DMD
MCID: DCH001
MIFTS: 79

Duchenne Muscular Dystrophy (DMD) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Muscle diseases

Aliases & Classifications for Duchenne Muscular Dystrophy

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 35LifeMap Discovery®, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Duchenne Muscular Dystrophy:

Name: Duchenne Muscular Dystrophy 52 35 11 48 24 54 70 12 13
Muscular Dystrophy, Duchenne 11 48 27 39 68
Dmd 48 24 54 70
Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type 48
Muscular Dystrophy, Classic X-Linked Recessive 24
Progressive Muscular Dystrophy of Childhood 24
 
Severe Dystrophinopathy, Duchenne Type 54
Pseudohypertrophic Muscular Dystrophy 24
Muscular Dystrophy, Duchenne Type 52
Childhood Muscular Dystrophy 24
Muscular Dystrophy Duchenne 50

Characteristics:

Orphanet epidemiological data:

54
duchenne muscular dystrophy:
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (Europe),1-9/100000 (United Kingdom),1-5/10000 (Europe),1-9/100000 (Ireland),1-9/100000 (Italy),1-9/100000 (Worldwide),1-9/100000 (Egypt),1-9/100000 (Japan),1-9/1000000 (South Africa),1-9/100000 (Denmark),1-9/100000 (Puerto rico); Age of onset: Childhood; Age of death: young Adult

HPO:

64
duchenne muscular dystrophy:
Inheritance: x-linked recessive inheritance
Onset and clinical course: childhood onset

Classifications:



External Ids:

OMIM52 310200
Disease Ontology11 DOID:11723
MeSH39 D020388
NCIt45 C75482
Orphanet54 ORPHA98896
MESH via Orphanet40 D020388
UMLS via Orphanet69 C0013264
ICD10 via Orphanet31 G71.0
MedGen37 C0013264

Summaries for Duchenne Muscular Dystrophy

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OMIM:52 Dystrophin-associated muscular dystrophies range from the severe Duchenne muscular dystrophy (DMD) to the milder Becker... (310200) more...

MalaCards based summary: Duchenne Muscular Dystrophy, also known as muscular dystrophy, duchenne, is related to dmd-related dilated cardiomyopathy and dmd-associated dilated cardiomyopathy, and has symptoms including waddling gait, waddling gait and weakness. An important gene associated with Duchenne Muscular Dystrophy is DMD (Dystrophin), and among its related pathways are Effects of Nitric Oxide and DREAM Repression and Dynorphin Expression. Affiliated tissues include skeletal muscle, heart and smooth muscle, and related mouse phenotypes are nervous system and cellular.

Disease Ontology:11 A muscular dystrophy that has material basis in X-linked disease that has material basis in mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.

NIH Rare Diseases:48 Duchenne muscular dystrophy (dmd) is a rapidly progressive form of muscular dystrophy that occurs primarily in boys. it is caused by a mutation in a gene, called the dmd gene, which encodes the muscle protein dystrophin. boys with duchenne muscular dystrophy do not make the dystrophin protein in their muscles. duchenne mucular dystrophy is inherited in an x-linked recessive fashion; however, it may also occur in people from families without a known family history of the condition. individuals who have dmd have progressive loss of muscle function and weakness, which begins in the lower limbs. in addition to the skeletal muscles used for movement, dmd may also affect the muscles of the heart.  there is no known cure for duchenne muscular dystrophy. treatment is aimed at control of symptoms to maximize the quality of life. last updated: 4/25/2015

UniProtKB/Swiss-Prot:70 Duchenne muscular dystrophy: Most common form of muscular dystrophy; a sex-linked recessive disorder. It typically presents in boys aged 3 to 7 year as proximal muscle weakness causing waddling gait, toe-walking, lordosis, frequent falls, and difficulty in standing up and climbing up stairs. The pelvic girdle is affected first, then the shoulder girdle. Progression is steady and most patients are confined to a wheelchair by age of 10 or 12. Flexion contractures and scoliosis ultimately occur. About 50% of patients have a lower IQ than their genetic expectations would suggest. There is no treatment.

Wikipedia:71 Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy. The symptom of muscle weakness... more...

Related Diseases for Duchenne Muscular Dystrophy

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Diseases related to Duchenne Muscular Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 141)
idRelated DiseaseScoreTop Affiliating Genes
1dmd-related dilated cardiomyopathy12.3
2dmd-associated dilated cardiomyopathy12.2
3muscular dystrophy, duchenne and becker type12.1
4becker muscular dystrophy11.6
5glycerol kinase deficiency11.5
6muscular dystrophy11.3
7muscular dystrophy, limb-girdle, type 2c11.0
8chromosome xp21 deletion syndrome11.0
9adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism11.0
10cardiomyopathy10.5
11dandy-walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis10.3DMD, UTRN
12scoliosis10.3
13neuromuscular disease10.3
14autosomal recessive nonsyndromic deafness 4710.3DAG1, DMD
15leukemia, megakaryoblastic, with or without down syndrome, somatic10.3DMD, GK, OTC
16cardiomyopathy, dilated, 1aa, with or without lvnc10.3DAG1, DMD
17prosthetic joint infection10.3DMD, MB, NOS1
18sudden infant death with dysgenesis of the testes syndrome10.2DAG1, DMD
19rippling muscle disease10.2CAV3, MSTN
20vulvar vestibulitis syndrome10.2MB, PIK3C2A
21thrombocytopenia, x-linked10.2DMD, GK, NOS1, UTRN
22spinal muscular atrophy10.2
23muscular atrophy10.2
24cardiomyopathy, dilated, 1x10.2DAG1, DMD, ITGA7
25parkinsonism with spasticity, x-linked10.2DMD, GK, OTC, PIK3C2A
26pancreatic agenesis 110.2DAG1, DMD
27osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures10.2CAV3, MSTN
28glycogen storage disease 0, muscle10.2CAV3, DAG1, DMD
29dilated cardiomyopathy10.2
30muscular dystrophy, limb-girdle, type 1b10.2DAG1, DMD, ITGA7, UTRN
31myopathy, distal, tateyama type10.2CAV3, MB, PIK3C2A
32vulvar eccrine adenocarcinoma10.2DMD, MB, MSTN, PIK3C2A
33sdhc-related paraganglioma and gastric stromal sarcoma10.2AQP4, DAG1, DMD, UTRN
34microscopic breast papilloma10.1DAG1, DMD, MB, PIK3C2A
35ischemia10.1
36cerebritis10.1
37myopathy10.1
38dysphagia10.1
39papillary pattern testicular yolk sac tumor10.1MB, PIK3C2A
40central corneal ulcer10.1CAV3, DAG1, DMD, UTRN
41epilepsy10.1
42retinitis10.1
43neuronitis10.1
44myotonic dystrophy10.1
45adult t-cell leukemia10.1CKM, MB, PIK3C2A
46paraurethral gland cancer10.0AQP4, MB
47osteoporosis10.0
48aland island eye disease10.0
49macroglossia10.0
50cerebral palsy10.0

Graphical network of the top 20 diseases related to Duchenne Muscular Dystrophy:



Diseases related to duchenne muscular dystrophy

Symptoms & Phenotypes for Duchenne Muscular Dystrophy

About this section

Symptoms by clinical synopsis from OMIM:

310200

Clinical features from OMIM:

310200

Human phenotypes related to Duchenne Muscular Dystrophy:

 64 (show all 16)
id Description HPO Frequency HPO Source Accession
1 muscular hypotonia64 HP:0001252
2 intellectual disability, mild64 HP:0001256
3 hyporeflexia64 HP:0001265
4 flexion contracture64 HP:0001371
5 congestive heart failure64 HP:0001635
6 dilated cardiomyopathy64 HP:0001644
7 waddling gait64 HP:0002515
8 scoliosis64 HP:0002650
9 hypoventilation64 HP:0002791
10 respiratory failure64 HP:0002878
11 elevated serum creatine phosphokinase64 HP:0003236
12 hyperlordosis64 HP:0003307
13 gowers sign64 HP:0003391
14 muscular dystrophy64 HP:0003560
15 calf muscle pseudohypertrophy64 HP:0003707
16 arrhythmia64 HP:0011675

UMLS symptoms related to Duchenne Muscular Dystrophy:


waddling gait, weakness

MGI Mouse Phenotypes related to Duchenne Muscular Dystrophy according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036319.2AQP4, DAG1, DMD, DTNA, ITGA7, NOS1
2MP:00053849.2CAV3, CKM, DAG1, DMD, ITGA7, LTBP4
3MP:00053679.2AQP4, DMD, MSTN, NOS1, OTC, PIK3C2A
4MP:00053699.2CAV3, CKM, DAG1, DMD, DTNA, ITGA7
5MP:00053869.1AQP4, DAG1, DMD, DTNA, ITGA7, LTBP4
6MP:00107689.0AQP4, DAG1, DMD, DTNA, ITGA7, LTBP4
7MP:00053788.9AQP4, CKM, DAG1, DMD, DTNA, ITGA7
8MP:00053858.9AQP4, CAV3, CKM, DAG1, DMD, DTNA
9MP:00053768.8AQP4, CAV3, CKM, DAG1, DMD, ITGA7

Drugs & Therapeutics for Duchenne Muscular Dystrophy

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Drugs for Duchenne Muscular Dystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50)    (show all 202)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Carvedilolapproved, investigationalPhase 416872956-09-32585
Synonyms:
(+-)-1-(Carbazol-4-yloxy)-3-((2-(O-methoxyphenoxy)ethyl)amino)-2-propanol
(+-)-1-(Carbazol-4-yloxy)-3-((2-(o-methoxyphenoxy)ethyl)amino)-2-propanol
(+-)-1-Carbazol-4-yloxy)-3-((2-(o-methoxyphenoxy)ethyl)amino)-2-propanol
(+/-)-1-(Carbazol-4-yloxy)-3-[[2-(o-methoxyphenoxy)ethyl]amino]-2-propanol
1-(9H-Carbazol-4-yloxy)-3-[[2-(2-methoxyphenoxy)ethyl]amino]-2-propanol
1-(9H-carbazol-4-yloxy)-3-[(2-{[2-(methyloxy)phenyl]oxy}ethyl)amino]propan-2-ol
1-(9H-carbazol-4-yloxy)-3-[2-(2-methoxyphenoxy)ethylamino]propan-2-ol
1-(9H-carbazol-4-yloxy)-3-{[2-(2-methoxyphenoxy)ethyl]amino}propan-2-ol
107741-96-8
72956-09-3
AB1004830
AC-1641
AC1L1E0B
Artist
Artist (TN)
Atlana Pharma brand of carvedilol
BM 14190
BM-14-190
BM-14.190
BM-14190
BRD-A10977446-001-04-8
BRD-A10977446-045-01-1
Bio-0014
C043211
C06875
C2260
C24H26N2O4
CHEBI:3441
CHEMBL723
CID2585
CPD000449280
Carvedilol
Carvedilol (JAN/USAN/INN)
Carvedilol [USAN:INN:BAN:JAN]
Carvedilolum
Carvedilolum [Latin]
Coreg
Coreg (TN)
Coreg CR
Coropres
Coropress
D00255
DB01136
DQ 2466
DQ-2466
Dibloc
 
Dilatrend
EG-P042
Eucardic
GlaxoSmithKline brand of carvedilol
HMS2051N03
HMS2089B09
HMS2093E12
HSDB 7044
I06-0064
I06-1477
KBio2_002145
KBio2_004713
KBio2_007281
KBio3_002323
KBioGR_001252
KBioSS_002145
Kredex
L001243
LS-121875
Lakeside brand of carvedilol
MLS000758299
MLS000759508
MLS001424092
MolPort-003-666-814
NCGC00167832-01
NCGC00167832-02
NCGC00167832-03
Querto
Roche brand of carvedilol
SAM001246736
SAM001247021
SK&F-105517
SKF 105517
SMR000449280
SPBio_001885
STK621453
Spectrum2_001673
Spectrum3_001182
Spectrum4_000636
Spectrum5_001436
Spectrum_001665
TL8005080
UNII-0K47UL67F2
carvedilol
carvedilol, (+-)-isomer
carvedilol, (R)-isomer
carvedilol, (S)-isomer
carvedilol, 14C-labeled
2
RamiprilapprovedPhase 415287333-19-55362129
Synonyms:
(2 S ,3 aS ,6 aS )-1[( S )-N-[( S )-1-Carboxy-3-phenylpropyl] alanyl] octahydrocyclopenta [ b ]pyrrole-2-carboxylic acid, 1-ethyl ester
(2S,3aS,6aS)-1-((S)-2-((S)-1-ethoxy-1-oxo-4-phenylbutan-2-ylamino)propanoyl) octahydrocyclopenta[b]pyrrole-2-carboxylic acid
(2S,3aS,6aS)-1-((S)-N-((S)-1-Carboxy-3-phenylpropyl)alanyl)octahydrocyclopenta(b)pyrrole-2-carboxylic acid, 1-ethyl ester
(2S,3aS,6aS)-1-((S)-N-((S)-1-Ethoxycarbonyl-3-phenylpropyl)alanyl)octahydrocyclopenta(b)pyrrol-2-carbonsaeure
(2S,3aS,6aS)-1-[(2S)-2-[[(2S)-1-ethoxy-1-oxo-4-phenylbutan-2-yl]amino]propanoyl]-3,3a,4,5,6,6a-hexahydro-2H-cyclopenta[b]pyrrole-2-carboxylic acid
(2S,3aS,6aS)-1-[(2S)-2-{[(1S)-1-ethoxycarbonyl-3-phenylpropyl]amino}propanoyl]octahydrocyclopenta[b]pyrrole-2-carboxylic acid
(2S,3aS,6aS)-1-[(2S)-2-{[(2S)-1-ethoxy-1-oxo-4-phenylbutan-2-yl]amino}propanoyl]octahydrocyclopenta[b]pyrrole-2-carboxylic acid (non-preferred name)
(2S-(1(R*(R*)),2alpha,3abeta,6abeta))-1-(2-((1-(Ethoxycarbonyl)-3-phenylpropyl)amino)-1-oxopropyl)octahydrocyclopenta(b)pyrrole-2-carboxylic acid.
(2S-(1(R*(r*)),2alpha,3abeta,6abeta))-1-(2-((1-(ethoxycarbonyl)-3-phenylpropyl)amino)-1-oxopropyl)octahydrocyclopenta(b)pyrrole-2-carboxylic acid
(2s,3as,6as)-1((s)-n-((s)-1-carboxy-3-phenylpropyl)alanyl)octahydrocyclopenta(b)pyrrole-2-carboxylic
(2s,3as,6as)-1-((s)-2-((s)-1-ethoxy-1-oxo-4-phenylbutan-2-ylamino)propanoyl)-octahydrocyclopenta[b]p
(2s,3as,6as)-1-[(s)-2-((s)-1-ethoxycarbonyl-3-phenyl-propylamino)-propionyl]-octahydro-cyclopenta[b]
126613-39-6
87333-19-5
AC-1347
AC1NSFPR
Acovil
Almirall Brand of Ramipril
Altace
Altace (TN)
Altace (tn)
Astra Brand of Ramipril
AstraZeneca Brand of Ramipril
Aventis Brand of Ramipril
Aventis Pharma Brand of Ramipril
BIDD:GT0803
BSPBio_003347
Bio-0651
C23H32N2O5
CHEBI:289203
CHEBI:8774
CHEMBL1168
CID5362129
CPD000466386
Carasel
Cardace
D00421
D017257
DB00178
Delix
HMS2051E04
HMS2090L11
HMS2093M10
HOE 498
HOE498
Hoe-498
Hoechst Brand of Ramipril
 
