M.D.2008DMPK
20Aberrantly spliced alpha-dystrobrevin alters alpha-syntrophin binding in myotonic dystrophy type 1. (18299519)Nakamori M.... Sakoda S.2008DTNA
21The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients. (18611984)Botta A.... Novelli G.2008DMPK, CLCN1
22Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1. (17204054)Gambelli S.... Dotti M.T.2007RYR1
23Preimplantation genetic diagnosis for myotonic dystrophy type 1: detection of crossover between the gene and the linked marker APOC2. (17192963)Kakourou G.... Sengupta S.2007DMPK
24Cognitive profile in childhood myotonic dystrophy type 1: is there a global impairment? (17433680)Angeard N.... Heron D.2007DMPK
25Endoplasmic reticulum stress in myotonic dystrophy type 1 muscle. (17661063)Ikezoe K.... Kira J.2007HSPA5, RYR1, ATP2A3
26Molecular mechanisms responsible for aberrant splicing of SERCA1 in myotonic dystrophy type 1. (17728322)Hino S.... Imaizumi K.2007ATP2A1, DMPK
27MBNL1 and CUGBP1 modify expanded CUG-induced toxicity in a Drosophila model of myotonic dystrophy type 1. (16723374)de Haro M.... Botas J.2006DMPK, MBNL1, CELF1
28Clinical characteristics of myotonic dystrophy type 1 patients with small CTG expansions. (16636244)Arsenault M.E.... Mathieu J.2006DMPK
29Myotonic dystrophies type 1 and 2: a summary on curre nt aspects. (17027856)Schara U.... Schoser B.G.2006CD40LG
30Oxidative stress in myotonic dystrophy type 1. (16036357)Toscano A.... Vita G.2005SOD1
31Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca2+-ATPase in myotonic dystrophy type 1. (15972723)Kimura T.... Sakoda S.2005ATP2A1, ATP2A2, RYR1
32Decreased expression of DMPK: correlation with CTG repeat expansion and fibre type composition in myotonic dystrophy type 1. (16193250)Salvatori S.... Angelini C.2005DMPK
33Myotonic dystrophy type 1 in cataract patients: molecular diagnosis for screening and genetic counseling (15824798)Rojas M.V.... Simoes A.L.2005DMPK
34The myotonic dystrophy type 1 triplet repeat sequence induces gross deletions and inversions. (15489504)Wojciechowska M.... Wells R.D.2005DMPK
35Psychosocial impact of predictive testing for myotonic dystrophy type 1. (15039975)Prevost C.... Mathieu J.2004DMPK, DM1
36No association of the SCA1 (CAG)31 allele with Huntington's disease, myotonic dystrophy type 1 and spinocerebellar ataxia type 3. (15167689)Hellenbroich Y.... Zuhlke C.2004ATXN1
37Association of spinal and bulbar muscular atrophy with myotonic dystrophy type 1. (15116379)Jinnai K.... Takahashi K.2004DMPK
38Improved method for molecular diagnosis of myotonic dystrophy type 1 (DM1). (14730559)Erginel-Unaltuna N.... Akbas F.2004DMPK
39Leukocyte CTG repeat length correlates with severity of myotonia in myotonic dystrophy type 1. (15079005)Logigian E.L.... Moxley R.T.2004DMPK, DM1
40Heart rate variability declines with increasing age and CTG repeat length in patients with myotonic dystrophy type 1. (14510658)Hardin B.A.... Groh W.J.2003DMPK, DM1
41Transgenic mouse models for myotonic dystrophy type 1 (DM1). (14526185)Wansink D.G.... Wieringa B.2003DMWD
42Instability of a premutation allele in homozygous pat ients with myotonic dystrophy type 1. (12325072)Abbruzzese C.... Giacanelli M.2002DMPK
43Identification of transcriptional targets for Six5: implication for the pathogenesis of myotonic dystrophy type 1. (11978764)Sato S.... Kawakami K.2002DMPK, SIX5
44Tumor necrosis factor-alpha and myocardial function in patients with myotonic dystrophy type 1. (12163195)Mammarella A.... Basili S.2002TNF
45Paternal transmission of the congenital form of myotonic dystrophy type 1: a new case and review of the literature. (11807903)Zeesman S.... Whelan D.T.2002DMPK
46Increased (CTG/CAG)(n) lengths in myotonic dystrophy type 1 and Machado-Joseph disease genes in idiopathic azoospermia patients. (12042281)Pan H.... Hsiao K.M.2002AR
47Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2. (11590133)Mankodi A.... Thornton C.A.2001MBNL1
48Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1. (11590131)Sergeant N.... Delacourte A.2001MAPT
49Stapedial reflex in myotonic dystrophy type 1 and CTG repeat expansion. (12013582)Osanai R.... Hirose K.2001DMPK
50Myotonic Dystrophy Type 1 (20301344)Bird T.D.1993DMPK