Hypren
Hytren
KBio2_002504
KBio2_005072
KBio2_007640
KBio3_002849
KBioGR_001858
KBioSS_002512
LS-58199
Lostapres
MLS000759523
MLS001216547
MLS001423965
MolPort-001-736-571
Monarch Brand of Ramipril
N-(1S-carboethoxy-3-phenylpropyl)-S-alanyl-cis,endo-2-azabicyclo[3.3.0]octane-3S-carboxylic Acid
NCGC00178127-01
Naprix
Pramace
Pramace (discontinued)
Promed Brand of Ramipril
Quark
R0404_SIGMA
Ramace
Ramipril
Ramipril (USP/INN)
Ramipril [USAN:INN:BAN]
Ramiprilum
Ramiprilum [Latin]
Ramipro, Tritace, Altace, Prilace, Ramipril
S1793_Selleck
SAM001246757
SAM002699899
SMR000466386
SPECTRUM1505214
STK801937
Spectrum3_001794
Spectrum4_001269
Spectrum5_001721
Spectrum_001958
Triatec
Tritace
UNII-L35JN3I7SJ
Unipril
Vesdil
Zabien
[2S,3aS,6aS]-1-[(2S)-2-[[(1S)-1-(Ethoxycarbonyl)-3-phenylpropyl]amino]-1-oxopropyl]octahydrocyclopenta[b]pyrrole-2-carboxylic acid
[2s,3as,6as]-1-[(2s)-2-[[(1s)-1-(ethoxycarbonyl)-3-phenylpropyl]amino]-1-oxopropyl]octahydrocyclopen
ramipril
3
Tadalafilapproved, investigationalPhase 4, Phase 3, Phase 1, Early Phase 1155171596-29-5110635
Synonyms:
(6R,12AR)-2,3,6,7,12,12a-hexahydro-2-methyl-6-(3,4-(methylenedioxy)phenyl) pyrazino(1',2':1,6)pyrido(3,4-b)indole-1,4-dione
(6R,12aR)-2,3,6,7,12,12a-Hexahydro-2-methyl-6-(3,4-(methylenedioxy)phenyl) pyrazino(1',2':1,6)pyrido(3,4-b)indole-1,4-dione
(6R,12aR)-2,3,6,7,12,12a-Hexahydro-2-methyl-6-(3,4-methylenedioxyphenyl)pyrazino(1',2':1,6)pyrido(3,4-b)indole-1,4-dione
(6R-trans)-6-(1,3-Benzodioxol-5-yl)-2,3,6,7,12,12a-hexahydro-2-methyl-pyrazino(1',2':1,6)pyrido(3,4-b)indole-1,4-dione
171596-29-5
1xoz
6-BENZO[1,3]dioxol-5-yl-2-methyl-2,3,6,7,12,12a-hexahydro-pyrazino[1',2':1,6]pyrido[3,4-b]indole-1,4-dione
AC1L380B
ADCIRCA
Acdirca
Adcirca
C429886
CHEBI:41488
CHEMBL779
CID110635
CPD000466321
Cialis
Cialis (TN)
Cialis, GF 196960, IC 351, ICOS 351, Tadalafil
D02008
DB00820
FT-0080116
GF 196960
GF-196960
 
HMS2051N17
HSDB 7303
IC 351
IC-351
ICOS 351
Ic351
KS-1117
LS-186558
LS-187015
LS-187770
Lilly brand of tadalafil
MLS000759426
MLS001165782
MLS001195644
MLS001424132
MolPort-002-885-864
S1512_Selleck
SAM001246586
SMR000466321
Tadalafil
Tadalafil (JAN/USAN/INN)
Tadalafil [USAN]
Tadanafil
UNII-742SXX0ICT
ZINC03993855
4Angiotensin-Converting Enzyme InhibitorsPhase 4, Phase 3, Phase 2724
5HIV Protease InhibitorsPhase 4, Phase 3, Phase 25470
6Adrenergic AgentsPhase 4, Phase 35352
7Adrenergic alpha-AntagonistsPhase 4739
8
protease inhibitorsPhase 4, Phase 3, Phase 25471
Synonyms:
 
protease inhibitors
9Vasodilator AgentsPhase 4, Phase 3, Phase 1, Phase 2, Early Phase 13543
10Adrenergic AntagonistsPhase 41573
11Adrenergic beta-AntagonistsPhase 41193
12Antihypertensive AgentsPhase 4, Phase 3, Phase 24207
13Neurotransmitter AgentsPhase 4, Phase 3, Phase 218340
14Adrenergic alpha-1 Receptor AntagonistsPhase 4480
15Anti-Bacterial AgentsPhase 4, Phase 2, Phase 111226
16Phosphodiesterase 5 InhibitorsPhase 4, Phase 3, Phase 2, Phase 1, Early Phase 1589
17Phosphodiesterase InhibitorsPhase 4, Phase 3, Phase 1, Phase 2, Early Phase 11289
18Antibiotics, AntitubercularPhase 47180
19
Prednisoneapproved, vet_approvedPhase 3, Phase 2139853-03-25865
Synonyms:
(1S,2R,10S,11S,14R,15S)-14-hydroxy-14-(2-hydroxyacetyl)-2,15-dimethyltetracyclo[8.7.0.0^{2,7}.0^{11,15}]heptadeca-3,6-diene-5,17-dione
(8S,9S,10R,13S,14S,17R)-17-hydroxy-17-(2-hydroxyacetyl)-10,13-dimethyl-6,7,8,9,12,14,15,16-octahydrocyclopenta[a]phenanthrene-3,11-dione
(8xi,9xi,14xi)-17,21-dihydroxypregna-1,4-diene-3,11,20-trione
.delta. E
.delta.(sup1)-Cortisone
.delta.-Cortelan
.delta.-Cortisone
.delta.-Cortone
.delta.-E
.delta.1-Cortisone
.delta.1-Dehydrocortisone
.delta.sone
1,2-Dehydrocortisone
1,4-Pregnadiene-17-alpha,21-diol-3,11,20-trione
1,4-Pregnadiene-17.alpha.,21-diol-3,11,20-trione
1,4-Pregnadiene-17alpha,21-diol-3,11,20-trione
1-Cortisone
1-Dehydrocortisone
17,21-Dihydroxypregna-1,4-diene-3,11,20-trione
17alpha,21-Dihydroxy-1,4-pregnadiene-3,11,20-trione
53-03-2
68-59-7
81552_FLUKA
AC-11112
AC1L1LB2
AC1Q29EZ
ACon0_000082
ACon1_000297
AI3-52939
Adasone
Ancortone
Apo-Prednisone
Apo-prednisone
BPBio1_000323
BRD-K85883481-001-04-2
BSPBio_000293
Betapar
Bicortone
Bio-0649
C07370
C21H26O5
CCRIS 2646
CHEBI:8382
CHEMBL635
CID5865
CPD001227202
Cartancyl
Colisone
Cortan
Cortancyl
Cortidelt
Cotone
DB00635
Dacorten
Dacortin
Decortancyl
Decortin
Decortisyl
Dehydrocortisone
Dekortin
Delcortin
Dellacort
Dellacort A
Delta Cortelan
Delta E
Delta E.
Delta-Cortelan
Delta-Dome
Delta-cortelan
Delta-cortisone
Delta-cortone
Delta-dome
Deltacortene
Deltacortisone
Deltacortone
Deltasone
Deltasone, Liquid Pred, Orasone, Adasone, Deltacortisone,Prednisone
Deltison
Deltisona
Deltisone
Deltra
Di-Adreson
Diadreson
EINECS 200-160-3
Econosone
Encorton
Encortone
Enkortolon
Enkorton
Fernisone
Fiasone
HMS1568O15
HMS2090J13
HSDB 3168
Hostacortin
In-Sone
Incocortyl
 
Juvason
Kortancyl
LMST02030180
LS-1325
Liquid Pred
Lisacort
Lodotra
MEGxm0_000443
MLS001061265
MLS001304073
MLS001335907
MLS001335908
MLS002154191
MLS002207083
Me-Korti
Metacortandracin
Meticorten
Meticorten (Veterinary)
Metrevet (Veterinary)
MolPort-001-740-041
NCGC00090766-01
NCGC00090766-02
NCGC00090766-03
NCI-C04897
NCI60_000008
NSC 10023
NSC10023
Nisona
Nizon
Novoprednisone
Nurison
Orasone
Origen Prednisone
P1276
P6254_SIGMA
PRD
Panafcort
Panasol
Paracort
Parmenison
Pehacort
Precort
Predeltin
Prednicen-M
Prednicorm
Prednicort
Prednicot
Prednidib
Prednilonga
Prednison
Prednisona
Prednisona [INN-Spanish]
Prednisone
Prednisone Intensol
Prednisone [INN:BAN]
Prednisonum
Prednisonum [INN-Latin]
Prednitone
Prednizon
Prednovister
Presone
Prestwick0_000077
Prestwick1_000077
Prestwick2_000077
Prestwick3_000077
Prestwick_405
Pronison
Pronisone
Rectodelt
Retrocortine
S1622_Selleck
SAM002264641
SK-Prednisone
SMR000718760
SMR001227202
SPBio_002214
Servisone
Sone
Sterapred
Supercortil
U 6020
UNII-VB0R961HZT
Ultracorten
Ultracortene
WLN: L E5 B666 CV OV AHTTT&J A1 E1 FV1Q FQ
Winpred
Wojtab
ZINC03875357
Zenadrid
Zenadrid (veterinary)
Zenadrid [veterinary]
delta cortelan
delta(sup 1)-Cortisone
delta(sup 1)-Dehydrocortisone
delta-1-Cortisone
delta-1-Dehydrocortisone
delta-Cortisone
delta-Cortone
20
MetforminapprovedPhase 3, Phase 2, Phase 11803657-24-914219, 4091
Synonyms:
1,1-Dimethyl biguanide
1,1-Dimethylbiguanide
3-(diaminomethylidene)-1,1-dimethylguanidine
657-24-9
AC1L1HE4
AKOS000121065
Apo-Metformin
BIDD:GT0697
BPBio1_000009
BRD-K79602928-003-04-1
BSPBio_000007
BSPBio_002314
C07151
C4H11N5
CAS-1115-70-4
CCRIS 9321
CHEBI:6801
CHEMBL1431
CID4091
D04966
DB00331
DMGG
Diabetosan
Diabex
Dimethylbiguanid
Dimethylbiguanide
Dimethylbiguanidine
Dimethyldiguanide
Dimethylguanylguanidine
EINECS 211-517-8
Fluamine
Flumamine
Fortamet
Gen-Metformin
Glifage
Gliguanid
Glucophage
Glucophage XR
Glumetza
Glycon
HMS2089D19
HSCI1_000295
Haurymelin
Haurymellin
Islotin
KBio2_002310
KBio2_004878
KBio2_007446
KBio3_002790
KBioGR_002310
 
KBioSS_002312
LA-6023
LS-43899
Melbin
Metformin
Metformin (USAN/INN)
Metformin HCL
Metformin [USAN:INN:BAN]
Metformina
Metformina [DCIT]
Metformina [Spanish]
Metformine
Metformine [INN-French]
Metformine pamoate
Metforminum
Metforminum [INN-Latin]
Metiguanide
MolPort-002-929-560
MolPort-004-288-389
MolPort-005-767-418
Mylan-Metformin
N,N-Dimethylbiguanide
N,N-Dimethyldiguanide
N,N-Dimethylimidodicarbonimidic diamide
N,N-dimethylimidodicarbonimidic diamide
N1,N1-Dimethylbiguanide
NCGC00016564-01
NCGC00016564-02
NCGC00016564-03
NNDG
Novo-Metformin
Nu-Metformin
PMS-Metformin
Prestwick0_000004
Prestwick1_000004
Prestwick2_000004
Prestwick3_000004
Ran-Metformin
Ratio-Metformin
Riomet
S2483_Selleck
SPBio_001928
STK011633
Sandoz Metformin
Siofor
T5895664
Teva-Metformin
UNII-9100L32L2N
ZINC12859773
cMAP_000016
metformin
metformin hydrochloride
21Idebenoneapproved, investigationalPhase 3, Phase 22158186-27-9
22
Enalaprilapproved, vet_approvedPhase 312475847-73-35362032, 40466924
Synonyms:
(2S)-1-[(2S)-2-[[(2S)-1-ethoxy-1-oxo-4-phenylbutan-2-yl]amino]propanoyl]pyrrolidine-2-carboxylic acid
(S)-1-(N-(1-(Ethoxycarbonyl)-3-phenylpropyl)-L-alanyl)-L-proline
(S)-1-{(S)-2-[1-((S)-ethoxycarbonyl)-3-phenyl-propylamino]-propionyl}-pyrrolidine-2-carboxylic acid
1-(N-((S)-1-Carboxy-3-phenylpropyl)-L-alanyl)-L-proline 1'-ethyl ester
75847-73-3
AC1NTUS5
Analapril
BIDD:GT0751
BPBio1_000340
BSPBio_000308
BSPBio_003035
Bonuten
C06977
CAS-76095-16-4
CHEBI:116847
CHEBI:4784
CHEMBL578
CID5388962
D07892
DivK1c_000408
Enalapril
Enalapril (INN)
Enalapril (TN)
Enalapril Bp
Enalapril Maleate
Enalapril Richet
Enalaprila
Enalaprila [INN-Spanish]
Enalaprilat
Enalaprilum
 
Enalaprilum [INN-Latin]
Gadopril
HMS2090E08
IDI1_000408
KBio1_000408
KBio2_001787
KBio2_004355
KBio2_006923
KBio3_002535
KBioGR_000355
KBioSS_001787
Kinfil
LS-190651
MolPort-002-885-877
N-[(2S)-1-ethoxy-1-oxo-4-phenylbutan-2-yl]-L-alanyl-L-proline
N-{(1S)-1-[(ethyloxy)carbonyl]-3-phenylpropyl}-L-alanyl-L-proline
NCGC00016932-01
NCGC00021569-04
NCGC00021569-05
NCGC00021569-06
NINDS_000408
Prestwick3_000314
SPBio_001349
Spectrum2_001455
Spectrum3_001478
Spectrum4_000008
Spectrum5_001107
Spectrum_001307
Vaseretic
Vasotec
Vasotec IV
enalapril
23DeflazacortapprovedPhase 3, Phase 11314484-47-0
24
EnalaprilatapprovedPhase 312476420-72-96917719
Synonyms:
(2S)-1-[(2S)-2-[[(2S)-1-hydroxy-1-oxo-4-phenylbutan-2-yl]amino]propanoyl]pyrrolidine-2-carboxylic acid
(2S)-1-[(2S)-2-[[(2S)-1-hydroxy-1-oxo-4-phenylbutan-2-yl]amino]propanoyl]pyrrolidine-2-carboxylic acid dihydrate
1-((2S)-2-{[(1S)-1-CARBOXY-3-PHENYLPROPYL]AMINO}PROPANOYL)-L-PROLINE
1-(N-((S)-1-Carboxy-3-phenylpropyl)-L-alanyl)-L-proline dihydrate
76420-72-9
AC1NUWEA
AC1OCEK7
BIDD:GT0752
C11720
C18H24N2O5.2H2O
CHEBI:116759
CHEBI:42302
CHEBI:4786
CHEBI:59877
CHEMBL1200697
CHEMBL577
CID5462501
CID6917719
CPD000466359
D03769
EAL
ENALAPRILAT INHIBITOR
Enalapril acid
Enalapril diacid
Enalaprilat
Enalaprilat (USP)
 
Enalaprilat anhydrous
Enalaprilate
Enalaprilatum
Enalaprilic acid
Enalprilate hydrate
HMS2051H16
HMS2089P04
LS-118903
LS-187219
MK-422
MLS000759476
MLS001424138
MolPort-005-943-792
N-[(1S)-1-Carboxy-3-phenylpropyl]-L-alanyl-L-proline
N-[(1S)-1-carboxy-3-phenylpropyl]-L-alanyl-L-proline
N-[(1S)-1-carboxy-3-phenylpropyl]-L-alanyl-L-proline--water (1/2)
N-[(1S)-1-carboxy-3-phenylpropyl]-L-alanyl-L-proline—water (1/2)
NCGC00164593-01
S1657_Selleck
SAM001246684
SBB065733
SMR000466359
Vasotec I.V.
enalaprilat dihydrate
enalaprilat hydrate
enalprilat hydrate
enalprilate hydrate
25
EplerenoneapprovedPhase 396107724-20-9150310, 443872
Synonyms:
107724-20-9
7alpha-methoxycarbonyl-3-oxo-9,11alpha-epoxy-17alpha-pregn-4-ene-21,17-carbolactone
AC-4213
AC1L9FDC
C12512
CGP-30083
CHEBI:31547
CHEBI:726453
CHEMBL1095097
CID443872
D01115
Eplerenone
 
Eplerenone (JAN/USAN/INN)
Epoxymexrenone
Inspra
Inspra (TN)
Inspra, Epoxymexrenone, CGP30083, SC-66110,Eplerenone
MolPort-003-986-216
NCGC00159559-01
NCGC00159559-02
S1707_Selleck
SC-66110
Selara
TL8000270
ZINC03985982
26
BenzocaineapprovedPhase 320161994-09-7, 94-09-72337
Synonyms:
(p-(Ethoxycarbonyl)phenylamine
06952_FLUKA
112909_ALDRICH
112909_SIAL
1333-08-0
23239-88-5
23239-88-5 (hydrochloride)
4 Aminobenzoic Acid Ethyl Ester
4-(Ethoxycarbonyl)aniline
4-(Ethoxycarbonyl)phenylamine
4-14-00-01129 (Beilstein Handbook Reference)
4-Aminobenzoate
4-Aminobenzoic acid
4-Aminobenzoic acid ethyl ester
4-Aminobenzoic acid, ethyl ester
4-Carbethoxyaniline
4-amino-benzoic acid ethyl ester
4-aminobenzoic acid ethyl ester
71123-91-6
94-09-7
94-09-7 (Parent)
A0271
AB00051923
AC1L1DGC
AC1Q341A
AC1Q64JE
AE-562/40377256
AI3-02081
AKOS000119763
AR-1H9065
Acetate, Benzocaine
Aethoform
Aethylium paraminobenzoicum
Amben ethyl ester
Americaine
Anaesthan-syngala
Anaesthesin
Anaesthesinum
Anaesthin
Anestezin
Anestezin [Russian]
Anesthesin
Anesthesine
Anesthone
BB_SC-0019
BPBio1_001017
BRD-K75466013-001-05-2
BRN 0638434
BSPBio_000923
BSPBio_001908
Baby Anbesol
Bensokain
Benzoak
Benzocaina
Benzocaina [INN-Spanish]
Benzocaine
Benzocaine (USP/INN)
Benzocaine Acetate
Benzocaine Formate
Benzocaine Hydrobromide
Benzocaine Hydrochloride
Benzocaine Methanesulfonate
Benzocaine [INN:BAN]
Benzocainum
Benzocainum [INN-Latin]
Benzoic acid, 4-amino-, ethyl ester
Benzoic acid, 4-amino-, ethyl ester, hydrochloride
Benzoic acid, amino-, ethyl ester
Benzoic acid, p-amino-, ethyl ester
C07527
CAS-94-09-7
CHEBI:116735
CHEMBL278172
CID2337
Caswell No. 430A
Chloraseptic
D001566
D00552
DB01086
Dermoplast
Diet Ayds
DivK1c_000932
E1501_SIGMA
EINECS 202-303-5
EPA Pesticide Chemical Code 097001
ETHYL-P-AMINOBENZOATE
Ethoform
Ethoforme
Ethyl 4-aminobenzoate
Ethyl 4-aminobenzoate hydrochloride
Ethyl 4-aminobenzoic acid
Ethyl Aminobenzoate
Ethyl PABA
 
Ethyl aminobenzoate
Ethyl aminobenzoate (JP15)
Ethyl aminobenzoate (VAN)
Ethyl aminobenzoic acid
Ethyl p-Aminobenzoate
Ethyl p-Aminophenylcarboxylate
Ethyl p-aminobenzenecarboxylate
Ethyl p-aminobenzoate
Ethyl p-aminobenzoic acid
Ethyl p-aminophenylcarboxylate
Ethylester kyseliny p-aminobenzoove
Ethylester kyseliny p-aminobenzoove [Czech]
Ethylis aminobenzoas
Formate, Benzocaine
HMS1570O05
HMS1920G09
HMS2091M11
HMS502O14
HSDB 7225
Hurricaine
Hydrobromide, Benzocaine
Hydrochloride, Benzocaine
I05-0204
IDI1_000932
Identhesin
KBio1_000932
KBio2_000474
KBio2_003042
KBio2_005610
KBio3_001408
KBioGR_000658
KBioSS_000474
Keloform
LS-35847
MLS001331704
MLS002153970
Methanesulfonate, Benzocaine
MolPort-000-871-526
NCGC00016352-01
NCGC00094598-01
NCGC00094598-02
NINDS_000932
NSC 122792
NSC 41531
NSC41531
NSC4688
Norcain
Norcaine
Norcainum
Oprea1_750694
Oprea1_827402
Ora-jel
Orabase-B
Orthesin
Otocain
Outgro
Parathesin
Parathesin (TN)
Parathesine
Prestwick0_000712
Prestwick1_000712
Prestwick2_000712
Prestwick3_000712
Prestwick_991
SMR000059025
SPBio_000134
SPBio_002844
SPECTRUM1500139
STK043620
Slim Mint Gum
Solarcaine
Solu H
Spectrum2_000117
Spectrum3_000314
Spectrum4_000249
Spectrum5_000860
Spectrum_000074
Topcaine
UNII-U3RSY48JW5
WLN: ZR DVO2
ZINC12358719
benzocaine
ethylaminobenzoate-4
h-4-abz-oet
nchembio.182-comp4
p-(Ethoxycarbonyl)aniline
p-Aminobenzoate
p-Aminobenzoic acid
p-Aminobenzoic acid ethyl ester
p-Aminobenzoic acid, ethyl ester
p-Aminobenzoic ethyl ester
p-Carbethoxyaniline
p-Ethoxycarboxylic Aniline
p-Ethoxycarboxylic aniline
27
SpironolactoneapprovedPhase 32321952-01-7, 52-01-75833
Synonyms:
4-18-00-01601 (Beilstein Handbook Reference)
4-Pregnen-21-oic acid-17alpha-ol-3-one-7alpha-thiol gamma-lactone 7-acetate
496916-40-6
52-01-7
7-alpha-Acetylthio-3-oxo-17-alpha-pregn-4-ene-21,17-beta-carbolactone
7alpha-(acetylsulfanyl)-3-oxo-17alpha-pregn-4-ene-21,17-carbolactone
AB00513806
AC-4214
AC1L1L8Q
Abbolactone
Acelat
Aldace
Aldactazide
Aldactide
Aldactone
Aldactone (TN)
Aldactone A
Alderon
Aldopur
Almatol
Alphapharm Brand of Spironolactone
Alpharma Brand of Spironolactone
Alter Brand of Spironolactone
Altex
Aquareduct
Ashbourne Brand of Spironolactone
Azupharma Brand of Spironolactone
BIDD:PXR0071
BPBio1_000194
BRD-K90027355-001-03-4
BRN 0057767
BSPBio_000176
C07310
C24H32O4S
CHEBI:428201
CHEBI:45692
CHEBI:9241
CHEMBL1393
CID5833
CPD000471892
Cardel Brand of Spironolactone
D00443
D013148
DB00421
Deverol
Dexo Brand of Spironolactone
Diatensec
Dira
Duraspiron
EINECS 200-133-6
Espironolactona
Espironolactona Alter
Espironolactona Mundogen
Espironolactona [INN-Spanish]
Euteberol
Flumach
Frumikal
Generosan Brand of Spironolactone
HMS1568I18
HMS2090N21
HSDB 3184
Hormosan Brand of Spironolactone
I06-1970
Jenapharm Brand of Spironolactone
Jenaspiron
LS-118614
LT00772287
Lacalmin
Lacdene
Laractone
MLS001074672
MLS001333253
MLS001333254
MLS002153245
MLS002207058
Mayoly-Spindler Brand of Spironolactone
Melarcon
Merck dura Brand of Spironolactone
Mundogen Brand of Spironolactone
NCGC00164397-01
 
NCGC00164397-02
NSC 150399
NSC150399
Nefurofan
Novo Spiroton
Novo-Spiroton
NovoSpiroton
Novopharm Brand of Spironolactone
Osyrol
Pfizer Brand of Spironolactone
Pharmafrid Brand of Spironolactone
Practon
Prestwick0_000128
Prestwick1_000128
Prestwick2_000128
Prestwick3_000128
Roche Brand of Spironolactone
S0260
S3378_SIGMA
SAM002264648
SC 9420
SC-9420
SC9420
SMR000471892
SNL
SPBio_002115
Sagisal
Searle Brand of Spironolactone
Sincomen
Spiractin
Spiresis
Spiretic
Spiridon
Spiro L.U.T.
Spiro(17H-cyclopenta(a)phenauthrene-17,2'-(3'H)-furan)
Spiro-Tablinen
Spiro[17H-cyclopenta[a]phenauthrene-17,2'-(3'H)-furan]
Spirobeta
Spiroctan
Spiroctanie
Spiroderm
Spirogamma
Spirolactone
Spirolakton
Spirolang
Spirolone
Spirone
Spirono Isis
Spirono-Isis
Spironocompren
Spironolactone
Spironolactone (JP15/USP/INN)
Spironolactone A
Spironolactone [BAN:INN:JAN]
Spironolactone [INN:BAN:JAN]
Spironolactonum
Spironolactonum [INN-Latin]
Spironolattone
Spironolattone [DCIT]
Spironone
Spirospare
Sprioderm
Supra-puren
Suracton
UNII-27O7W4T232
Uractone
Urusonin
Veroshpiron
Verospiron
Verospirone
Verospirone Opianin
WLN: L E5 B666 FX OV MUTJ A1 E1 KSV1 F-& CT5VOXTJ
Worwag Brand of Spironolactone
Xenalon
ZINC03861599
betapharm Brand of Spironolactone
ct Arzneimittel Brand of Spironolactone
ct-Arzneimittel Brand of Spironolactone
spiro von ct
spironolactone
spironolattone
von ct, spiro
28
Lisinoprilapproved, investigationalPhase 2, Phase 311783915-83-75362119
Synonyms:
(2S)-1-[(2S)-6-amino-2-[[(2S)-1-hydroxy-1-oxo-4-phenylbutan-2-yl]amino]hexanoyl]pyrrolidine-2-carboxylic acid
(S)-1-(N(2)-(1-Carboxy-3-phenylpropyl)-L-lysyl)-L-proline
(S)-1-(N(2)-(1-carboxy-3-phenylpropyl)-L-lysyl)-L-proline
(S)-1-(N(sup 2)-(1-Carboxy-3-phenylpropyl)-L-lysyl)-L-proline
(S)-1-(N2-(1-Carboxy-3-phenylpropyl)-L-lysyl)-L-proline
1-(N2-(1-Carboxy-3-phenylpropyl)-L-lysyl)-L-proline
1-[Nalpha-[(S)-1-Carboxy-3-phenylpropyl]-L-lysyl]-L-proline
76547-98-3
77726-95-5
83915-83-7 (Parent)
AC1NSFPF
Acerbon
Acercomp
Alapril
BB_NC-1454
BIDD:GT0755
BPBio1_000290
BRD-K67966701-335-03-5
BRN 4276619
BSPBio_000262
C21H31N3O5
CCRIS 3568
CHEBI:43755
CHEMBL1237
CID5362119
Carace
Cipral
Cipril
Coric
D08131
DB00722
DivK1c_001037
Doneka
EINECS 278-488-1
HMS1921B14
HMS2090O14
HMS2092L21
HMS503O15
I06-1895
ICI-209K
IDI1_001037
Inhibril
Inopril
KBio1_001037
KBio2_000977
KBio2_003545
KBio2_006113
KBio3_002002
KBioGR_001599
KBioSS_000977
L0220
LPR
LS-118899
Linopril
Linvas
Lipril
Lisinal
 
Lisinopril
Lisinopril (INN)
Lisinopril (anhydrous)
Lisinopril Dihydrate
Lisinopril anhydrous
Lisinoprilum
Lisinoprilum [Latin]
Lisipril
Lisoril
Lispril
Longes
Loril
Lysinopril
MK 521
MK 522
MK-521
MLS001306436
MLS001306481
MolPort-002-507-428
N(2)-[(1S)-1-carboxy-3-phenylpropyl]-L-lysyl-L-proline
N-(1(S)-Carboxy-3-phenylpropyl)-L-lysyl-L-proline
N2-((S)-1-Carboxy-3-phenylpropyl)-L-lysyl-L-proline
N2-[(1S)-1-carboxy-3-phenylpropyl]-L-lysyl-L-proline
NCGC00179623-01
NINDS_001037
Noperten
Novatec
Presiten
Prestwick0_000301
Prestwick1_000301
Prestwick2_000301
Prestwick3_000301
Prinil
Prinivil
Prinzide
Renacor
SMR000544473
SPBio_001351
SPBio_002481
SPECTRUM1501217
Sinopril
Sinopryl
Spectrum2_001456
Spectrum3_000941
Spectrum4_001040
Spectrum5_000995
Spectrum_000497
TL8005499
Tensopril
Tensyn
Tersif
Vivatec
Zestoretic
Zestril
Zestril (TN)
[N2-[(S)-1-CARBOXY-3-PHENYLPROPYL]-L-LYSYL-L-PROLINE
[N2-[(S)-1-CARBOXY-3-phenylpropyl]-L-lysyl-L-proline
lisinopril
29
Zoledronic acidapprovedPhase 3294118072-93-868740
Synonyms:
(1-Hydroxy-2-imidazol-1-ylethylidene)diphosphonic acid
(1-hydroxy-2-(1H-imidazol-1-yl)ethylidene)bisphosphonic acid
(1-hydroxy-2-imidazol-1-yl-1-phosphonoethyl)phosphonic acid
(1-hydroxy-2-imidazol-1-yl-phosphonoethyl)phosphonic acid monohydrate
(1-hydroxy-2-imidazol-1-ylethylidene)diphosphonic acid
118072-93-8
2-(imidazol-1-yl)-1-hydroxyethane-1,1-diphosphonic acid
2-(imidazol-1-yl)-1-hydroxyethylidene-1,1-bisphosphonic acid
AC-1092
AC1L2ACJ
AC1Q6RN3
AKOS005145739
Aclasta
Anhydrous Zoledronic Acid
BIDD:GT0292
BIDD:PXR0134
Bio-0112
Bisphosphonate 3
C088658
CGP 42'446
CGP 42446
CGP 42446A
CGP-42'446
CGP-42446
CHEBI:46557
CHEMBL924
CID68740
D08689
DB00399
 
FT-0082657
HMS2089O09
I06-0710
KS-1132
LS-181815
MolPort-002-885-874
MolPort-003-850-890
NCGC00159521-02
NCGC00159521-03
NSC721517
Novartis brand of zoledronic acid
Reclast
Reclast (TN)
S00092
S1314_Selleck
UNII-70HZ18PH24
ZOL
Zol
Zoledronate
Zoledronic Acid Anhydrous
Zoledronic Acid, Anhydrous
Zoledronic acid
Zoledronic acid (INN)
Zoledronic acid [USAN:INN]
Zometa
Zometa (Novartis)
Zometa (TN)
Zometa Concentrate
Zometa, Zomera, Aclasta and Reclast, Zoledronic Acid
[1-hydroxy-2-(1H-imidazol-1-yl)ethane-1,1-diyl]bis(phosphonic acid)
30
Nebivololapproved, investigationalPhase 382152520-56-4, 99200-09-6, 118457-14-071301
Synonyms:
1,1'-Bis(6-fluoro-3,4-dihydro-2H-1-benzopyran-2-yl)-2,2'-iminodiethanol
1,1'-[Bis(6-fluoro-3,4-dihydro-2H-1-benzopyran-2-yl)]-2,2'-iminodiethanol
1-(6-fluoro-3,4-dihydro-2H-chromen-2-yl)-2-[[2-(6-fluoro-3,4-dihydro-2H-chromen-2-yl)-2-hydroxyethyl]amino]ethanol
104365-59-5
118457-14-0
2,2'-iminobis[1-(6-fluoro-3,4-dihydro-2H-chromen-2-yl)ethanol]
99200-09-6
AC-1611
AC1L2FX8
AC1Q4OMF
Bystolic
C22H25F2NO4
CHEMBL434394
CID71301
D05127
DB04861
I06-0378
L001284
LS-178404
Lobivon
MolPort-003-849-343
Narbivolol
Nebicard-5
 
Nebilet
Nebilong
Nebipill
Nebivolol
Nebivolol (USAN/INN)
Nebivolol [USAN:INN:BAN]
Nebivololum
Nebivololum [Latin]
Nebivololum [latin]
Nodon
Nubeta
PDSP1_000244
PDSP2_000243
PI-21858
R 67555
R-67555
R65,824
UNII-030Y90569U
alpha,alpha'-(Iminobis(methylene))bis(6-fluoro-3,4-dihydro-2H-1-benzopyran-2-methanol)
alpha,alpha'-(Iminodimethylene)bis(6-fluoro-2-chromanmethanol)
alpha,alpha'-(iminobis(methylene))bis(6-fluoro-3,4-dihydro)-2H-1-benzopyran-2-methanol
alpha,alpha'-(iminobismethylene)bis-(6-fluoro-3,4-dihydro-2H-1-benzopyran-2-methanol)
alpha,alpha'-(iminodimethylene)bis-(6-fluoro-2-chromanmethanol)
nebivololum [latin]
31
Creatineapproved, nutraceuticalPhase 2, Phase 313057-00-1586
Synonyms:
((amino(Imino)methyl)(methyl)amino)acetic acid
((amino(imino)methyl)(methyl)amino)acetate
((amino(imino)methyl)(methyl)amino)acetic acid
(N-methylcarbamimidamido)acetic acid
(alpha-Methylguanido)acetate
(alpha-Methylguanido)acetic acid
(α-methylguanido)acetic acid
Cosmocair C 100
Creatin
Creatine
Creatine hydrate
Kreatin
 