Expression for genes affiliated with Myotonic Dystrophy Type 1

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1BioGPS
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Expression patterns in normal tissues for genes affiliated with Myotonic Dystrophy Type 1

Pathways for genes affiliated with Myotonic Dystrophy Type 1

Sources:
38Reactome, 36QIAGEN, 20KEGG
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Pathways related to myotonic dystrophy type 1 according to GeneDecks:

idPathwayScoreTop Affiliating Genes
1Platelet calcium homeostasis3810.0ATP2A2, ATP2A1, ATP2A3
2Calcium Mediated T-Cell Apoptosis369.6ATP2A3, ATP2A1, ATP2A2
3Beta-Adrenergic Signaling369.5RYR1, ATP2A2, ATP2A1, ATP2A3
4Type II diabetes mellitus209.3ADIPOQ, TNF, INSR
5Alzheimers disease208.8TNF, MAPT, ATP2A2, ATP2A1, ATP2A3

Compounds for genes affiliated with Myotonic Dystrophy Type 1

Sources:
42Tocris Bioscience, 32Novoseek , 9DrugBank, 18HMDB, 34PharmGKB
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Compounds related to myotonic dystrophy type 1 according to GeneDecks:

(show top 50)    (show all 58)
idCompoundScoreTop Affiliating Genes
1sb 40812442 10.4HCRTR1, HCRT
2sb 33486742 10.4HCRT, HCRTR1
3ucl 168442 10.4KCNN1, KCNN3
4scyllatoxin32 10.4KCNN3, KCNN1
5 [ala11,d-leu15]-orexin b 42 10.4HCRT, HCRTR2
6bhq42 10.3ATP2A3, ATP2A1, ATP2A2
7pom 142 10.3ATP2A2, ATP2A1, ATP2A3
8ruthenium32 10.1HSPA5, ATP2A3, RYR1
9Adenosine-5'-[Beta, Gamma-Methylene]Triphosphate9 9 11.1ATP2A1, INSR
10glucose32 10.1RYR1, HCRTR1, DMPK, ATP2A3
11cyclopiazonic acid32 42 11.1ATP2A1, RYR1, ATP2A2, ATP2A3
12ryanodine32 10.0ATP2A3, ATP2A2, DMPK, RYR1
13ascorbic acid32 18 10.5HSPA5, CD40LG, AR
14nsc3432 9.5AR, SOD1
15potassium32 9 18 9 12.5KCNN1, KCNN3, ATP2A3, HCRT, HCRTR1, RYR1
16nitric oxide32 9 18 9 12.5HCRT, CDKN2A, ATP2A3, ATP2A2
17n acetylcysteine32 9.4MAPT, CDKN2A, AR
18gliclazide32 34 9 9 12.3SOD1, ADIPOQ, INSR
19ionomycin32 9.2TNF, HSPA5, CD40LG, ATP2A3, KCNN1
20fenofibrate32 9 9 11.2CD40LG, ADIPOQ, TNF, INSR
21calcium32 9 18 9 12.1HCRTR2, ATP2A1, ATP2A3, KCNN3, KCNN1, DMPK
22norepinephrine32 9 18 9 12.1ADIPOQ, RYR1, HCRTR2, ATP2A2, HCRT, CD40LG
23gsno32 9.1SOD1, INSR, RYR1
24thapsigargin32 42 10.0HCRTR1, RYR1, HSPA5, HCRT, ATP2A2, ATP2A1
258-isoprostane32 8.9TNF, SOD1, ADIPOQ
26mg 13232 42 9.9CDKN2A, AR, MAPT
27troglitazone32 42 9 9 11.9AR, TNF, ADIPOQ, INSR
28cocaine32 9 9 10.9ADIPOQ, HCRT, AR, CD40LG
29lactacystin32 8.8AR, MAPT, INSR, TNF, HSPA5
30valine32 8.7HSPA5, AR, INSR, CDKN2A, MAPT