Krebiozon
Methylglycocyamine
Methylguanidoacetate
Methylguanidoacetic acid
N-(Aminoiminomethyl)-N-Methyl-Glycine
N-(aminoiminomethyl)-N-methylglycine
N-Amidinosarcosine
N-Carbamimidoyl-N-methylglycine
N-Methyl-N-guanylglycine
N-[(e)-AMINO(imino)methyl]-N-methylglycine
Phosphagen
[[Amino(imino)methyl](methyl)amino]acetate
[[Amino(imino)methyl](methyl)amino]acetic acid
alpha-Methylguanidino acetic acid
32tannic acidapproved, NutraceuticalPhase 32016
33diureticsPhase 3, Phase 11418
34Natriuretic AgentsPhase 3, Phase 11697
35Anti-Inflammatory AgentsPhase 3, Phase 2, Phase 110729
36Bone Density Conservation AgentsPhase 3, Phase 13376
37Diuretics, Potassium SparingPhase 31917
38VitaminsPhase 2, Phase 35282
39Mineralocorticoid Receptor AntagonistsPhase 3346
40MineralocorticoidsPhase 3367
41Immunosuppressive AgentsPhase 3, Phase 113086
42Hypoglycemic AgentsPhase 3, Phase 2, Phase 15896
43HormonesPhase 3, Phase 2, Phase 114415
44Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 3, Phase 2, Phase 113168
45Hormone AntagonistsPhase 3, Phase 2, Phase 113180
46glucocorticoidsPhase 3, Phase 2, Phase 15103
47Antineoplastic Agents, HormonalPhase 3, Phase 2, Phase 15592
48Adrenergic AgonistsPhase 33027
49AntioxidantsPhase 3, Phase 2, Phase 13050
50Pharmaceutical SolutionsPhase 2, Phase 3, Phase 18192

Interventional clinical trials:

(show top 50)    (show all 208)
idNameStatusNCT IDPhase
1The Preventive Efficacy of Carvedilol on Cardiac Dysfunction in Duchenne Muscular DystrophyUnknown statusNCT00606775Phase 4
2Ramipril Versus Carvedilol in Duchenne and Becker PatientsUnknown statusNCT00819845Phase 4
3Tadalafil in Becker Muscular DystrophyCompletedNCT01070511Phase 4
4PDE5 Inhibition to Alleviate Functional Muscle Ischemia in Becker Muscular DystrophyCompletedNCT02207283Phase 4
5Stacking Exercises Aid the Decline in FVC and Sick TimeActive, not recruitingNCT01999075Phase 4
6Effects of Sodium Nitrate on Blood Flow in Becker Muscular DystrophyUnknown statusNCT02147639Phase 2, Phase 3
7High-dose Prednisone in Duchenne Muscular DystrophyCompletedNCT00110669Phase 3
8L-citrulline and Metformin in Duchenne's Muscular DystrophyCompletedNCT01995032Phase 3
9Phase 2b Study of PTC124 in Duchenne/Becker Muscular Dystrophy (DMD/BMD)CompletedNCT00592553Phase 2, Phase 3
10Phase III Randomized, Double-Blind Study of Prednisone for Duchenne Muscular DystrophyCompletedNCT00004646Phase 3
11A Clinical Study to Assess the Efficacy and Safety of GSK2402968 in Subjects With Duchenne Muscular DystrophyCompletedNCT01254019Phase 3
12Creatine and Glutamine in Steroid-Naive Duchenne Muscular DystrophyCompletedNCT00016653Phase 2, Phase 3
13Phase III Study of Idebenone in Duchenne Muscular Dystrophy (DMD)CompletedNCT01027884Phase 3
14A Multicenter Randomized Placebo-Controlled Double-Blind Study to Assess Efficacy and Safety of Glutamine and Creatine Monohydrate in Duchenne Muscular Dystrophy (DMD)CompletedNCT00018109Phase 3
15Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy - ACE Inhibitor Therapy TrialCompletedNCT02432885Phase 3
16Phase 3 Study of Ataluren in Patients With Nonsense Mutation Duchenne Muscular DystrophyCompletedNCT01826487Phase 3
17Clinical Trial to Evaluate the Efficacy, Safety, and Tolerability of BMS-986089 in Ambulatory Boys With Duchenne Muscular DystrophyRecruitingNCT03039686Phase 2, Phase 3
18A Phase III Double-blind Study With Idebenone in Patients With Duchenne Muscular Dystrophy (DMD) Taking Glucocorticoid SteroidsRecruitingNCT02814019Phase 3
19Study of SRP-4045 and SRP-4053 in DMD PatientsRecruitingNCT02500381Phase 3
201 Year Open-label Extension to CZOL446H2337 Safety and Efficacy Trial of Zoledronic Acid Twice Yearly in Osteoporotic Children Treated With GlucocorticoidsRecruitingNCT01197300Phase 3
21A Research Study of Zoledronic Acid in Children and Adolescents With OsteoporosisRecruitingNCT00799266Phase 3
22Finding the Optimum Regimen for Duchenne Muscular DystrophyActive, not recruitingNCT01603407Phase 3
23Therapeutic Potential for Aldosterone Inhibition in Duchenne Muscular DystrophyActive, not recruitingNCT02354352Phase 3
24Sunphenon Epigallocatechin-Gallate (EGCg) in Duchenne Muscular DystrophyActive, not recruitingNCT01183767Phase 2, Phase 3
25Nebivolol for the Prevention of Left Ventricular Systolic Dysfunction in Patients With Duchenne Muscular DystrophyActive, not recruitingNCT01648634Phase 3
26Confirmatory Study of Eteplirsen in DMD PatientsActive, not recruitingNCT02255552Phase 3
27Study of Ataluren for Previously Treated Patients With nmDBMD in Europe, Israel, Australia, and CanadaActive, not recruitingNCT01557400Phase 3
28Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation DystrophinopathyActive, not recruitingNCT02090959Phase 3
29Study of Ataluren for Previously Treated Patients With nmDBMD in the USEnrolling by invitationNCT01247207Phase 3
30Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular DystrophiesEnrolling by invitationNCT01126697Phase 2, Phase 3
31Clinical Study to Evaluate the Efficacy and Safety of Givinostat in Ambulant Patients With Duchenne Muscular DystrophyNot yet recruitingNCT02851797Phase 3
32Long-Term Outcomes of Ataluren in Duchenne Muscular DystrophyNot yet recruitingNCT03179631Phase 3
33A Study of Tadalafil for Duchenne Muscular DystrophyTerminatedNCT01865084Phase 3
34Phase 2b Extension Study of Ataluren (PTC124) in Duchenne/Becker Muscular Dystrophy (DMD/BMD)TerminatedNCT00847379Phase 2, Phase 3
35Extension Study of Drisapersen in DMD SubjectsTerminatedNCT02636686Phase 3
36Open Label Study of GSK2402968 in Subjects With Duchenne Muscular DystrophyTerminatedNCT01480245Phase 3
37CoQ10 and Prednisone in Non-Ambulatory DMDTerminatedNCT00308113Phase 3
38A Study of the Safety, Tolerability & Efficacy of Long-term Administration of Drisapersen in US & Canadian SubjectsTerminatedNCT01803412Phase 3
39Evaluation of a Mechanical Device During Acute Respiratory Failure in Patients With Neuromuscular DisordersTerminatedNCT00839033Phase 3
40Drisapersen Duchenne Muscular Dystrophy (DMD) Treatment ProtocolWithdrawnNCT01890798Phase 3
41Efficacy of Umbilical Cord Mesenchymal Stem Cells in Duchenne Muscular DystrophyUnknown statusNCT02285673Phase 1, Phase 2
42Safety and Efficacy of Umbilical Cord Mesenchymal Stem Cell Therapy for Patients With Duchenne Muscular DystrophyUnknown statusNCT01610440Phase 1, Phase 2
43Safety and Efficacy Study of IGF-1 in Duchenne Muscular DystrophyUnknown statusNCT01207908Phase 1, Phase 2
44Study Safety and Efficacy of BMMNC for the Patient With Duchenne Muscular DystrophyUnknown statusNCT01834040Phase 1, Phase 2
45Study Safety and Efficacy of Bone Marrow Derived Autologous Cells for the Treatment of Muscular Dystrophy.Unknown statusNCT01834066Phase 1, Phase 2
46Safety and Efficacy Study of PTC124 in Duchenne Muscular DystrophyCompletedNCT00264888Phase 2
47Safety and Efficacy Study of Antisense Oligonucleotides in Duchenne Muscular DystrophyCompletedNCT00159250Phase 1, Phase 2
48Efficacy and Tolerability of Idebenone in Boys With Cardiac Dysfunction Associated With Duchenne Muscular DystrophyCompletedNCT00654784Phase 2
49Efficacy Study of AVI-4658 to Induce Dystrophin Expression in Selected Duchenne Muscular Dystrophy PatientsCompletedNCT01396239Phase 2
50CRD007 for the Treatment of Duchenne Muscular Dystrophy, Becker Muscular Dystrophy and Symptomatic CarriersCompletedNCT01540604Phase 2

Search NIH Clinical Center for Duchenne Muscular Dystrophy

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Duchenne Muscular Dystrophy cell therapies at LifeMap Discovery.

Genetic Tests for Duchenne Muscular Dystrophy

About this section

Genetic tests related to Duchenne Muscular Dystrophy:

id Genetic test Affiliating Genes
1 Duchenne Muscular Dystrophy27 24

Anatomical Context for Duchenne Muscular Dystrophy

About this section

MalaCards organs/tissues related to Duchenne Muscular Dystrophy:

36
Skeletal muscle, Heart, Smooth muscle, Bone, Testes, Eye, Brain

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Duchenne Muscular Dystrophy:
id TissueAnatomical CompartmentCell Relevance
1 AdiposeSubcutaneous White AdiposeMesenchymal Stem Cells Potential therapeutic candidate
2 Umbilical CordWharton's JellyMesenchymal Stem Cells Potential therapeutic candidate
3 AdiposeSubcutaneous White AdiposeStromal Cells Potential therapeutic candidate

Publications for Duchenne Muscular Dystrophy

About this section

Articles related to Duchenne Muscular Dystrophy:

(show top 50)    (show all 921)
idTitleAuthorsYear
1
The Direct Cost of Managing a Rare Disease: Assessing Medical and Pharmacy Costs Associated with Duchenne Muscular Dystrophy in the United States. (28530521)
2017
2
Potential Therapeutic Action of Adiponectin in Duchenne Muscular Dystrophy. (28463682)
2017
3
A comparison of swallowing dysfunction in Becker muscular dystrophy and Duchenne muscular dystrophy. (28288529)
2017
4
Towards a short questionnaire for stepwise assessment of upper limb function, pain and stiffness in Duchenne muscular dystrophy. (28084836)
2017
5
First Drug Approved for Duchenne Muscular Dystrophy. (28030401)
2017
6
Digital PCR quantification of miR-30c and miR-181a as serum biomarkers for Duchenne muscular dystrophy. (27979502)
2017
7
Does Body Mass Index Predict Premature Cardiomyopathy Onset for Duchenne Muscular Dystrophy? (28084148)
2017
8
Serum Creatinine Distinguishes Duchenne Muscular Dystrophy from Becker Muscular Dystrophy in Patients Aged a8o3 Years: A Retrospective Study. (28533764)
2017
9
The golden retriever model of Duchenne muscular dystrophy. (28526070)
2017
10
Creation of a Novel Humanized Dystrophic Mouse Model of Duchenne Muscular Dystrophy and Application of a CRISPR/Cas9 Gene Editing Therapy. (28505980)
2017
11
Electrical impedance myography for assessment of Duchenne muscular dystrophy. (28076894)
2017
12
Relationship Between Fragmented QRS Complexes and Cardiac Status in Duchenne Muscular Dystrophy: Multimodal Validation Using Echocardiography, Magnetic Resonance Imaging, and Holter Monitoring. (28456833)
2017
13
Effectiveness of Coenzyme Q10 on echocardiographic parameters of patients with Duchenne muscular dystrophy. (28461862)
2017
14
Androgen Receptor Agonists Increase Lean Mass, Improve Cardiopulmonary Functions, and Extend Survival in Preclinical Models of Duchenne Muscular Dystrophy. (28453658)
2017
15
Exon skipping: a first in class strategy for Duchenne muscular dystrophy. (27936976)
2017
16
Two Cases of Duchenne Muscular Dystrophy That Showed Different Reactions to Nerve Stimulation During Peripheral Nerve Block: A Case Report. (28459722)
2017
17
Pharmacological Inhibition of PKCI, Counteracts Muscle Disease in a Mouse Model of Duchenne Muscular Dystrophy. (28089792)
2017
18
Pharmacological advances for treatment in Duchenne muscular dystrophy. (28486179)
2017
19
A Novel NF-I_B Inhibitor, Edasalonexent (CAT-1004), in Development as a Disease-Modifying Treatment for Patients With Duchenne Muscular Dystrophy: Phase 1 Safety, Pharmacokinetics, and Pharmacodynamics in Adult Subjects. (28074489)
2017
20
Correlation of Serum Creatine Kinase Level With Pulmonary Function in Duchenne Muscular Dystrophy. (28503465)
2017
21
Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort. (28079318)
2017
22
Genomic integration of the full-length dystrophin coding sequence in Duchenne muscular dystrophy induced pluripotent stem cells. (28139886)
2017
23
Newborn screening for Duchenne muscular dystrophy in China: Follow-up diagnosis and subsequent treatment. (28466241)
2017
24
Oxidative stress in Duchenne muscular dystrophy: focus on the NRF2 redox pathway. (28472288)
2017
25
Growing patients with Duchenne muscular dystrophy: longitudinal changes in their dentofacial morphology and orofacial functional capacities. (28520860)
2017
26
Comparison of serum rAAV serotype-specific antibodies in patients with Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Inclusion Body Myositis or GNE myopathy. (28042944)
2017
27
Evaluation of the behavioral characteristics of the mdx mouse model of duchenne muscular dystrophy through operant conditioning procedures. (28532665)
2017
28
Repression of phosphatidylinositol transfer protein I+ ameliorates the pathology of Duchenne muscular dystrophy. (28533404)
2017
29
Induction of Pluripotent Stem Cells from a Manifesting Carrier of Duchenne Muscular Dystrophy and Characterization of Their X-Inactivation Status. (28491099)
2017
30
Mechanical insufflation-exsufflation for an individual with Duchenne muscular dystrophy and a lower respiratory infection. (27999675)
2017
31
Variations in Duchenne muscular dystrophy course in a multi-ethnic UK population: potential influence of socio-economic factors. (28509411)
2017
32
Digital Droplet PCR for the Absolute Quantification of Exon Skipping Induced by Antisense Oligonucleotides in (Pre-)Clinical Development for Duchenne Muscular Dystrophy. (27612288)
2016
33
Long-Term Efficacy, Safety, and Pharmacokinetics of Drisapersen in Duchenne Muscular Dystrophy: Results from an Open-Label Extension Study. (27588424)
2016
34
Comparison of left ventricular function assessment between echocardiography and MRI in Duchenne muscular dystrophy. (27173979)
2016
35
Impact of corticotherapy, nutrition, and sleep disorder on quality of life of patients with Duchenne muscular dystrophy. (26701140)
2016
36
Longitudinal MRI quantification of muscle degeneration in Duchenne muscular dystrophy. (27606343)
2016
37
The Olympic rings of Duchenne muscular dystrophy - cardiac computed tomography wins gold. (27599971)
2016
38
Study of Duchenne muscular dystrophy long-term survivors aged 40 years and older living in specialized institutions in Japan. (28003112)
2016
39
Duchenne muscular dystrophy drugs face tough path to approval. (27186594)
2016
40
Simvastatin offers new prospects for the treatment of Duchenne muscular dystrophy. (27141415)
2016
41
Management of scoliosis in patients with Duchenne muscular dystrophy and spinal muscular atrophy: A literature review. (26966797)
2016
42
Anti-inflammatory drugs for Duchenne muscular dystrophy: focus on skeletal muscle-releasing factors. (27621596)
2016
43
Recurrent Fat Embolic Strokes in a Patient With Duchenne Muscular Dystrophy With Long Bone Fractures and a Patent Foramen Ovale. (27595520)
2016
44
Respiratory impedance in patients with Duchenne muscular dystrophy. (27129130)
2016
45
Engaging Participants in Rare Disease Research: A Qualitative Study of Duchenne Muscular Dystrophy. (27136712)
2016
46
Unique pattern of late gadolinium enhancement on cardiac magnetic resonance imaging in Duchenne muscular dystrophy. (27212861)
2016
47
Impact of P2RX7 ablation on the morphological, mechanical and tissue properties of bones in a murine model of duchenne muscular dystrophy. (27663621)
2016
48
Levels of inflammation and oxidative stress, and a role for taurine in dystropathology of the Golden Retriever Muscular Dystrophy dog model for Duchenne Muscular Dystrophy. (27611888)
2016
49
Usefulness of continuous actigraph monitoring in the assessment of the effect of corticosteroid treatment for Duchenne muscular dystrophy: a case report. (27942159)
2016
50
Serum Levels of MicroRNA-206 and Novel Mini-STR Assays for Carrier Detection in Duchenne Muscular Dystrophy. (27529242)
2016

Variations for Duchenne Muscular Dystrophy

About this section

UniProtKB/Swiss-Prot genetic disease variations for Duchenne Muscular Dystrophy:

70
id Symbol AA change Variation ID SNP ID
1DMDp.Leu54ArgVAR_005147
2DMDp.Lys773GluVAR_005154
3DMDp.Asp645GlyVAR_023541
4DMDp.Cys3313PheVAR_023545
5DMDp.Asp3335HisVAR_023546
6DMDp.Cys3340TyrVAR_023547

Clinvar genetic disease variations for Duchenne Muscular Dystrophy:

5 (show all 389)
id Gene Variation Type Significance SNP ID Assembly Location
1DMDNM_ 004006.2(DMD): c.3469G> T (p.Glu1157Ter)SNVPathogenicrs128625226GRCh37Chr X, 32472913: 32472913
2DMDNM_ 004006.2(DMD): c.2791G> T (p.Glu931Ter)SNVPathogenicrs128625227GRCh37Chr X, 32503048: 32503048
3DMDNM_ 004006.2(DMD): c.5551C> T (p.Gln1851Ter)SNVPathogenicrs128625228GRCh37Chr X, 32364095: 32364095
4DMDNM_ 004006.2(DMD): c.8944C> T (p.Arg2982Ter)SNVPathogenicrs128625229GRCh37Chr X, 31462738: 31462738
5DMDDMD, IVS68, T-A, +2SNVPathogenic
6DMDNM_ 004006.2(DMD): c.10108C> T (p.Arg3370Ter)SNVPathogenicrs104894787GRCh37Chr X, 31196901: 31196901
7DMDDMD, EX73-76DELdeletionPathogenic
8DMDDMD, 1-BP DEL, 10662TdeletionPathogenic
9DMDDMD, 1-BP INS, EX12insertionPathogenic
10DMDDMD, AG-T, EX48undetermined variantPathogenic
11DMDDMD, EX21DELdeletionPathogenic
12DMDDMD, EX18DELdeletionPathogenic
13DMDNM_ 004006.2(DMD): c.6955C> T (p.Gln2319Ter)SNVPathogenicrs128625230GRCh37Chr X, 31893448: 31893448
14DMDNM_ 004006.2(DMD): c.253C> T (p.Gln85Ter)SNVPathogenicrs128626234GRCh37Chr X, 32862911: 32862911
15DMDNM_ 004006.2(DMD): c.2302C> T (p.Arg768Ter)SNVPathogenicrs201366610GRCh37Chr X, 32519950: 32519950
16DMDDMD, 1-BP DEL, 2568CdeletionPathogenic
17DMDNM_ 004006.2(DMD): c.2314G> T (p.Glu772Ter)SNVPathogenicrs267606770GRCh37Chr X, 32519938: 32519938
18DMDNM_ 004006.2(DMD): c.433C> T (p.Arg145Ter)SNVPathogenicrs128626235GRCh37Chr X, 32834682: 32834682
19DMDNM_ 004006.2(DMD): c.161T> G (p.Leu54Arg)SNVPathogenicrs128626231GRCh37Chr X, 32867870: 32867870
20DMDDMD, IVS26, T-G, +2SNVPathogenic
21DMDDMD, 1-BP DEL, 724CdeletionPathogenic
22DMDNM_ 004006.2(DMD): c.2017C> T (p.Gln673Ter)SNVPathogenicrs128626232GRCh37Chr X, 32563427: 32563427
23DMDDMD, 1-BP DEL, 10334C AND IVS69, G-T, +1deletionPathogenic
24DMDNM_ 004006.2(DMD): c.178C> T (p.Gln60Ter)SNVPathogenicrs128626233GRCh37Chr X, 32867853: 32867853
25DMDDMD, 1-BP INS, 402AinsertionPathogenic
26DMDNM_ 000109.3(DMD): c.700C> T (p.Gln234Ter)SNVPathogenicrs128626238GRCh37Chr X, 32717336: 32717336
27DMDNM_ 004006.2(DMD): c.748G> T (p.Glu250Ter)SNVPathogenicrs128626239GRCh37Chr X, 32717312: 32717312
28DMDDMD, 11-BP DEL, NT989deletionPathogenic
29DMDDMD, 1-BP INS, NT1554insertionPathogenic
30DMDNM_ 004006.2(DMD): c.1489C> T (p.Gln497Ter)SNVPathogenicrs128626241GRCh37Chr X, 32613987: 32613987
31DMDNM_ 004006.2(DMD): c.1952G> A (p.Trp651Ter)SNVPathogenicrs128626242GRCh37Chr X, 32583859: 32583859
32DMDNM_ 004006.2(DMD): c.2308A> T (p.Lys770Ter)SNVPathogenicrs128626243GRCh37Chr X, 32519944: 32519944
33DMDNM_ 004006.2(DMD): c.2317A> G (p.Lys773Glu)SNVPathogenicrs128626244GRCh37Chr X, 32519935: 32519935
34DMDDMD, 52-BP DELdeletionPathogenic
35DMDDMD, 1-BP INS, NT2928insertionPathogenic
36DMDNM_ 004006.2(DMD): c.3121C> T (p.Gln1041Ter)SNVPathogenicrs128626245GRCh37Chr X, 32486656: 32486656
37DMDNM_ 004006.2(DMD): c.3188G> A (p.Trp1063Ter)SNVPathogenicrs128626246GRCh37Chr X, 32482791: 32482791
38DMDNM_ 004006.2(DMD): c.4213C> T (p.Gln1405Ter)SNVPathogenicrs128626247GRCh37Chr X, 32429889: 32429889
39DMDNM_ 004006.2(DMD): c.4414C> T (p.Gln1472Ter)SNVPathogenicrs128626248GRCh37Chr X, 32407722: 32407722
40DMDNM_ 004006.2(DMD): c.5899C> T (p.Arg1967Ter)SNVPathogenicrs128626249GRCh37Chr X, 32360240: 32360240
41DMDDMD, 1-BP DEL, 6408CdeletionPathogenic
42DMDNM_ 004006.2(DMD): c.6292C> T (p.Arg2098Ter)SNVPathogenicrs128626250GRCh37Chr X, 32235179: 32235179
43DMDNM_ 004006.2(DMD): c.6373C> T (p.Gln2125Ter)SNVPathogenicrs128626251GRCh37Chr X, 32235098: 32235098
44DMDDMD, 17-BP DEL, NT6982deletionPathogenic
45DMDNM_ 004006.2(DMD): c.6790C> T (p.Gln2264Ter)SNVPathogenicrs128626252GRCh37Chr X, 31947835: 31947835
46DMDDMD, 1-BP INS, 7188AinsertionPathogenic
47DMDDMD, IVS47, G-A, +1, EX48DELdeletionPathogenic
48DMDNM_ 004006.2(DMD): c.7402G> T (p.Glu2468Ter)SNVPathogenicrs128626253GRCh37Chr X, 31792217: 31792217
49DMDNM_ 004006.2(DMD): c.9197C> A (p.Ser3066Ter)SNVPathogenicrs128626254GRCh37Chr X, 31341742: 31341742
50DMDDMD, 4-BP DEL, NT9679deletionPathogenic
51DMDDMD, IVS65, G-A, +1SNVPathogenic
52DMDNM_ 004006.2(DMD): c.10141C> T (p.Arg3381Ter)SNVPathogenicrs104894790GRCh37Chr X, 31196868: 31196868
53DMDDMD, IVS70, G-T, +5SNVPathogenic
54DMDDMD, 8-BP DEL, 1-BP INS, NT10692indelPathogenic
55DMDNM_ 004006.2(DMD): c.9568C> T (p.Arg3190Ter)SNVPathogenicrs104894797GRCh37Chr X, 31224780: 31224780
56DMDNM_ 004006.2(DMD): c.3940C> T (p.Arg1314Ter)SNVPathogenicrs5030730GRCh37Chr X, 32456489: 32456489
57DMDDMD, 1-BP DEL, 377AdeletionPathogenic
58DMDNM_ 004006.2(DMD): c.8713C> T (p.Arg2905Ter)SNVPathogenicrs128627256GRCh37Chr X, 31496447: 31496447
59DMDNM_ 004006.2(DMD): c.5985T> G (p.Tyr1995Ter)SNVPathogenicrs128627257GRCh37Chr X, 32328331: 32328331
60DMDNM_ 004006.2(DMD): c.1812+1G> ASNVPathogenic/ Likely pathogenicrs373286166GRCh37Chr X, 32591646: 32591646
61DMDNM_ 004006.2(DMD): c.9164-1G> CSNVPathogenicrs398124082GRCh37Chr X, 31341776: 31341776
62DMDNM_ 004006.2(DMD): c.8680G> T (p.Glu2894Ter)SNVPathogenicrs727503802GRCh37Chr X, 31496480: 31496480
63DMDNM_ 004006.2(DMD): c.5363C> G (p.Ser1788Ter)SNVPathogenicrs199774535GRCh37Chr X, 32366608: 32366608
64DMDNM_ 004006.2(DMD): c.3532G> T (p.Glu1178Ter)SNVPathogenicrs727503836GRCh38Chr X, 32454733: 32454733
65DMDNM_ 004006.2(DMD): c.2956C> T (p.Gln986Ter)SNVPathogenicrs727503844GRCh38Chr X, 32468704: 32468704
66DMDNM_ 004006.2(DMD): c.2755A> T (p.Lys919Ter)SNVPathogenicrs727503850GRCh37Chr X, 32503084: 32503084
67DMDNM_ 004006.2(DMD): c.2484T> G (p.Tyr828Ter)SNVPathogenicrs727503858GRCh37Chr X, 32509532: 32509532
68DMDNM_ 004006.2(DMD): c.883C> T (p.Arg295Ter)SNVPathogenicrs727503864GRCh38Chr X, 32697947: 32697947
69DMDNM_ 004006.2(DMD): c.14_ 15delAAinsT (p.Glu5Valfs)indelPathogenicrs796065325GRCh37Chr X, 33229415: 33229416
70DMDNM_ 004006.2(DMD): c.1093C> T (p.Gln365Ter)SNVPathogenicrs794726993GRCh37Chr X, 32663137: 32663137
71DMDNM_ 004006.2(DMD): c.1070delC (p.Ser357Leufs)deletionPathogenicrs794726994GRCh37Chr X, 32663160: 32663160
72DMDNM_ 004006.2(DMD): c.1286C> G (p.Ser429Ter)SNVPathogenicrs398123853GRCh37Chr X, 32662294: 32662294
73DMDNM_ 004006.2(DMD): c.1150-2A> GSNVPathogenicrs794727030GRCh37Chr X, 32662432: 32662432
74DMDNM_ 004006.2(DMD): c.1533_ 1536delTCAC (p.His512Trpfs)deletionPathogenicrs794727097GRCh37Chr X, 32613940: 32613943
75DMDNM_ 004006.2(DMD): c.1704+1G> ASNVPathogenicrs794727123GRCh37Chr X, 32591861: 32591861
76DMDNM_ 004006.2(DMD): c.1912C> T (p.Gln638Ter)SNVPathogenicrs794727170GRCh37Chr X, 32583899: 32583899
77DMDNM_ 004006.2(DMD): c.2601_ 2602delAA (p.Gln869Valfs)deletionPathogenicrs794727322GRCh37Chr X, 32509414: 32509415
78DMDNM_ 004006.2(DMD): c.2479G> T (p.Glu827Ter)SNVPathogenicrs794727323GRCh37Chr X, 32509537: 32509537
79DMDNM_ 004006.2(DMD): c.2803+1G> CSNVPathogenicrs398123908GRCh37Chr X, 32503035: 32503035
80DMDNM_ 004006.2(DMD): c.2804-2A> TSNVPathogenicrs794727357GRCh37Chr X, 32490428: 32490428
81DMDNM_ 004006.2(DMD): c.2815_ 2816delTT (p.Leu939Alafs)deletionPathogenicrs794727358GRCh37Chr X, 32490414: 32490415
82DMDNM_ 004006.2(DMD): c.2933_ 2934delGA (p.Arg978Thrfs)deletionPathogenicrs794727359GRCh37Chr X, 32490296: 32490297
83DMDNM_ 004006.2(DMD): c.3497_ 3500delTATC (p.Leu1166Glnfs)deletionPathogenicrs794727421GRCh37Chr X, 32472882: 32472885
84DMDNM_ 004006.2(DMD): c.3535G> T (p.Glu1179Ter)SNVPathogenicrs794727422GRCh37Chr X, 32472847: 32472847
85DMDNM_ 004006.2(DMD): c.3838A> T (p.Lys1280Ter)SNVPathogenicrs794727463GRCh37Chr X, 32459380: 32459380
86DMDNM_ 004006.2(DMD): c.133C> T (p.Gln45Ter)SNVPathogenicrs794727499GRCh37Chr X, 32867898: 32867898
87DMDNM_ 004006.2(DMD): c.4315A> T (p.Arg1439Ter)SNVPathogenicrs794727550GRCh37Chr X, 32408217: 32408217
88DMDNM_ 004006.2(DMD): c.4523delT (p.Leu1508Cysfs)deletionPathogenicrs794727567GRCh37Chr X, 32404578: 32404578
89DMDNM_ 004006.2(DMD): c.4675-2A> GSNVPathogenicrs794727575GRCh37Chr X, 32398799: 32398799
90DMDNM_ 004006.2(DMD): c.5697delA (p.Lys1899Asnfs)deletionPathogenicrs794727661GRCh37Chr X, 32361293: 32361293
91DMDNM_ 004006.2(DMD): c.5868G> A (p.Trp1956Ter)SNVPathogenicrs794727666GRCh38Chr X, 32342154: 32342154
92DMDNM_ 004006.2(DMD): c.6238delC (p.Gln2080Serfs)deletionPathogenicrs794727672GRCh37Chr X, 32305698: 32305698
93DMDNM_ 004006.2(DMD): c.6673_ 6674insGTTT (p.Leu2225Cysfs)insertionPathogenicrs797044743GRCh37Chr X, 31950285: 31950286
94DMDNM_ 004006.2(DMD): c.6982A> T (p.Lys2328Ter)SNVPathogenicrs754896795GRCh37Chr X, 31893421: 31893421
95DMDNM_ 004006.2(DMD): c.291dupT (p.Asp98Terfs)duplicationPathogenicrs797044756GRCh37Chr X, 32841478: 32841478
96DMDNM_ 004006.2(DMD): c.7247dupT (p.Leu2416Phefs)duplicationPathogenicrs797044764GRCh37Chr X, 31838154: 31838154
97DMDNM_ 004006.2(DMD): c.7295_ 7296delCC (p.Thr2432Asnfs)deletionPathogenicrs794727746GRCh37Chr X, 31838105: 31838106
98DMDNM_ 004006.2(DMD): c.7444delC (p.Thr2483Profs)deletionPathogenicrs794727749GRCh37Chr X, 31792175: 31792175
99DMDNM_ 004006.2(DMD): c.8184delC (p.Lys2729Argfs)deletionPathogenicrs794727763GRCh37Chr X, 31645823: 31645823
100DMDNM_ 004006.2(DMD): c.8656C> T (p.Gln2886Ter)SNVPathogenicrs201361100GRCh37Chr X, 31497112: 31497112
101DMDNM_ 004006.2(DMD): c.8669-2A> CSNVPathogenicrs794727770GRCh37Chr X, 31496493: 31496493
102DMDNM_ 004006.2(DMD): c.415_ 428delATTCTCCTGAGCTG (p.Ile139Glyfs)deletionPathogenicrs794727795GRCh37Chr X, 32834687: 32834700
103DMDNM_ 004006.2(DMD): c.9216C> G (p.Tyr3072Ter)SNVPathogenicrs794727820GRCh37Chr X, 31341723: 31341723
104DMDNM_ 004006.2(DMD): c.9978C> G (p.Tyr3326Ter)SNVPathogenicrs794727832GRCh37Chr X, 31198595: 31198595
105DMDNM_ 004006.2(DMD): c.565C> T (p.Gln189Ter)SNVPathogenicrs794727861GRCh37Chr X, 32827694: 32827694
106DMDNM_ 004006.2(DMD): c.547dupT (p.Trp183Leufs)duplicationPathogenicrs796065333GRCh38Chr X, 32809595: 32809595
107DMDNM_ 004006.2(DMD): c.627delA (p.Ile209Metfs)deletionPathogenicrs794727862GRCh37Chr X, 32827632: 32827632
108DMDNM_ 004006.2(DMD): c.572C> G (p.Ser191Ter)SNVPathogenicrs794727863GRCh37Chr X, 32827687: 32827687
109DMDNM_ 004006.2(DMD): c.10554-2A> GSNVPathogenicrs794727890GRCh37Chr X, 31165637: 31165637
110DMDNM_ 004006.2(DMD): c.6614+3310G> TSNVLikely pathogenicrs797045526GRCh37Chr X, 31983146: 31983146
111DMDNM_ 004006.2(DMD): c.4000G> T (p.Gly1334Ter)SNVPathogenic/ Likely pathogenicrs146880270GRCh38Chr X, 32438312: 32438312
112DMDNM_ 004006.2(DMD): c.10133delA (p.Asn3378Thrfs)deletionPathogenicrs863224975GRCh37Chr X, 31196876: 31196876
113DMDNM_ 004006.2(DMD): c.10223+1G> CSNVPathogenicrs398123834GRCh37Chr X, 31196785: 31196785
114DMDNM_ 004006.2(DMD): c.10412T> G (p.Leu3471Ter)SNVPathogenicrs863224976GRCh38Chr X, 31169584: 31169584
115DMDNM_ 004006.2(DMD): c.10504G> T (p.Glu3502Ter)SNVPathogenicrs863224977GRCh37Chr X, 31187609: 31187609
116DMDNM_ 004006.2(DMD): c.1150-2deldeletionPathogenicrs863224978GRCh37Chr X, 32662432: 32662432
117DMDNM_ 004006.2(DMD): c.1324C> T (p.Gln442Ter)SNVPathogenicrs863224979GRCh38Chr X, 32644139: 32644139
118DMDNM_ 004006.2(DMD): c.1331+1G> ASNVPathogenicrs863224980GRCh38Chr X, 32644131: 32644131
119DMDNM_ 004006.2(DMD): c.1388G> A (p.Trp463Ter)SNVPathogenicrs863224981GRCh38Chr X, 32614397: 32614397
120DMDNM_ 004006.2(DMD): c.1483-1G> CSNVPathogenicrs863224982GRCh37Chr X, 32613994: 32613994
121DMDNM_ 004006.2(DMD): c.1663C> T (p.Gln555Ter)SNVPathogenicrs863224983GRCh38Chr X, 32573786: 32573786
122DMDNM_ 004006.2(DMD): c.1683G> A (p.Trp561Ter)SNVPathogenicrs863224984GRCh38Chr X, 32573766: 32573766
123DMDNM_ 004006.2(DMD): c.2215G> T (p.Glu739Ter)SNVPathogenicrs863224985GRCh38Chr X, 32518085: 32518085
124DMDNM_ 004006.2(DMD): c.2368C> T (p.Gln790Ter)SNVPathogenicrs762860653GRCh37Chr X, 32519884: 32519884
125DMDNM_ 004006.2(DMD): c.2407C> T (p.Gln803Ter)SNVPathogenicrs863224986GRCh38Chr X, 32491492: 32491492
126DMDNM_ 004006.2(DMD): c.2611A> T (p.Lys871Ter)SNVPathogenicrs863224987GRCh38Chr X, 32491288: 32491288
127DMDNM_ 004006.2(DMD): c.2623-3C> GSNVPathogenicrs863224988GRCh37Chr X, 32503219: 32503219
128DMDNM_ 004006.2(DMD): c.265-2A> GSNVPathogenicrs863224989GRCh37Chr X, 32841506: 32841506
129DMDNM_ 004006.2(DMD): c.2797C> T (p.Gln933Ter)SNVPathogenicrs756949497GRCh38Chr X, 32484925: 32484925
130DMDNM_ 004006.2(DMD): c.280delA (p.Ile94Leufs)deletionPathogenicrs863224990GRCh37Chr X, 32841489: 32841489
131DMDNM_ 004006.2(DMD): c.2804-2A> CSNVPathogenicrs794727357GRCh37Chr X, 32490428: 32490428
132DMDNM_ 004006.2(DMD): c.282dupT (p.Gly95Trpfs)duplicationPathogenicrs863224991GRCh37Chr X, 32841487: 32841487
133DMDNM_ 004006.2(DMD): c.2991C> G (p.Tyr997Ter)SNVPathogenicrs863224992GRCh38Chr X, 32468669: 32468669
134DMDNM_ 004006.2(DMD): c.3427C> T (p.Gln1143Ter)SNVPathogenicrs863224993GRCh37Chr X, 32481561: 32481561
135DMDNM_ 004006.2(DMD): c.3433-5_ 3434deldeletionPathogenicrs863224994GRCh38Chr X, 32454831: 32454837
136DMDNM_ 004006.2(DMD): c.355C> T (p.Gln119Ter)SNVPathogenicrs863224995GRCh38Chr X, 32823297: 32823297
137DMDNM_ 004006.2(DMD): c.358-2A> GSNVPathogenicrs863224996GRCh38Chr X, 32816642: 32816642
138DMDNM_ 004006.2(DMD): c.4240C> T (p.Gln1414Ter)SNVPathogenicrs863224997GRCh37Chr X, 32408292: 32408292
139DMDNM_ 004006.2(DMD): c.4606G> T (p.Glu1536Ter)SNVPathogenicrs863224998GRCh37Chr X, 32404495: 32404495
140DMDNM_ 004006.2(DMD): c.4729C> T (p.Arg1577Ter)SNVPathogenicrs863224999GRCh37Chr X, 32398743: 32398743