31creatinine32 8.6ADIPOQ, RYR1, CD40LG, CDKN2A, MAPT
32atp32 8.6ATP2A3, CNBP, ATP2A1, KCNN1, CDKN2A, HSPA5
33glutamine32 8.4INSR, RYR1, MAPT, ATXN1, KCNN3, KCNN1
34doxorubicin32 34 9 9 11.3RYR1, MAPT, HSPA5, CDKN2A, CD40LG, AR
35testosterone32 9 18 9 11.2MAPT, ATXN1, CDKN2A, CD40LG, AR, INSR
36acetylcholine32 9 18 9 11.0INSR, DMPK, HCRTR1, HCRTR2, CD40LG, RYR1
37egcg32 7.9CDKN2A, HSPA5, SOD1, TNF
38dopamine32 9 18 9 10.9HSPA5, CDKN2A, CD40LG, INSR, HCRT, HCRTR1
39aspartate32 7.9RYR1, ADIPOQ, INSR, MAPT, CDKN2A, AR
40genistein32 9 18 9 10.7INSR, MAPT, HSPA5, TNF, CD40LG, CDKN2A
41lactate32 7.7ADIPOQ, TNF, HSPA5, SOD1, CD40LG, MAPT
42dexamethasone32 42 34 9 9 11.7ADIPOQ, HCRT, TNF, INSR, AR, CD40LG
43estrogen32 7.5AR, MAPT, HSPA5, HCRT, ADIPOQ, INSR
44actinomycin d32 7.4AR, CDKN2A, ADIPOQ, TNF, HSPA5, MAPT
45glutamate32 7.4AR, RYR1, CD40LG, MAPT, ADIPOQ, INSR
46lipid32 7.1SOD1, HCRT, HSPA5, INSR, TNF, RYR1
47alanine32 6.9HCRT, ADIPOQ, RYR1, SOD1, HCRTR2, CDKN2A
48arginine32 6.6CNBP, HSPA5, ADIPOQ, AR, RYR1, CDKN2A
49serine32 6.5INSR, HSPA5, TNF, ATP2A2, RYR1, ADIPOQ
50h2o232 6.4CDKN2A, AR, ATP2A3, MAPT, HSPA5, KCNN3

GO Terms for genes affiliated with Myotonic Dystrophy Type 1

Sources:
12Gene Ontology
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Cellular components related to myotonic dystrophy type 1 according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet dense tubular network membraneGO:0310959.8ATP2A1, ATP2A2, ATP2A3
2sarcoplasmic reticulumGO:0165299.6RYR1, ATP2A2, ATP2A1, ATP2A3
3sarcoplasmic reticulum membraneGO:0330179.5ATP2A3, ATP2A1, RYR1, DMPK, ATP2A2
4integral to plasma membraneGO:0058878.1RYR1, HCRTR2, HCRTR1, TNF, INSR, CD40LG
5protein complexGO:0432347.8ATP2A2, CDKN2A, AR, DTNA, SOD1

Biological processes related to myotonic dystrophy type 1 according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ATP biosynthetic processGO:0067549.6ATP2A3, ATP2A2, ATP2A1
2regulation of immunoglobulin secretionGO:0510239.5CD40LG, TNF
3synaptic transmissionGO:0072689.1DTNA, HCRTR2, HCRTR1, KCNN1, KCNN3, HCRT

Molecular functions related to myotonic dystrophy type 1 according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1small conductance calcium-activated potassium channel activityGO:01628610.1KCNN1, KCNN3
2calcium-transporting ATPase activityGO:0053889.8ATP2A3, ATP2A1, ATP2A2
3orexin receptor activityGO:0164999.8HCRTR1, HCRTR2

Sources for Myotonic Dystrophy Type 1

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