141DMDNM_ 004006.2(DMD): c.4918delA (p.Thr1640Glnfs)deletionPathogenicrs863225000GRCh37Chr X, 32383244: 32383244
142DMDNM_ 004006.2(DMD): c.5131C> T (p.Gln1711Ter)SNVPathogenicrs863225001GRCh38Chr X, 32364605: 32364605
143DMDNM_ 004006.2(DMD): c.5350G> T (p.Glu1784Ter)SNVPathogenicrs777864641GRCh37Chr X, 32366621: 32366621
144DMDNM_ 004006.2(DMD): c.5461G> T (p.Glu1821Ter)SNVPathogenicrs863225002GRCh38Chr X, 32346068: 32346068
145DMDNM_ 004006.2(DMD): c.5602_ 5605delAGAA (p.Arg1868Glufs)deletionPathogenicrs863225003GRCh37Chr X, 32361385: 32361388
146DMDNM_ 004006.2(DMD): c.5641C> T (p.Gln1881Ter)SNVPathogenicrs863225004GRCh38Chr X, 32343232: 32343232
147DMDNM_ 004006.2(DMD): c.5917C> T (p.Gln1973Ter)SNVPathogenicrs863225005GRCh38Chr X, 32342105: 32342105
148DMDNM_ 004006.2(DMD): c.6128_ 6131delATAG (p.Asp2043Valfs)deletionPathogenicrs863225006GRCh38Chr X, 32287688: 32287691
149DMDNM_ 004006.2(DMD): c.6611dupA (p.Arg2205Glufs)duplicationPathogenicrs863225007GRCh38Chr X, 31968342: 31968342
150DMDNM_ 004006.2(DMD): c.7105G> T (p.Glu2369Ter)SNVPathogenicrs863225008GRCh37Chr X, 31854930: 31854930
151DMDNM_ 004006.2(DMD): c.7755G> A (p.Trp2585Ter)SNVPathogenicrs762394978GRCh38Chr X, 31679492: 31679492
152DMDNM_ 004006.2(DMD): c.7817G> A (p.Trp2606Ter)SNVPathogenicrs863225009GRCh38Chr X, 31679430: 31679430
153DMDNM_ 004006.2(DMD): c.8027+2T> ASNVPathogenicrs863225010GRCh38Chr X, 31657988: 31657988
154DMDNM_ 004006.2(DMD): c.8038C> T (p.Arg2680Ter)SNVPathogenicrs863225011GRCh37Chr X, 31645969: 31645969
155DMDNM_ 004006.2(DMD): c.8357G> A (p.Trp2786Ter)SNVPathogenicrs863225012GRCh38Chr X, 31507314: 31507314
156DMDNM_ 004006.2(DMD): c.8390+2T> CSNVPathogenicrs863225013GRCh38Chr X, 31507279: 31507279
157DMDNM_ 004006.2(DMD): c.8970_ 8971delGA (p.Asn2991Argfs)deletionPathogenicrs863225014GRCh38Chr X, 31444594: 31444595
158DMDNM_ 004006.2(DMD): c.9204_ 9207delCAAA (p.Asn3068Lysfs)deletionPathogenicrs863225015GRCh38Chr X, 31323615: 31323618
159DMDNM_ 004006.2(DMD): c.94-1G> ASNVPathogenicrs863225016GRCh37Chr X, 32867938: 32867938
160DMDNM_ 004006.2(DMD): c.9551dupA (p.Asn3184Lysfs)duplicationPathogenicrs863225017GRCh37Chr X, 31227627: 31227627
161DMDNM_ 004006.2(DMD): c.9938_ 9941dupGTAA (p.Asn3314Lysfs)duplicationPathogenicrs863225018GRCh37Chr X, 31200888: 31200891
162DMDNM_ 004006.2(DMD): c.10509_ 10510delAG (p.Glu3505Alafs)deletionLikely pathogenicrs878854366GRCh37Chr X, 31187603: 31187604
163DMDNM_ 004006.2(DMD): c.6502G> T (p.Glu2168Ter)SNVPathogenicrs779739455GRCh38Chr X, 31968451: 31968451
164DMDNM_ 004006.2(DMD): c.1504C> T (p.Gln502Ter)SNVPathogenicrs878854618GRCh38Chr X, 32595855: 32595855
165DMDNM_ 004006.2(DMD): c.1705-1G> TSNVPathogenicrs878854619GRCh37Chr X, 32591755: 32591755
166DMDNM_ 004006.2(DMD): c.4870C> T (p.Gln1624Ter)SNVPathogenicrs762250680GRCh37Chr X, 32383292: 32383292
167DMDNM_ 004006.2(DMD): c.5506C> T (p.Gln1836Ter)SNVPathogenicrs770845480GRCh38Chr X, 32346023: 32346023
168DMDNM_ 004006.2(DMD): c.7781delA (p.Gln2594Argfs)deletionPathogenicrs878854621GRCh38Chr X, 31679466: 31679466
169DMDNM_ 004006.2(DMD): c.7661-?_ 10921+?deldeletionPathogenic
170DMDNM_ 004006.2(DMD): c.94-?_ 4233+?deldeletionPathogenic
171DMDNM_ 004006.2(DMD): c.32-?_ 93+?dup62duplicationPathogenicGRCh37Chr X, 33038256: 33038317
172DMDNM_ 004006.2(DMD): c.10150delA (p.Arg3384Glyfs)deletionPathogenicrs886039663GRCh37Chr X, 31196859: 31196859
173DMDNM_ 004006.2(DMD): c.8459G> A (p.Trp2820Ter)SNVLikely pathogenicrs886039785GRCh37Chr X, 31514993: 31514993
174DMDNM_ 004006.2(DMD): c.31+36947G> ASNVPathogenicrs886042106GRCh37Chr X, 33192452: 33192452
175DMDNM_ 004006.2(DMD): c.8217+18052A> GSNVLikely pathogenicrs886042109GRCh37Chr X, 31627738: 31627738
176DMDNM_ 004006.2(DMD): c.5032C> T (p.Gln1678Ter)SNVPathogenicrs886042154GRCh37Chr X, 32382821: 32382821
177DMDNM_ 004006.2(DMD): c.5089C> T (p.Gln1697Ter)SNVPathogenicrs886042347GRCh37Chr X, 32382764: 32382764
178DMDNM_ 004006.2(DMD): c.2603delG (p.Ser868Ilefs)deletionPathogenicrs886042348GRCh37Chr X, 32509413: 32509413
179DMDNM_ 004006.2(DMD): c.2512C> T (p.Gln838Ter)SNVPathogenicrs886042351GRCh37Chr X, 32509504: 32509504
180DMDNM_ 004006.2(DMD): c.8111_ 8112insTTGCCTG (p.Trp2704Cysfs)insertionPathogenicrs886042373GRCh37Chr X, 31645895: 31645896
181DMDNM_ 004006.2(DMD): c.2316_ 2317delGA (p.Lys773Valfs)deletionPathogenicrs886042437GRCh37Chr X, 32519935: 32519936
182DMDNM_ 004006.2(DMD): c.10477C> T (p.Gln3493Ter)SNVPathogenicrs886042495GRCh37Chr X, 31187636: 31187636
183DMDNM_ 004006.2(DMD): c.1417A> T (p.Lys473Ter)SNVPathogenicrs886042499GRCh37Chr X, 32632485: 32632485
184DMDNM_ 004006.2(DMD): c.93+1G> ASNVPathogenicrs886042604GRCh37Chr X, 33038255: 33038255
185DMDNM_ 004006.2(DMD): c.1387_ 1408del22 (p.Trp463Glufs)deletionPathogenicrs886042616GRCh37Chr X, 32632494: 32632515
186DMDNM_ 004006.2(DMD): c.2168+2T> GSNVPathogenicrs886042618GRCh37Chr X, 32563274: 32563274
187DMDNM_ 004006.2(DMD): c.10279C> T (p.Gln3427Ter)SNVPathogenicrs886042691GRCh37Chr X, 31191705: 31191705
188DMDNM_ 004006.2(DMD): c.5140G> T (p.Glu1714Ter)SNVPathogenicrs886042747GRCh37Chr X, 32382713: 32382713
189DMDNM_ 004006.2(DMD): c.1047dupA (p.Glu350Argfs)duplicationPathogenicGRCh38Chr X, 32645066: 32645066
190DMDNM_ 004006.2(DMD): c.10101_ 10103delAGA (p.Glu3367del)deletionPathogenicrs886042840GRCh37Chr X, 31196906: 31196908
191DMDNM_ 004006.2(DMD): c.10062T> A (p.Tyr3354Ter)SNVPathogenicrs886042875GRCh37Chr X, 31198511: 31198511
192DMDNM_ 004006.2(DMD): c.649+1G> TSNVPathogenicrs398124032GRCh37Chr X, 32827609: 32827609
193DMDNM_ 004006.2(DMD): c.457C> T (p.Gln153Ter)SNVPathogenicrs886042983GRCh37Chr X, 32834658: 32834658
194DMDNM_ 004006.2(DMD): c.5739+1G> TSNVPathogenicrs886043041GRCh37Chr X, 32361250: 32361250
195DMDNM_ 004006.2(DMD): c.3238delG (p.Asp1080Ilefs)deletionPathogenicrs886043052GRCh37Chr X, 32482741: 32482741
196DMDNM_ 004006.2(DMD): c.10361delA (p.Tyr3454Phefs)deletionPathogenicrs886043084GRCh37Chr X, 31190498: 31190498
197DMDNM_ 004006.2(DMD): c.319dupA (p.Thr107Asnfs)duplicationPathogenicGRCh37Chr X, 32841450: 32841450
198DMDNM_ 004006.2(DMD): c.6393_ 6394insCA (p.Ile2132Glnfs)insertionPathogenicrs886043157GRCh37Chr X, 32235077: 32235078
199DMDNM_ 004006.2(DMD): c.1594C> T (p.Gln532Ter)SNVPathogenicrs763936813GRCh37Chr X, 32613882: 32613882
200DMDNM_ 004006.2(DMD): c.1150-1G> ASNVPathogenicrs886043251GRCh37Chr X, 32662431: 32662431
201DMDNM_ 004006.2(DMD): c.179_ 180insGGGCA (p.Lys61Glyfs)insertionPathogenicrs886043288GRCh37Chr X, 32867851: 32867852
202DMDNM_ 004006.2(DMD): c.1482+1G> CSNVPathogenicrs398123862GRCh37Chr X, 32632419: 32632419
203DMDNM_ 004006.2(DMD): c.4550_ 4556delCTGAAGT (p.Ser1517Trpfs)deletionPathogenicrs886043348GRCh37Chr X, 32404545: 32404551
204DMDNM_ 004006.2(DMD): c.10453delC (p.Leu3485Terfs)deletionPathogenicrs886043375GRCh37Chr X, 31187660: 31187660
205DMDNM_ 004006.2(DMD): c.1530dupC (p.Thr511Hisfs)duplicationPathogenicrs886043376GRCh37Chr X, 32613946: 32613946
206DMDNM_ 004006.2(DMD): c.6223C> T (p.Gln2075Ter)SNVPathogenicrs886043428GRCh37Chr X, 32305713: 32305713
207DMDNM_ 004006.2(DMD): c.4174C> T (p.Gln1392Ter)SNVPathogenicrs886043496GRCh37Chr X, 32429928: 32429928
208DMDNC_ 000023.10: g.32472914_ 32472915delCCinsGindelPathogenicGRCh37Chr X, 32472914: 32472915
209DMDNM_ 004006.2(DMD): c.3747G> A (p.Trp1249Ter)SNVPathogenicrs886043635GRCh37Chr X, 32466612: 32466612
210DMDNM_ 004006.2(DMD): c.1956delT (p.Asp652Glufs)deletionPathogenicrs886043640GRCh37Chr X, 32583855: 32583855
211DMDNM_ 004006.2(DMD): c.10126delC (p.Leu3376Terfs)deletionPathogenicrs886043676GRCh37Chr X, 31196883: 31196883
212DMDNM_ 004006.2(DMD): c.2052_ 2053delAG (p.Val685Asnfs)deletionPathogenicrs886043699GRCh38Chr X, 32545274: 32545275
213DMDNM_ 004006.2(DMD): c.5360dupA (p.Asn1787Lysfs)duplicationPathogenicGRCh37Chr X, 32366611: 32366611
214DMDNM_ 004006.2(DMD): c.10572T> A (p.Tyr3524Ter)SNVPathogenicrs886043817GRCh37Chr X, 31165617: 31165617
215DMDNM_ 004006.2(DMD): c.186+2T> ASNVPathogenicrs886043822GRCh37Chr X, 32867843: 32867843
216DMDNM_ 004006.2(DMD): c.2861G> A (p.Trp954Ter)SNVPathogenicrs886043909GRCh37Chr X, 32490369: 32490369
217DMDNM_ 004006.2(DMD): c.9563+1G> ASNVPathogenicrs886043989GRCh37Chr X, 31227614: 31227614
218DMDNM_ 004006.2(DMD): c.4483C> T (p.Gln1495Ter)SNVPathogenicrs748769566GRCh37Chr X, 32407653: 32407653
219DMDNM_ 004006.2(DMD): c.5881_ 5882delAG (p.Ser1961Glnfs)deletionPathogenicrs886044193GRCh37Chr X, 32360257: 32360258
220DMDNM_ 004006.2(DMD): c.8669-1G> CSNVPathogenicrs886044324GRCh37Chr X, 31496492: 31496492
221DMDNM_ 004006.2(DMD): c.10651_ 10652insCC (p.Gln3551Profs)insertionPathogenicrs886044325GRCh37Chr X, 31165537: 31165538
222DMDNM_ 004006.2(DMD): c.4312C> T (p.Gln1438Ter)SNVPathogenicrs886044402GRCh37Chr X, 32408220: 32408220
223DMDNM_ 004006.2(DMD): c.1534_ 1535insTC (p.His512Leufs)insertionPathogenicrs886044440GRCh37Chr X, 32613941: 32613942
224DMDNM_ 004006.2(DMD): c.5344G> T (p.Glu1782Ter)SNVPathogenicrs886044455GRCh37Chr X, 32366627: 32366627
225DMDNM_ 004006.2(DMD): c.6804_ 6807delACAA (p.Lys2268Asnfs)deletionPathogenicrs886044490GRCh37Chr X, 31947818: 31947821
226DMDNM_ 004006.2(DMD): c.93+1_ 93+5delGTAAGdeletionPathogenicrs886044495GRCh37Chr X, 33038251: 33038255
227DMDNM_ 004006.2(DMD): c.1128dupA (p.Asp377Argfs)duplicationPathogenicrs886044624GRCh37Chr X, 32663102: 32663102
228DMDNM_ 004006.2(DMD): c.9G> A (p.Trp3Ter)SNVPathogenicrs398122853GRCh37Chr X, 33229421: 33229421
229DMDNM_ 004006.2(DMD): c.5652delG (p.Arg1884Serfs)deletionPathogenicrs1057518692GRCh37Chr X, 32361338: 32361338
230DMDNC_ 000023.10: g.(31838467_ 31853996)_ (31855256_ 31867499)deldeletionPathogenicGRCh37Chr X, 31838467: 31867499
231DMDNC_ 000023.10: g.(?_ 31792077)_ (31854939_ ?)deldeletionPathogenicGRCh37Chr X, 31792077: 31854939
232DMDNM_ 004006.2(DMD): c.3603+3A> TSNVPathogenicrs1060502615GRCh38Chr X, 32454659: 32454659
233DMDNM_ 004006.2(DMD): c.9040dupC (p.Leu3014Profs)duplicationPathogenicGRCh38Chr X, 31444525: 31444525
234DMDNM_ 004006.2(DMD): c.832-15A> GSNVLikely pathogenicrs72470513GRCh38Chr X, 32698013: 32698013
235DMDNM_ 004006.2(DMD): c.8391-1_ 8391delGGinsAAindelLikely pathogenicrs1060502619GRCh38Chr X, 31496944: 31496945
236DMDNM_ 004006.2(DMD): c.6662delA (p.Asn2221Metfs)deletionPathogenicrs1060502620GRCh38Chr X, 31932180: 31932180
237DMDNM_ 004006.2(DMD): c.8209C> T (p.Gln2737Ter)SNVPathogenicrs1060502621GRCh38Chr X, 31627681: 31627681
238DMDNM_ 004006.2(DMD): c.9621T> A (p.Cys3207Ter)SNVPathogenicrs1057524037GRCh38Chr X, 31206610: 31206610
239DMDNM_ 004006.2(DMD): c.5647A> T (p.Lys1883Ter)SNVPathogenicrs1060502623GRCh38Chr X, 32343226: 32343226
240DMDNM_ 004006.2(DMD): c.9238_ 9241delACAA (p.Thr3080Leufs)deletionPathogenicrs1060502624GRCh38Chr X, 31261000: 31261003
241DMDNM_ 004006.2(DMD): c.10725delG (p.Met3576Cysfs)deletionPathogenicrs1060502625GRCh38Chr X, 31147347: 31147347
242DMDNM_ 004006.2(DMD): c.10797+1G> ASNVLikely pathogenicrs1060502626GRCh38Chr X, 31147274: 31147274
243DMDNM_ 004006.2(DMD): c.2276T> A (p.Leu759Ter)SNVPathogenicrs1060502627GRCh38Chr X, 32518024: 32518024
244DMDNM_ 004006.2(DMD): c.1653G> A (p.Trp551Ter)SNVPathogenicrs1060502629GRCh38Chr X, 32573796: 32573796
245DMDNM_ 004006.2(DMD): c.10406_ 10407insAA (p.His3469Glnfs)insertionPathogenicrs1060502630GRCh38Chr X, 31169589: 31169590
246DMDNM_ 004006.2(DMD): c.4934_ 4937delAGGA (p.Lys1645Argfs)deletionPathogenicrs1060502632GRCh38Chr X, 32365108: 32365111
247DMDNM_ 004006.2(DMD): c.8914C> T (p.Gln2972Ter)SNVPathogenicrs1060502633GRCh38Chr X, 31478129: 31478129
248DMDNM_ 004006.2(DMD): c.1149+1G> ASNVLikely pathogenicrs1060502634GRCh38Chr X, 32644963: 32644963
249DMDNM_ 004006.2(DMD): c.2076dupA (p.Gln693Thrfs)duplicationPathogenicGRCh38Chr X, 32545251: 32545251
250DMDNM_ 004006.2(DMD): c.2202G> A (p.Trp734Ter)SNVPathogenicrs1060502636GRCh38Chr X, 32518098: 32518098
251DMDNM_ 004006.2(DMD): c.4072-1G> TSNVLikely pathogenicrs1060502637GRCh38Chr X, 32411914: 32411914
252DMDNM_ 004006.2(DMD): c.2665C> T (p.Arg889Ter)SNVPathogenicrs1060502639GRCh38Chr X, 32485057: 32485057
253DMDNM_ 004006.2(DMD): c.7241_ 7243delACCinsGTTT (p.Asn2414Serfs)indelPathogenicGRCh38Chr X, 31820041: 31820043
254DMDNM_ 004006.2(DMD): c.6205delG (p.Val2069Trpfs)deletionPathogenicrs1060502640GRCh38Chr X, 32287614: 32287614
255DMDNM_ 004006.2(DMD): c.6614+2T> CSNVPathogenicrs1060502641GRCh38Chr X, 31968337: 31968337
256DMDNM_ 004006.2(DMD): c.4071+1G> ASNVPathogenicrs1060502643GRCh38Chr X, 32438240: 32438240
257DMDNM_ 004006.2(DMD): c.1061G> A (p.Trp354Ter)SNVPathogenicrs1060502644GRCh38Chr X, 32645052: 32645052
258DMDNM_ 004006.2(DMD): c.4858G> T (p.Glu1620Ter)SNVPathogenicrs1060502645GRCh38Chr X, 32365187: 32365187
259DMDNM_ 004006.2(DMD): c.5884_ 5891delAAATTTGC (p.Lys1962Serfs)deletionPathogenicrs1060502646GRCh38Chr X, 32342131: 32342138
260DMDNM_ 004006.2(DMD): c.5110G> T (p.Glu1704Ter)SNVPathogenicrs765445866GRCh38Chr X, 32364626: 32364626
261DMDNM_ 004006.2(DMD): c.5100_ 5101delAC (p.Leu1701Phefs)deletionPathogenicrs1060502647GRCh38Chr X, 32364635: 32364636
262DMDNM_ 004006.2(DMD): c.9434delT (p.Met3145Argfs)deletionPathogenicrs1060502648GRCh38Chr X, 31209627: 31209627
263DMDNM_ 004006.2(DMD): c.153dupA (p.Asp52Argfs)duplicationPathogenicGRCh38Chr X, 32849761: 32849761
264DMDNM_ 004006.2(DMD): c.238dupG (p.Ala80Glyfs)duplicationPathogenicGRCh38Chr X, 32844809: 32844809
265DMDNM_ 004006.2(DMD): c.40_ 41delGA (p.Glu14Argfs)deletionPathogenicrs1060502652GRCh38Chr X, 33020191: 33020192
266DMDNM_ 004006.2(DMD): c.9650-4_ 9655delGTAGACCTTTdeletionLikely pathogenicrs1060502653GRCh38Chr X, 31204113: 31204122
267DMDNM_ 004006.2(DMD): c.2733dupT (p.Val912Cysfs)duplicationPathogenicGRCh38Chr X, 32484989: 32484989
268DMDNM_ 004006.2(DMD): c.6118-1G> ASNVPathogenicrs1060502656GRCh38Chr X, 32287702: 32287702
269DMDNM_ 004006.2(DMD): c.7068_ 7069delAC (p.Gln2356Hisfs)deletionPathogenicrs1060502659GRCh38Chr X, 31875217: 31875218
270DMDNM_ 004006.2(DMD): c.2077C> T (p.Gln693Ter)SNVPathogenicrs1060502661GRCh38Chr X, 32545250: 32545250
271DMDNC_ 000023.11: g.(?_ 32809493)_ (33211556_ ?)dupduplicationLikely pathogenicGRCh37Chr X, 32827610: 33229673
272DMDNC_ 000023.11: g.(?_ 31729631)_ (31820083_ ?)deldeletionPathogenicGRCh38Chr X, 31729631: 31820083
273DMDNC_ 000023.11: g.(?_ 31478106)_ (31932227_ ?)deldeletionPathogenicGRCh37Chr X, 31496223: 31950344
274DMDNC_ 000023.11: g.(?_ 32644132)_ (32849820_ ?)deldeletionPathogenicGRCh37Chr X, 32662249: 32867937
275DMDNC_ 000023.11: g.(?_ 32545159)_ (32849820_ ?)deldeletionPathogenicGRCh38Chr X, 32545159: 32849820
276DMDNC_ 000023.11: g.(?_ 32595757)_ (32849820_ ?)deldeletionPathogenicGRCh37Chr X, 32613874: 32867937
277DMDNC_ 000023.11: g.(?_ 31773960)_ (31774192_ ?)deldeletionPathogenicGRCh37Chr X, 31792077: 31792309
278DMDNC_ 000023.11: g.(?_ 31968339)_ (31968514_ ?)deldeletionPathogenicGRCh37Chr X, 31986456: 31986631
279DMDNC_ 000023.11: g.(?_ 31729631)_ (31729748_ ?)deldeletionPathogenicGRCh37Chr X, 31747748: 31747865
280DMDNC_ 000023.11: g.(?_ 31496788)_ (31875373_ ?)deldeletionPathogenicGRCh37Chr X, 31514905: 31893490
281DMDNC_ 000023.11: g.(?_ 32287529)_ (32310276_ ?)dupduplicationPathogenicGRCh37Chr X, 32305646: 32328393
282DMDNC_ 000023.11: g.(?_ 31627673)_ (31658144_ ?)deldeletionLikely pathogenicGRCh38Chr X, 31627673: 31658144
283DMDNC_ 000023.11: g.(?_ 31657990)_ (31820083_ ?)deldeletionPathogenicGRCh38Chr X, 31657990: 31820083
284DMDNC_ 000023.11: g.(?_ 32844783)_ (32849820_ ?)dupduplicationPathogenicGRCh37Chr X, 32862900: 32867937
285DMDNC_ 000023.11: g.(?_ 32463439)_ (32491518_ ?)dupduplicationPathogenicGRCh37Chr X, 32481556: 32509635
286DMDNC_ 000023.11: g.(?_ 32545159)_ (32545334_ ?)dupduplicationLikely pathogenicGRCh38Chr X, 32545159: 32545334
287DMDNC_ 000023.11: g.(?_ 31819975)_ (31836819_ ?)deldeletionPathogenicGRCh37Chr X, 31838092: 31854936
288DMDNC_ 000023.11: g.(?_ 31323598)_ (31479103_ ?)deldeletionPathogenicGRCh37Chr X, 31341715: 31497220
289DMDNC_ 000023.11: g.(?_ 31119228)_ (33211556_ ?)deldeletionPathogenicGRCh38Chr X, 31119228: 33211556
290DMDNC_ 000023.11: g.(?_ 31260955)_ (31261016_ ?)deldeletionPathogenicGRCh38Chr X, 31260955: 31261016
291DMDNC_ 000023.11: g.(?_ 32287529)_ (32310276_ ?)deldeletionPathogenicGRCh37Chr X, 32305646: 32328393
292DMDNC_ 000023.11: g.(?_ 32823295)_ (32823387_ ?)dupduplicationLikely pathogenicGRCh37Chr X, 32841412: 32841504
293DMDNC_ 000023.11: g.(?_ 32809493)_ (33020200_ ?)dupduplicationPathogenicGRCh37Chr X, 32827610: 33038317
294DMDNC_ 000023.11: g.(?_ 32438241)_ (32491518_ ?)deldeletionPathogenicGRCh37Chr X, 32456358: 32509635
295DMDNC_ 000023.11: g.(?_ 31444481)_ (31496944_ ?)deldeletionPathogenicGRCh37Chr X, 31462598: 31515061
296DMDNC_ 000023.11: g.(?_ 32816468)_ (32844860_ ?)dupduplicationLikely pathogenicGRCh37Chr X, 32834585: 32862977
297DMDNC_ 000023.11: g.(?_ 32573530)_ (32699293_ ?)deldeletionPathogenicGRCh37Chr X, 32591647: 32717410
298DMDNC_ 000023.11: g.(?_ 31657990)_ (31836819_ ?)deldeletionPathogenicGRCh37Chr X, 31676107: 31854936
299DMDNC_ 000023.11: g.(?_ 32565702)_ (32614453_ ?)dupduplicationPathogenicGRCh38Chr X, 32565702: 32614453
300DMDNM_ 004006.2(DMD): c.10033C> T (p.Arg3345Ter)SNVPathogenicrs398123827GRCh37Chr X, 31198540: 31198540
301DMDNM_ 004006.2(DMD): c.10086+1G> ASNVPathogenicrs398123828GRCh37Chr X, 31198486: 31198486
302DMDNM_ 004006.2(DMD): c.1012G> T (p.Glu338Ter)SNVPathogenicrs398123830GRCh37Chr X, 32663218: 32663218
303DMDNM_ 004006.2(DMD): c.10171C> T (p.Arg3391Ter)SNVPathogenicrs398123832GRCh37Chr X, 31196838: 31196838
304DMDNM_ 004019.2(DMD): c.1020G> A (p.Thr340=)SNVPathogenicrs398123834GRCh37Chr X, 31196785: 31196785
305DMDNM_ 004006.2(DMD): c.10258dupT (p.Ser3420Phefs)duplicationPathogenicrs398123835GRCh37Chr X, 31196053: 31196053
306DMDNM_ 004006.2(DMD): c.10446_ 10447delCT (p.Ser3483Profs)deletionPathogenicrs398123837GRCh37Chr X, 31187666: 31187667
307DMDNM_ 004006.2(DMD): c.10454delT (p.Leu3485Argfs)deletionPathogenicrs398123839GRCh37Chr X, 31187659: 31187659
308DMDNM_ 004006.2(DMD): c.1048G> T (p.Glu350Ter)SNVPathogenicrs398123840GRCh37Chr X, 32663182: 32663182
309DMDNM_ 004006.2(DMD): c.10625delC (p.Pro3542Leufs)deletionPathogenicrs398123844GRCh37Chr X, 31165564: 31165564
310DMDNM_ 004006.2(DMD): c.1261C> T (p.Gln421Ter)SNVPathogenicrs398123852GRCh37Chr X, 32662319: 32662319
311DMDNM_ 004006.2(DMD): c.1306dupG (p.Val436Glyfs)duplicationPathogenicrs398123854GRCh37Chr X, 32662274: 32662274
312DMDNM_ 004006.2(DMD): c.1332-9A> GSNVPathogenicrs72468700GRCh37Chr X, 32632579: 32632579
313DMDNM_ 004006.2(DMD): c.1341_ 1342dupAG (p.Val448Glufs)duplicationPathogenicrs398123856GRCh37Chr X, 32632560: 32632561
314DMDNM_ 004006.2(DMD): c.1371delG (p.Glu459Serfs)deletionPathogenicrs398123857GRCh37Chr X, 32632531: 32632531
315DMDNM_ 004006.2(DMD): c.137_ 138dupAT (p.Gly47Metfs)duplicationPathogenicrs398123859GRCh37Chr X, 32867893: 32867894
316DMDNM_ 004006.2(DMD): c.1465C> T (p.Gln489Ter)SNVPathogenicrs398123861GRCh37Chr X, 32632437: 32632437
317DMDNM_ 004006.2(DMD): c.1482+1G> TSNVPathogenicrs398123862GRCh37Chr X, 32632419: 32632419
318DMDNM_ 004006.2(DMD): c.1529_ 1530delTC (p.Leu510Hisfs)deletionPathogenicrs398123863GRCh37Chr X, 32613946: 32613947
319DMDNM_ 004006.2(DMD): c.1615C> T (p.Arg539Ter)SNVPathogenicrs398123865GRCh37Chr X, 32591951: 32591951
320DMDNM_ 004006.2(DMD): c.1886C> A (p.Ser629Ter)SNVPathogenicrs398123867GRCh37Chr X, 32583925: 32583925
321DMDNM_ 004006.2(DMD): c.1990C> T (p.Gln664Ter)SNVPathogenicrs398123870GRCh37Chr X, 32583821: 32583821
322DMDNM_ 004006.2(DMD): c.2032C> T (p.Gln678Ter)SNVPathogenicrs398123872GRCh37Chr X, 32563412: 32563412
323DMDNM_ 004006.2(DMD): c.2125delC (p.Gln709Lysfs)deletionPathogenicrs398123875GRCh37Chr X, 32563319: 32563319
324DMDNM_ 004006.2(DMD): c.2294_ 2297delCCAT (p.Ala765Glufs)deletionPathogenicrs398123882GRCh37Chr X, 32519955: 32519958
325DMDNM_ 004006.2(DMD): c.2332C> T (p.Gln778Ter)SNVPathogenicrs398123883GRCh37Chr X, 32519920: 32519920
326DMDNM_ 004006.2(DMD): c.2380+1G> CSNVPathogenicrs398123884GRCh37Chr X, 32519871: 32519871
327DMDNM_ 004006.2(DMD): c.2381-1G> TSNVPathogenicrs398123887GRCh37Chr X, 32509636: 32509636
328DMDNM_ 004006.2(DMD): c.2419C> T (p.Gln807Ter)SNVPathogenicrs398123888GRCh37Chr X, 32509597: 32509597
329DMDNM_ 004006.2(DMD): c.2547delT (p.Glu850Lysfs)deletionPathogenicrs398123895GRCh37Chr X, 32509469: 32509469
330DMDNM_ 004006.2(DMD): c.2650C> T (p.Gln884Ter)SNVPathogenicrs398123903GRCh37Chr X, 32503189: 32503189
331DMDNM_ 004006.2(DMD): c.2804-1G> ASNVPathogenicrs398123909GRCh37Chr X, 32490427: 32490427
332DMDNM_ 004006.2(DMD): c.2816T> A (p.Leu939Ter)SNVPathogenicrs398123910GRCh37Chr X, 32490414: 32490414
333DMDNM_ 004006.2(DMD): c.28delT (p.Cys10Valfs)deletionPathogenicrs398123913GRCh37Chr X, 33229402: 33229402
334DMDNM_ 004006.2(DMD): c.31+1G> TSNVPathogenicrs398123923GRCh37Chr X, 33229398: 33229398
335DMDNM_ 004006.2(DMD): c.3151C> T (p.Arg1051Ter)SNVPathogenicrs398123929GRCh37Chr X, 32486626: 32486626
336DMDNM_ 004006.2(DMD): c.3276+1G> ASNVPathogenicrs398123934GRCh37Chr X, 32482702: 32482702
337DMDNM_ 004006.2(DMD): c.3295C> T (p.Gln1099Ter)SNVPathogenicrs398123935GRCh37Chr X, 32481693: 32481693
338DMDNM_ 004006.2(DMD): c.336G> A (p.Trp112Ter)SNVPathogenicrs398123936GRCh37Chr X, 32841433: 32841433
339DMDNM_ 004006.2(DMD): c.3432+1G> ASNVPathogenicrs398123937GRCh37Chr X, 32481555: 32481555
340DMDNM_ 004006.2(DMD): c.3580C> T (p.Gln1194Ter)SNVPathogenicrs398123942GRCh37Chr X, 32472802: 32472802
341DMDNM_ 004006.2(DMD): c.3603+2T> ASNVPathogenicrs146071084GRCh37Chr X, 32472777: 32472777
342DMDNM_ 004006.2(DMD): c.3639dupA (p.Val1214Serfs)duplicationPathogenicrs398123943GRCh37Chr X, 32466720: 32466720
343DMDNM_ 004006.2(DMD): c.3747delG (p.Trp1249Cysfs)deletionPathogenicrs398123945GRCh37Chr X, 32466612: 32466612
344DMDNM_ 004006.2(DMD): c.3779_ 3785delCTTTGGAinsGG (p.Thr1260Argfs)indelPathogenicrs398123946GRCh37Chr X, 32466574: 32466580
345DMDNM_ 004006.2(DMD): c.4117C> T (p.Gln1373Ter)SNVPathogenicrs398123948GRCh37Chr X, 32429985: 32429985
346DMDNM_ 004006.2(DMD): c.412_ 413delAA (p.Lys138Aspfs)deletionPathogenicrs398123949GRCh37Chr X, 32834702: 32834703
347DMDNM_ 004006.2(DMD): c.4375C> T (p.Arg1459Ter)SNVPathogenicrs398123953GRCh37Chr X, 32407761: 32407761
348DMDNM_ 004006.2(DMD): c.4471_ 4472delAA (p.Lys1491Glufs)deletionPathogenicrs398123957GRCh37Chr X, 32407664: 32407665
349DMDNM_ 004006.2(DMD): c.4534_ 4535delCT (p.Leu1512Glufs)deletionPathogenicrs398123961GRCh37Chr X, 32404566: 32404567
350DMDNM_ 004006.2(DMD): c.4545_ 4549delGAAGT (p.Lys1516Terfs)deletionPathogenicrs398123962GRCh37Chr X, 32404552: 32404556
351DMDNM_ 004006.2(DMD): c.4843A> T (p.Lys1615Ter)SNVPathogenicrs398123969GRCh37Chr X, 32398629: 32398629
352DMDNM_ 004006.2(DMD): c.5124_ 5127delGAAA (p.Lys1708Asnfs)deletionPathogenicrs398123979GRCh37Chr X, 32382726: 32382729
353DMDNM_ 004006.2(DMD): c.5287C> T (p.Arg1763Ter)SNVPathogenicrs398123981GRCh37Chr X, 32380943: 32380943
354DMDNM_ 004006.2(DMD): c.5530C> T (p.Arg1844Ter)SNVPathogenicrs1064325GRCh37Chr X, 32364116: 32364116
355DMDNM_ 004006.2(DMD): c.5640T> A (p.Tyr1880Ter)SNVPathogenicrs398123993GRCh37Chr X, 32361350: 32361350
356DMDNM_ 004006.2(DMD): c.5773G> T (p.Glu1925Ter)SNVPathogenicrs398123997GRCh37Chr X, 32360366: 32360366
357DMDNM_ 004006.2(DMD): c.583C> T (p.Arg195Ter)SNVPathogenicrs398123999GRCh37Chr X, 32827676: 32827676
358DMDNM_ 004006.2(DMD): c.5938G> T (p.Glu1980Ter)SNVPathogenicrs398124001GRCh37Chr X, 32328378: 32328378
359DMDNM_ 004006.2(DMD): c.6000T> A (p.Tyr2000Ter)SNVPathogenicrs398124002GRCh37Chr X, 32328316: 32328316
360DMDNM_ 004006.2(DMD): c.6072T> A (p.Cys2024Ter)SNVPathogenicrs373804251GRCh37Chr X, 32328244: 32328244
361DMDNM_ 004006.2(DMD): c.615T> A (p.Tyr205Ter)SNVPathogenicrs398124004GRCh37Chr X, 32827644: 32827644
362DMDNM_ 004006.2(DMD): c.6182delC (p.Ala2061Glufs)deletionPathogenicrs398124005GRCh37Chr X, 32305754: 32305754
363DMDNM_ 004006.2(DMD): c.6391_ 6392delCA (p.Gln2131Asnfs)deletionPathogenicrs398124012GRCh37Chr X, 32235079: 32235080
364DMDNM_ 004006.2(DMD): c.6392_ 6393insCA (p.Gln2131Hisfs)insertionPathogenicrs398124013GRCh37Chr X, 32235078: 32235079
365DMDNM_ 004006.2(DMD): c.649+1G> ASNVPathogenicrs398124032GRCh37Chr X, 32827609: 32827609
366DMDNM_ 004006.2(DMD): c.676_ 678delAAG (p.Lys226del)deletionPathogenicrs398124034GRCh37Chr X, 32717382: 32717384
367DMDNM_ 004006.2(DMD): c.6906G> A (p.Trp2302Ter)SNVPathogenicrs398124036GRCh37Chr X, 31947719: 31947719
368DMDNM_ 004006.2(DMD): c.6986dupA (p.Leu2330Alafs)duplicationPathogenicrs398124040GRCh37Chr X, 31893417: 31893417
369DMDNM_ 004006.2(DMD): c.7189C> T (p.Gln2397Ter)SNVPathogenicrs398124042GRCh37Chr X, 31854846: 31854846
370DMDNM_ 004006.2(DMD): c.7309+1G> ASNVPathogenicrs398124044GRCh37Chr X, 31838091: 31838091
371DMDNM_ 004006.2(DMD): c.7657C> T (p.Arg2553Ter)SNVPathogenicrs398124050GRCh37Chr X, 31747751: 31747751
372DMDNM_ 004006.2(DMD): c.7682G> A (p.Trp2561Ter)SNVPathogenicrs398124052GRCh37Chr X, 31697682: 31697682
373DMDNM_ 004006.2(DMD): c.7683G> A (p.Trp2561Ter)SNVPathogenicrs398124053GRCh37Chr X, 31697681: 31697681
374DMDNM_ 004006.2(DMD): c.7894C> T (p.Gln2632Ter)SNVPathogenicrs398124058GRCh37Chr X, 31676240: 31676240
375DMDNM_ 004006.2(DMD): c.8064_ 8065delTA (p.His2688Glnfs)deletionPathogenicrs398124060GRCh37Chr X, 31645942: 31645943
376DMDNM_ 004006.2(DMD): c.8069T> G (p.Leu2690Ter)SNVPathogenicrs398124061GRCh37Chr X, 31645938: 31645938
377DMDNM_ 004006.2(DMD): c.8374_ 8375delAA (p.Lys2792Valfs)deletionPathogenicrs398124070GRCh37Chr X, 31525413: 31525414
378DMDNM_ 004006.2(DMD): c.8443C> T (p.Gln2815Ter)SNVPathogenicrs398124072GRCh37Chr X, 31515009: 31515009
379DMDNM_ 004006.2(DMD): c.8608C> T (p.Arg2870Ter)SNVPathogenicrs398124074GRCh37Chr X, 31497160: 31497160
380DMDNM_ 004006.2(DMD): c.8652_ 8653delCT (p.Tyr2885Profs)deletionPathogenicrs398124075GRCh37Chr X, 31497115: 31497116
381DMDNM_ 004006.2(DMD): c.8912_ 8913delTC (p.Leu2971Profs)deletionPathogenicrs398124078GRCh37Chr X, 31496247: 31496248
382DMDNM_ 004006.2(DMD): c.9125delA (p.His3042Profs)deletionPathogenicrs398124080GRCh37Chr X, 31366711: 31366711
383DMDNM_ 004006.2(DMD): c.9225-647A> GSNVPathogenicrs398124091GRCh37Chr X, 31279780: 31279780
384DMDNM_ 004006.2(DMD): c.9337C> T (p.Arg3113Ter)SNVPathogenicrs398124092GRCh37Chr X, 31241188: 31241188
385DMDNM_ 004006.2(DMD): c.9361+1G> ASNVPathogenicrs398124094GRCh37Chr X, 31241163: 31241163
386DMDNM_ 004006.2(DMD): c.9361+1G> CSNVPathogenicrs398124094GRCh37Chr X, 31241163: 31241163
387DMDNM_ 004006.2(DMD): c.9564-1G> ASNVPathogenicrs398124096GRCh37Chr X, 31224785: 31224785
388DMDNM_ 004006.2(DMD): c.9650-2A> GSNVPathogenicrs398124100GRCh37Chr X, 31222237: 31222237
389DMDNM_ 004006.2(DMD): c.9862G> T (p.Glu3288Ter)SNVPathogenicrs398124106GRCh37Chr X, 31200967: 31200967

Expression for genes affiliated with Duchenne Muscular Dystrophy

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LifeMap Discovery
Genes differentially expressed in tissues of Duchenne Muscular Dystrophy patients vs. healthy controls: 35 (show all 10)
id Gene Description Tissue Up/Dn Fold Change (log2) P value
1MYH3myosin, heavy chain 3, skeletal muscle, embryonicSkeletal Muscle+5.620.000
2COL1A2collagen, type I, alpha 2Skeletal Muscle+4.060.000
3COL1A1collagen, type I, alpha 1Skeletal Muscle+4.060.000
4COL3A1collagen, type III, alpha 1Skeletal Muscle+3.840.000
5MYH8myosin, heavy chain 8, skeletal muscle, perinatalSkeletal Muscle+3.740.000
6DCLK1doublecortin-like kinase 1Skeletal Muscle+3.560.000
7ASPNasporinSkeletal Muscle+3.170.000
8SPP1secreted phosphoprotein 1Skeletal Muscle+3.170.000
9NNMTnicotinamide N-methyltransferaseSkeletal Muscle+3.030.000
10LYZlysozymeSkeletal Muscle+3.020.000

Search GEO for disease gene expression data for Duchenne Muscular Dystrophy.

Pathways for genes affiliated with Duchenne Muscular Dystrophy

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GO Terms for genes affiliated with Duchenne Muscular Dystrophy

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Cellular components related to Duchenne Muscular Dystrophy according to GeneCards Suite gene sharing:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1costamereGO:004303411.0DAG1, DMD
2contractile ringGO:007093811.0DAG1, UTRN
3filopodium membraneGO:003152710.9DMD, UTRN
4filopodiumGO:003017510.8DAG1, DMD, UTRN
5membrane raftGO:004512110.5CAV3, DAG1, DMD, NOS1
6cell junctionGO:003005410.1DAG1, DMD, DTNA, SNTB1, SNTB2, UTRN
7dystrophin-associated glycoprotein complexGO:001601010.0CAV3, DAG1, DMD, SNTB1, SNTB2, UTRN
8Z discGO:00300189.9CAV3, DMD, NOS1
9sarcolemmaGO:00423839.8CAV3, DAG1, DMD, DTNA, NOS1, SNTB1
10protein complexGO:00432349.7CAV3, DMD, DTNA, NOS1, SNTB1, SNTB2
11synapseGO:00452029.6DAG1, DMD, DTNA, NOS1, SNTB1, SNTB2
12cytoplasmGO:00057378.1AQP4, CAV3, CKM, CMYA5, DAG1, DMD

Biological processes related to Duchenne Muscular Dystrophy according to GeneCards Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1nucleus localizationGO:005164710.7CAV3, DMD
2negative regulation of MAPK cascadeGO:004340910.7CAV3, DAG1
3myoblast fusionGO:000752010.6CAV3, NOS1
4regulation of skeletal muscle contractionGO:001481910.6CAV3, DMD
5regulation of ryanodine-sensitive calcium-release channel activityGO:006031410.6DMD, NOS1
6negative regulation of calcium ion transportGO:005192610.6CAV3, NOS1
7muscle cell cellular homeostasisGO:004671610.6CAV3, DMD, MSTN
8regulation of sodium ion transmembrane transporter activityGO:200064910.6CAV3, UTRN
9regulation of cardiac muscle contractionGO:005511710.6CAV3, NOS1
10regulation of transforming growth factor beta receptor signaling pathwayGO:001701510.5CAV3, LTBP4
11muscle contractionGO:000693610.4CAV3, SNTB1, UTRN
12response to denervation involved in regulation of muscle adaptationGO:001489410.4DAG1, DMD, UTRN
13muscle organ developmentGO:000751710.2CAV3, DMD, ITGA7, MSTN, UTRN
14skeletal muscle tissue regenerationGO:004340310.0DAG1, DMD, MSTN

Molecular functions related to Duchenne Muscular Dystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1dystroglycan bindingGO:000216210.8DAG1, DMD
2nitric-oxide synthase bindingGO:005099810.7CAV3, DMD
3integrin bindingGO:000517810.6DMD, LTBP4, UTRN
4PDZ domain bindingGO:003016510.1DMD, DTNA, SNTB1
5actin bindingGO:000377910.1DAG1, DMD, SNTB1, SNTB2, UTRN
6vinculin bindingGO:001716610.0DAG1, DMD, UTRN

Sources for Duchenne Muscular Dystrophy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet