MCID: DCH001
MIFTS: 76

Duchenne Muscular Dystrophy malady

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

Aliases & Classifications for Duchenne Muscular Dystrophy

About this section
Sources:
49OMIM, 32LifeMap Discovery®, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 65UMLS, 47Novoseek, 24GTR, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Duchenne Muscular Dystrophy:

Name: Duchenne Muscular Dystrophy 49 32 10 11 45 22 12 51 67
Muscular Dystrophy, Duchenne 10 45 36 65
Dmd 45 22 51 67
Muscular Dystrophy Duchenne 47 24
Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type 45
 
Muscular Dystrophy, Classic X-Linked Recessive 22
Progressive Muscular Dystrophy of Childhood 22
Severe Dystrophinopathy, Duchenne Type 51
Pseudohypertrophic Muscular Dystrophy 22
Childhood Muscular Dystrophy 22

Characteristics:

Orphanet epidemiological data:

51
duchenne muscular dystrophy:
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (Europe),1-5/10000 (Europe); Age of onset: Childhood; Age of death: young Adult

HPO:

61
duchenne muscular dystrophy:
Onset and clinical course: childhood onset
Inheritance: x-linked recessive inheritance


Classifications:



External Ids:

OMIM49 310200
Disease Ontology10 DOID:11723
MeSH36 D020388
NCIt42 C75482
Orphanet51 98896
ICD10 via Orphanet28 G71.0
MESH via Orphanet37 D020388
UMLS via Orphanet66 C0013264
MedGen34 C0013264
UMLS65 C0013264

Summaries for Duchenne Muscular Dystrophy

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OMIM:49 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 gastric cancer and becker muscular dystrophy, and has symptoms including arrhythmia, calf muscle pseudohypertrophy and muscular dystrophy. An important gene associated with Duchenne Muscular Dystrophy is DMD (Dystrophin), and among its related pathways are Effects of nitric oxide and Muscular Dystrophies and Dystrophin-Glycoprotein Complex. Affiliated tissues include skeletal muscle, heart and smooth muscle, and related mouse phenotypes are respiratory system and renal/urinary system.

Disease Ontology:10 A muscular dystrophy that has material basis in X-linked disease caused by 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:45 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:67 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:68 Duchenne muscular dystrophy (DMD) is an X-linked recessive form of muscular dystrophy, affecting around... 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 514)
idRelated DiseaseScoreTop Affiliating Genes
1gastric cancer30.6DMD, MB, TNNI3, TNNT2
2becker muscular dystrophy29.0AQP4, BEST1, CAV3, CKM, DAG1, DMD
3dmd-associated dilated cardiomyopathy12.8
4muscular dystrophy, duchenne and becker types12.7
5dmd-related dilated cardiomyopathy12.6
6muscular dystrophy, limb-girdle, type 2c11.5
7hepatitis10.7
8glycerol kinase deficiency10.7
9leukemia10.7
10endotheliitis10.6
11neuronitis10.6
12efemp2-related cutis laxa10.6DMD, UTRN
13mental retardation, x-linked, syndromic, hedera type10.5DMD, GK, OTC
14breast cancer10.5
15prostatitis10.5
16hepatitis c10.5
17chromosome xp21 deletion syndrome10.5
18adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism10.5
19thrombocytopenia, x-linked, with or without dyserythropoietic anemia10.5DMD, GK, OTC
20arthritis10.5
21thyroiditis10.5
22progressive non-fluent aphasia10.5DMD, MB, NOS1
23ischemia10.5
24tuberculosis10.5
25pancreatitis10.5
26sarcoidosis, susceptibility 210.4AQP4, DAG1
27phaeohyphomycosis10.4AQP4, MB
28rheumatoid arthritis10.4
29prostate cancer10.4
30leiomyoma10.4
31adenocarcinoma10.4
32retinitis10.4
33muscular dystrophy, limb-girdle, type ic10.4CAV3, MSTN
34tertiary syphilis10.4DAG1, DMD, MB
35creatine phosphokinase, elevated serum10.4CAV3, MB
36muscular dystrophy, congenital10.4DAG1, DMD, ITGA7, UTRN
37obesity10.4
38lymphoma10.4
39myeloma10.4
40heart disease10.4
41melanoma10.4
42cerebritis10.4
43adenoma10.4
44peritonitis10.4
45influenza10.4
46meningitis10.4
47mcleod syndrome with or without chronic granulomatous disease10.3BEST1, DMD
48obesity due to prohormone convertase i deficiency10.3TNNI3, TNNT2
49x-linked congenital stationary night blindness10.3DMD, GK
50neuroblastoma10.3

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



Diseases related to duchenne muscular dystrophy

Symptoms for Duchenne Muscular Dystrophy

About this section

Symptoms by clinical synopsis from OMIM:

310200

Clinical features from OMIM:

310200

HPO human phenotypes related to Duchenne Muscular Dystrophy:

(show all 16)
id Description Frequency HPO Source Accession
1 arrhythmia HP:0011675
2 calf muscle pseudohypertrophy HP:0003707
3 muscular dystrophy HP:0003560
4 gowers sign HP:0003391
5 hyperlordosis HP:0003307
6 elevated serum creatine phosphokinase HP:0003236
7 respiratory failure HP:0002878
8 hypoventilation HP:0002791
9 scoliosis HP:0002650
10 waddling gait HP:0002515
11 dilated cardiomyopathy HP:0001644
12 congestive heart failure HP:0001635
13 flexion contracture HP:0001371
14 hyporeflexia HP:0001265
15 intellectual disability, mild HP:0001256
16 muscular hypotonia HP:0001252

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 185)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Tadalafilapproved, investigationalPhase 4, Phase 3, Phase 1140171596-29-5110635
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
2
RamiprilapprovedPhase 414487333-19-55362129
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
Carvedilolapproved, investigationalPhase 415372956-09-32585
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
4Neurotransmitter AgentsPhase 4, Phase 3, Phase 214795
5Angiotensin-Converting Enzyme InhibitorsPhase 4, Phase 3, Phase 2634
6Protease InhibitorsPhase 4, Phase 3, Phase 24558
7Contraceptives, OralPhase 4, Phase 3, Phase 23734
8Antihypertensive AgentsPhase 4, Phase 3, Phase 23618
9HIV Protease InhibitorsPhase 4, Phase 3, Phase 24558
10Anti-Bacterial AgentsPhase 4, Phase 19140
11Vasodilator AgentsPhase 4, Phase 3, Phase 1, Phase 22926
12Phosphodiesterase InhibitorsPhase 4, Phase 3, Phase 1, Phase 21062
13Adrenergic AgentsPhase 4, Phase 34204
14Phosphodiesterase 5 InhibitorsPhase 4, Phase 3, Phase 2, Phase 1513
15Antibiotics, AntitubercularPhase 45971
16Adrenergic alpha-1 Receptor AntagonistsPhase 4405
17Adrenergic beta-AntagonistsPhase 4979
18Adrenergic AntagonistsPhase 41253
19Adrenergic alpha-AntagonistsPhase 4586
20
EnalaprilapprovedPhase 311275847-73-35362032, 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
21
PrednisoneapprovedPhase 3, Phase 2126753-03-25865
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
Perrigo Prednisone
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
Rayos
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
22
Lisinoprilapproved, investigationalPhase 2, Phase 311683915-83-75362119
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 10mg
Lisinopril 2.5mg
Lisinopril 20mg
Lisinopril 40mg
Lisinopril 5mg
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
23
BenzocaineapprovedPhase 316841994-09-7, 94-09-72337
Synonyms:
(p-(Ethoxycarbonyl)phenylamine
06952_FLUKA
112909_ALDRICH
112909_SIAL
1333-08-0
20/20 Topical Anesthetic
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
Alcohol Prep Pads
Allegenal-m
Alpha-caine Topical Anesthetic
Amben ethyl ester
Americaine
Anaesthan-syngala
Anaesthesin
Anaesthesinum
Anaesthin
Anbesol Jr
Anbesol Maximum Strength
Anbesol Regular Strength
Anestenka
Anestezin
Anestezin [Russian]
Anesthesin
Anesthesine
Anesthetic
Anesthone
Atopalm Oral Pain Relief
BB_SC-0019
BPBio1_001017
BRD-K75466013-001-05-2
BRN 0638434
BSPBio_000923
BSPBio_001908
Baby Anbesol
Baby Anestenka
Baby Sensigel
Baby Sensigel Night Time Formula
Baby Teething Oral Pain Reliever
Bactimicina For Sore Throat
Bencocaine Topical Anesthetic
Bensokain
Benz O Sthetic
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]
Benzodent
Benzoic acid, 4-amino-, ethyl ester
Benzoic acid, 4-amino-, ethyl ester, hydrochloride
Benzoic acid, amino-, ethyl ester
Benzoic acid, p-amino-, ethyl ester
Boil Ease
Boy Butter Desensitizing Lubricant
Boy Butter Extreme Desensitizing Lubricant
Boy Butter Extreme H2O Desensitizing Lubricant
Brace Relief
Budpak Baby Teething Oral Pain Reliever
Budpak Oral Maximum Strength
C07527
CAS-94-09-7
CHEBI:116735
CHEMBL278172
CID2337
Carmex Cold Sore Treatment External Analgesic
Caswell No. 430A
Cepacol Fizzlers
Cepacol Sensations Hydra
Cepacol Sensations Sore Throat Hydra citrus splash
Cepacol Sensations Warming
Certus Sting Relief Prep Pad
Chloraseptic
Chloraseptic Warming Sore Throat
Colgate Orabase
Comfortcaine Topical Anesthetic
Cvs Fast Acting Baby Teething
Cvs Maximum Strength
Cvs Maximum Strength Boil Relief
Cvs Oral Anesthetic
Cvs Pharmacy Instant Toothache
Cvs Pharmacy Maximum Strength
Cvs Pharmacy Mouth Sore Gel
Cvs Pharmacy Nighttime Oral Pain Relief
D001566
D00552
DB01086
Dental Relief
Dentek Instant Pain Relief Maximum Strength
Dermoplast
Diet Ayds
DivK1c_000932
Dollar General Toothache Relief
Dukal Sting Relief Pad
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
Finafta Baby
Finafta MultiOral
Formate, Benzocaine
Gelato Topical Anesthetic
Good Neighbor Pain Relief
Goodsense Oral Pain Relief
Gps Topical Anesthetic
Gumnumb Topical Anesthetic
HMS1570O05
HMS1920G09
HMS2091M11
HMS502O14
HSDB 7225
Heb Severe Toothache
Herbasoul Male Genital Desensitizer Cream
 
Hurricaine
Hurricaine Topical Anesthetic
Hurricaine Topical Anesthetic Gel
Hurricaine Topical Anesthetic Liquid
Hydrobromide, Benzocaine
Hydrochloride, Benzocaine
I05-0204
IDI1_000932
Identhesin
Insect Bite Relief
Instant Toothache Pain Relief
Intense Cvs Intense Toothache
Iodent Maximum Strength Oral Analgesic
Ismile Topical Anesthetic
Jianze Sting Relief Pads
KBio1_000932
KBio2_000474
KBio2_003042
KBio2_005610
KBio3_001408
KBioGR_000658
KBioSS_000474
Kank-a Mouth Pain
Keloform
Kmart Smart Sense
Kroger Toothache Pain Relief
LS-35847
Leader Oral Analgesic
Little Colds Sore Throat Relief Melt Aways
MLS001331704
MLS002153970
Makesense Junior Pain Relief
Makesense Pain Relief
Male Desensitizer Pleasure Balm
Mandelay Male Genital Desensitizer
Mark 3
Methanesulfonate, Benzocaine
MolPort-000-871-526
Mouth Sore Medication
Mouth Sore Relief Applicator
Mouth Sore Relief Professional Strength
My Fair Baby Instant Pain Relief
NCGC00016352-01
NCGC00094598-01
NCGC00094598-02
NINDS_000932
NSC 122792
NSC 41531
NSC41531
NSC4688
Nene Dente
Norcain
Norcaine
Norcainum
Opahl
Opahl Dye Free
Oprea1_750694
Oprea1_827402
Ora-jel
Orabase-B
Orajel For All Mouth Sores Maximum Strength
Orajel For Cold Sores
Orajel For Toothache Maximum Strength
Orajel Instant Pain Relief Maximum Strength
Orajel Instant Pain Relief Regular Strength
Orajel Instant Relief For Teething Pain
Orajel Instant Relief For Teething Pain Cooling Cucumber
Orajel Instant Relief For Teething Pain Daytime Nighttime Twin Pack
Orajel Instant Relief For Teething Pain Longer Lasting
Orajel Maximum Strength
Orajel Nighttime Instant Relief For Teething Pain Longer Lasting Extra Strength
Orajel Severe Toothache Maximum Strength Fast-Acting Formula
Oral Analgesic Maximum Strength
Oral B Instant Pain Relief
Oral Gel Maximum Strength
Oral Pain Relief Anesthetic Anesthetic
Oral Pain Reliever
Oralabs Cold Sore Treatment
Orthesin
Otocain
Outgro
Pac-dent Top Gel
Pain Relief
Pain Relief Alcohol Swabs
Parathesin
Parathesin (TN)
Parathesine
Physicians Care Sting Relief Pad
Pleasure Balm Kama Sutra
Preboost
Prestwick0_000712
Prestwick1_000712
Prestwick2_000712
Prestwick3_000712
Prestwick_991
Purelife Topical Anesthetic
Quality Choice Maximum Strength Oral Pain Relieving
Red Cross Oral Pain Relief
Rexall Maximum Strength
Rite Aid Baby Care
Rite Aid Liquid Anesthetic Oral Pain Relief
Rite Aid Maximum Strength
Rite Aid Oral Pain Reliever
Rite Aid Professional Strength
SMR000059025
SPBio_000134
SPBio_002844
SPECTRUM1500139
STK043620
Sally Hansen Ouch-relief Numbing Wipes
Sally Hansen Ouch-relief Wax Kit
Sally Hansen Ouch-relief Wax Strip Kit
Sensigel
Severe Oral Pain Reliever
Sheffield Baby Teething Gel
Sheffield Pain Relief
Shunga Male Genital Desensitizer
Slim Mint Gum
Solarcaine
Solu H
Spectrum2_000117
Spectrum3_000314
Spectrum4_000249
Spectrum5_000860
Spectrum_000074
Sting Relief Medicated Pad
Sting Relief Pads
Tanac
Terrasil Boil Pain Relief
Tiger Supply Inc Topical Anesthetic
Top Quality Mfg. Topical Anesthetic
Topcaine
Topcare Maximum Strength
Topical Anesthetic Banana
Topical Anesthetic Bubble Gum
Topical Anesthetic Cherry
Topical Anesthetic Mint
Topical Anesthetic Pina Colada
Topical Anesthetic Raspberry
Topical Anesthetic Strawberry
UNII-U3RSY48JW5
Ultracare Anesthetic Bubble Gum
Ultracare Anesthetic Butter Rum
Ultracare Anesthetic Creme de Menthe
Ultracare Anesthetic Pina Colada
Ultracare Anesthetic Walterberry
WLN: ZR DVO2
Walgreens Baby Teething
Walgreens Intense Toothache
Walgreens Maximum Strength
Walgreens Pain Relieving For Boils
Walgreens Severe Oral Pain Reliever
Walgreens Severe Toothache Relief
Winco Foods Maximum Strength Oral Analgesic
ZINC12358719
Zilactin-b
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
24
MetforminapprovedPhase 3, Phase 2, Phase 11645657-24-9, 1115-70-414219, 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
DMBG
DMGG
Diabefagos
Diabetosan
Diabex
Diaformin
Dianben
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
Meguan
Melbin
Metformin
Metformin (USAN/INN)
Metformin HCL
Metformin Hydrochloride
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
Obimet
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
25
EplerenoneapprovedPhase 389107724-20-9150310, 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
SpironolactoneapprovedPhase 31591952-01-7, 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
27
Nebivololapproved, investigationalPhase 381152520-56-4, 99200-09-671301
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
Nebicard-5
 
Nebilet
Nebilong
Nebipill
Nebivolol
Nebivolol (USAN/INN)
Nebivolol [USAN:INN:BAN]
Nebivolol hydrochloride
Nebivololum
Nebivololum [Latin]
Nebivololum [latin]
Nubeta
PDSP1_000244
PDSP2_000243
PI-21858
R 67555
R-67555
R65,824
UNII-030Y90569U
alpha,Alpha'-(iminobismethylene)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'-(Iminodimethylene)bis(6-fluoro-2-chromanmethanol)
alpha,alpha'-(iminobis(methylene))bis(6-fluoro-3,4-dihydro)-2H-1-benzopyran-2-methanol
28
Creatineapproved, nutraceuticalPhase 2, Phase 311057-00-1586
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
29Immunosuppressive AgentsPhase 3, Phase 110422
30DeflazacortPhase 3, Phase 11214484-47-0
31UbiquinonePhase 2, Phase 392
32VitaminsPhase 2, Phase 33857
33Trace ElementsPhase 2, Phase 33900
34MicronutrientsPhase 2, Phase 33901
35Pharmaceutical SolutionsPhase 3, Phase 2, Phase 17004
36Adrenergic AgonistsPhase 32331
37Immunologic FactorsPhase 3, Phase 2, Phase 118483
38Hypoglycemic AgentsPhase 3, Phase 2, Phase 14503
39Protective AgentsPhase 3, Phase 2, Phase 15651
40idebenonePhase 3, Phase 219
41AntioxidantsPhase 3, Phase 2, Phase 12442
42Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 3, Phase 2, Phase 19988
43HormonesPhase 3, Phase 2, Phase 111748
44Antineoplastic Agents, HormonalPhase 3, Phase 24256
45
EnalaprilatPhase 311276420-72-96917719
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)
NCGC00164593-01
S1657_Selleck
SAM001246684
SBB065733
SMR000466359
Vasotec I.V.
enalprilat hydrate
46Anti-Inflammatory AgentsPhase 3, Phase 2, Phase 18478
47glucocorticoidsPhase 3, Phase 2, Phase 13896
48Hormone AntagonistsPhase 3, Phase 2, Phase 110002
49DiphosphonatesPhase 3381
50
Zoledronic acidPhase 3286118072-93-868740
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
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
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
Zoledronate
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)

Interventional clinical trials:

(show top 50)    (show all 180)
idNameStatusNCT IDPhase
1Tadalafil in Becker Muscular DystrophyCompletedNCT01070511Phase 4
2The Preventive Efficacy of Carvedilol on Cardiac Dysfunction in Duchenne Muscular DystrophyRecruitingNCT00606775Phase 4
3Ramipril Versus Carvedilol in Duchenne and Becker PatientsRecruitingNCT00819845Phase 4
4Stacking Exercises Aid the Decline in FVC and Sick TimeRecruitingNCT01999075Phase 4
5PDE5 Inhibition to Alleviate Functional Muscle Ischemia in Becker Muscular DystrophyActive, not recruitingNCT02207283Phase 4
6High-dose Prednisone in Duchenne Muscular DystrophyCompletedNCT00110669Phase 3
7Phase 2b Study of PTC124 in Duchenne/Becker Muscular Dystrophy (DMD/BMD)CompletedNCT00592553Phase 2, Phase 3
8Phase III Randomized, Double-Blind Study of Prednisone for Duchenne Muscular DystrophyCompletedNCT00004646Phase 3
9Phase III Study of Idebenone in Duchenne Muscular Dystrophy (DMD)CompletedNCT01027884Phase 3
10A Clinical Study to Assess the Efficacy and Safety of GSK2402968 in Subjects With Duchenne Muscular DystrophyCompletedNCT01254019Phase 3
11Creatine and Glutamine in Steroid-Naive Duchenne Muscular DystrophyCompletedNCT00016653Phase 2, Phase 3
12A Multicenter Randomized Placebo-Controlled Double-Blind Study to Assess Efficacy and Safety of Glutamine and Creatine Monohydrate in Duchenne Muscular Dystrophy (DMD)CompletedNCT00018109Phase 3
13Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy - ACE Inhibitor Therapy TrialCompletedNCT02432885Phase 3
14L-citrulline and Metformin in Duchenne's Muscular DystrophyRecruitingNCT01995032Phase 3
15Finding the Optimum Regimen for Duchenne Muscular DystrophyRecruitingNCT01603407Phase 3
16Therapeutic Potential for Aldosterone Inhibition in Duchenne Muscular DystrophyRecruitingNCT02354352Phase 3
17Nebivolol for the Prevention of Left Ventricular Systolic Dysfunction in Patients With Duchenne Muscular DystrophyRecruitingNCT01648634Phase 3
18Confirmatory Study of Eteplirsen in DMD PatientsRecruitingNCT02255552Phase 3
19A Study of the Safety, Tolerability & Efficacy of Long-term Administration of Drisapersen in US & Canadian SubjectsRecruitingNCT01803412Phase 3
20Effects of Sodium Nitrate on Blood Flow in Becker Muscular DystrophyRecruitingNCT02147639Phase 2, Phase 3
21A Research Study of Zoledronic Acid in Children and Adolescents With OsteoporosisRecruitingNCT00799266Phase 3
22Sunphenon Epigallocatechin-Gallate (EGCg) in Duchenne Muscular DystrophyActive, not recruitingNCT01183767Phase 2, Phase 3
23Phase 3 Study of Ataluren in Patients With Nonsense Mutation Duchenne Muscular DystrophyActive, not recruitingNCT01826487Phase 3
24Extension Study of Drisapersen in DMD SubjectsEnrolling by invitationNCT02636686Phase 3
25Study of Ataluren for Previously Treated Patients With nmDBMD in the USEnrolling by invitationNCT01247207Phase 3
26Study of Ataluren for Previously Treated Patients With nmDBMD in Europe, Israel, Australia, and CanadaEnrolling by invitationNCT01557400Phase 3
27Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation DystrophinopathyEnrolling by invitationNCT02090959Phase 3
28Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular DystrophiesEnrolling by invitationNCT01126697Phase 2, Phase 3
29Study of SRP-4045 and SRP-4053 in DMD PatientsNot yet recruitingNCT02500381Phase 3
30Phase 2b Extension Study of Ataluren (PTC124) in Duchenne/Becker Muscular Dystrophy (DMD/BMD)TerminatedNCT00847379Phase 2, Phase 3
31A Study of Tadalafil for Duchenne Muscular DystrophyTerminatedNCT01865084Phase 3
32Open Label Study of GSK2402968 in Subjects With Duchenne Muscular DystrophyTerminatedNCT01480245Phase 3
33CoQ10 and Prednisone in Non-Ambulatory DMDTerminatedNCT00308113Phase 3
34Evaluation of a Mechanical Device During Acute Respiratory Failure in Patients With Neuromuscular DisordersTerminatedNCT00839033Phase 3
35Drisapersen Duchenne Muscular Dystrophy (DMD) Treatment ProtocolWithdrawnNCT01890798Phase 3
36Safety and Efficacy Study of PTC124 in Duchenne Muscular DystrophyCompletedNCT00264888Phase 2
37Safety and Efficacy Study of Antisense Oligonucleotides in Duchenne Muscular DystrophyCompletedNCT00159250Phase 1, Phase 2
38Efficacy and Tolerability of Idebenone in Boys With Cardiac Dysfunction Associated With Duchenne Muscular DystrophyCompletedNCT00654784Phase 2
39CRD007 for the Treatment of Duchenne Muscular Dystrophy, Becker Muscular Dystrophy and Symptomatic CarriersCompletedNCT01540604Phase 2
40Long-term Safety, Tolerability and Efficacy of Idebenone in Duchenne Muscular Dystrophy (DELPHI Extension)CompletedNCT00758225Phase 2
41Efficacy Study of AVI-4658 to Induce Dystrophin Expression in Selected Duchenne Muscular Dystrophy PatientsCompletedNCT01396239Phase 2
42A Clinical Study to Assess Two Doses of GSK2402968 in Subjects With Duchenne Muscular Dystrophy (DMD)CompletedNCT01462292Phase 2
43Effect of Oral Glutamine on Muscle Mass and Function in Duchenne Muscular DystrophyCompletedNCT00296621Phase 2
44Phase I/II Study of PRO044 in Duchenne Muscular Dystrophy (DMD)CompletedNCT01037309Phase 1, Phase 2
45Dose-Ranging Study of AVI-4658 to Induce Dystrophin Expression in Selected Duchenne Muscular Dystrophy (DMD) PatientsCompletedNCT00844597Phase 1, Phase 2
46Pentoxifylline in Duchenne Muscular DystrophyCompletedNCT00102453Phase 1, Phase 2
47Phase II Doubleblind Exploratory Study of GSK2402968 in Ambulant Subjects With Duchenne Muscular DystrophyCompletedNCT01153932Phase 2
48L-citrulline and Metformin in Becker's Muscular DystrophyCompletedNCT02018731Phase 2
49Study of Daily Pentoxifylline as a Rescue Treatment in Duchenne Muscular DystrophyCompletedNCT00243789Phase 1, Phase 2
50An Open-label Pilot Study of Coenzyme Q10 in Steroid-Treated Duchenne Muscular DystrophyCompletedNCT00033189Phase 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 Dystrophy22

Anatomical Context for Duchenne Muscular Dystrophy

About this section

MalaCards organs/tissues related to Duchenne Muscular Dystrophy:

33
Skeletal muscle, Heart, Smooth muscle, Bone, Breast, Liver, B cells

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

Animal Models for Duchenne Muscular Dystrophy or affiliated genes

About this section

MGI Mouse Phenotypes related to Duchenne Muscular Dystrophy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053889.7AQP4, DMD, LTBP4, MB, NOS1, TNNI3
2MP:00053679.7AQP4, DMD, MSTN, NOS1, OTC, SPTB
3MP:00053849.1CAV3, CKM, DAG1, DMD, ITGA7, LTBP4
4MP:00053869.0AQP4, DAG1, DMD, ITGA7, LTBP4, MSTN
5MP:00053698.5CAV3, CKM, DAG1, DMD, ITGA7, LTBP4
6MP:00053768.3AQP4, CAV3, CKM, DAG1, DMD, ITGA7
7MP:00107688.3AQP4, DAG1, DMD, ITGA7, LTBP4, MB
8MP:00053858.2AQP4, CAV3, CKM, DAG1, DMD, ITGA7
9MP:00053788.1AQP4, CKM, DAG1, DMD, ITGA7, LTBP4

Publications for Duchenne Muscular Dystrophy

About this section

Articles related to Duchenne Muscular Dystrophy:

(show top 50)    (show all 821)
idTitleAuthorsYear
1
Macrophage activation syndrome revealing disseminated mycobacterium tuberculosis]. (26815530)
2015
2
Splenic Infarction in Polycythemia Vera: Can the Spleen be Saved? (26731841)
2015
3
Hemoptysis from bronchial varices associated with pulmonary vein stenosis: role of surgical repair. (22997173)
2013
4
Assessment of the right and left ventricular function in patients with cor pulmonale using high-definition CT. (24112156)
2013
5
Contralateral breast cancer after radiotherapy among BRCA1 and BRCA2 mutation carriers: a WECARE study report. (23706288)
2013
6
Septic thrombophlebitis of the superior mesenteric vein: an unusual complication of appendicitis. (23317599)
2013
7
Identification of prognostic and diagnostic biomarkers of glucose intolerance in ApoE3Leiden mice. (22234995)
2012
8
Effects of RS9939609 gene variant in FTO gene on weight loss and cardiovascular risk factors after biliopancreatic diversion surgery. (22311283)
2012
9
Impact of coping styles on post-traumatic stress disorder and depressive symptoms among pregnant women exposed to Hurricane Katrina. (23140063)
2012
10
Early correction of septum JJ deformity in unilateral cleft lip-cleft palate. (22929267)
2012
11
SLAIN2 links microtubule plus end-tracking proteins and controls microtubule growth in interphase. (21646404)
2011
12
The purinergic G protein-coupled receptor 6 inhibits effector T cell activation in allergic pulmonary inflammation. (21724990)
2011
13
Polymorphisms in the adenomatous polyposis coli (APC) gene and advanced colorectal adenoma risk. (20510605)
2010
14
Downstream targets of FOXM1: CEP55 and HELLS are cancer progression markers of head and neck squamous cell carcinoma. (20400365)
2010
15
Association study of polymorphisms in the group III metabotropic glutamate receptor genes, GRM4 and GRM7, with schizophrenia. (19351574)
2009
16
Cytoglobin, the newest member of the globin family, functions as a tumor suppressor gene. (18794132)
2008
17
Protein tyrosine phosphatase PTPN13 negatively regulates Her2/ErbB2 malignant signaling. (17982484)
2008
18
Human hair follicle and interfollicular keratinocyte reactivity to mouse HPV16-transformed cells: an in vitro study. (18575721)
2008
19
DNA repair gene polymorphisms and genetic predisposition to cutaneous melanoma. (17210993)
2007
20
Multifaceted dermal ultrastructural clues for Ehlers-Danlos syndrome with arterial rupture and type I collagen R-to-C substitution. (17890912)
2007
21
Microphthalmia-associated transcription factor gene amplification in metastatic melanoma is a prognostic marker for patient survival, but not a predictive marker for chemosensitivity and chemotherapy response. (17975146)
2007
22
Site-directed mutational analysis of structural interactions of low molecule compounds binding to the N-terminal 8 kDa domain of DNA polymerase beta. (16996474)
2006
23
Coital penile trauma with severe paraphimosis. (15649211)
2005
24
Dopaminergic neurones: much more than dopamine? (16025140)
2005
25
Solitary infantile myofibroma of the orbital bone. (16181295)
2005
26
Natural history of hepatopulmonary syndrome: Impact of liver transplantation. (15828054)
2005
27
1D5 and 6F11: An immunohistochemical comparison of two monoclonal antibodies for the evaluation of estrogen receptor status in primary breast carcinoma. (15842054)
2005
28
p53 codon 72 and MDM2 SNP309 polymorphisms and age of colorectal cancer onset in Lynch syndrome. (16203772)
2005
29
Establishment and comprehensive analysis of a new human transformed follicular lymphoma B cell line, Tat-1. (11840295)
2002
30
The anti-proliferative gene TIS21 is involved in osteoclast differentiation. (12470596)
2002
31
SMAD4 mutations in colorectal cancer probably occur before chromosomal instability, but after divergence of the microsatellite instability pathway. (11481457)
2001
32
Glutamate activates PP125(FAK) through AMPA/kainate receptors in Bergmann glia. (11746393)
2001
33
Complete remission of cryoglobulinemic glomerulonephritis (HCV-positive) after high dose interferon therapy. (10944819)
2000
34
Urocortin in human placenta and maternal plasma. (10422876)
1999
35
Endothelial cell function and thrombosis. (10856973)
1999
36
Use of recombinant poxviruses to stimulate anti-melanoma T cell reactivity. (9524710)
1998
37
Expanding complexity in myotonic dystrophy. (9872056)
1998
38
Mode of action of calcitonin-gene related peptide in trout gill membranes: evidence for a GTP coupling process. (8028716)
1994
39
Reversible renal failure associated with angiotensin-converting enzyme inhibitors in polycystic kidney disease. (1929024)
1991
40
First-trimester maternal serum unconjugated oestriol and alpha-fetoprotein in fetal Down's syndrome. (1717969)
1991
41
True malignant mixed tumor of the submandibular gland. (2160184)
1990
42
Cervical spondylolysis: imaging findings in 12 patients. (2107670)
1990
43
Fatty acid-binding to erythrocyte ghost membranes and transmembrane movement. (2266961)
1990
44
Family of human Na+,K+-ATPase genes. Structure of the putative regulatory region of the alpha+-gene. (2537767)
1989
45
Clear-cell sarcoma of tendons and aponeuroses: a clinicopathologic study. Presentation of six additional cases with review of the literature. (6467162)
1984
46
Coffin-Siris syndrome. (717300)
1978
47
Erysipeloid. (13430034)
1957
48
49
50

Variations for Duchenne Muscular Dystrophy

About this section

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

67
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 248)
id Gene Variation Type Significance SNP ID Assembly Location
1DMDNM_004006.2(DMD): c.3469G> T (p.Glu1157Ter)single nucleotide variantPathogenicrs128625226GRCh37Chr X, 32472913: 32472913
2DMDNM_004006.2(DMD): c.2791G> T (p.Glu931Ter)single nucleotide variantPathogenicrs128625227GRCh37Chr X, 32503048: 32503048
3DMDNM_004006.2(DMD): c.5551C> T (p.Gln1851Ter)single nucleotide variantPathogenicrs128625228GRCh37Chr X, 32364095: 32364095
4DMDNM_004006.2(DMD): c.8944C> T (p.Arg2982Ter)single nucleotide variantPathogenicrs128625229GRCh37Chr X, 31462738: 31462738
5DMDDMD, IVS68, T-A, +2single nucleotide variantPathogenic
6DMDNM_004006.2(DMD): c.10108C> T (p.Arg3370Ter)single nucleotide variantPathogenicrs104894787GRCh37Chr 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)single nucleotide variantPathogenicrs128625230GRCh37Chr X, 31893448: 31893448
14DMDNM_004006.2(DMD): c.253C> T (p.Gln85Ter)single nucleotide variantPathogenicrs128626234GRCh37Chr X, 32862911: 32862911
15DMDNM_004006.2(DMD): c.2302C> T (p.Arg768Ter)single nucleotide variantPathogenicrs201366610GRCh37Chr X, 32519950: 32519950
16DMDDMD, 1-BP DEL, 2568CdeletionPathogenic
17DMDNM_004006.2(DMD): c.2314G> T (p.Glu772Ter)single nucleotide variantPathogenicrs267606770GRCh37Chr X, 32519938: 32519938
18DMDNM_004006.2(DMD): c.433C> T (p.Arg145Ter)single nucleotide variantPathogenicrs128626235GRCh37Chr X, 32834682: 32834682
19DMDNM_004006.2(DMD): c.161T> G (p.Leu54Arg)single nucleotide variantPathogenicrs128626231GRCh37Chr X, 32867870: 32867870
20DMDDMD, IVS26, T-G, +2single nucleotide variantPathogenic
21DMDDMD, 1-BP DEL, 724CdeletionPathogenic
22DMDNM_004006.2(DMD): c.2017C> T (p.Gln673Ter)single nucleotide variantPathogenicrs128626232GRCh37Chr X, 32563427: 32563427
23DMDDMD, 1-BP DEL, 10334C AND IVS69, G-T, +1deletionPathogenic
24DMDNM_004006.2(DMD): c.178C> T (p.Gln60Ter)single nucleotide variantPathogenicrs128626233GRCh37Chr X, 32867853: 32867853
25DMDDMD, 1-BP INS, 402AinsertionPathogenic
26DMDNM_000109.3(DMD): c.700C> T (p.Gln234Ter)single nucleotide variantPathogenicrs128626238GRCh37Chr X, 32717336: 32717336
27DMDNM_004006.2(DMD): c.748G> T (p.Glu250Ter)single nucleotide variantPathogenicrs128626239GRCh37Chr X, 32717312: 32717312
28DMDDMD, 11-BP DEL, NT989deletionPathogenic
29DMDDMD, 1-BP INS, NT1554insertionPathogenic
30DMDNM_004006.2(DMD): c.1489C> T (p.Gln497Ter)single nucleotide variantPathogenicrs128626241GRCh37Chr X, 32613987: 32613987
31DMDNM_004006.2(DMD): c.1952G> A (p.Trp651Ter)single nucleotide variantPathogenicrs128626242GRCh37Chr X, 32583859: 32583859
32DMDNM_004006.2(DMD): c.2308A> T (p.Lys770Ter)single nucleotide variantPathogenicrs128626243GRCh37Chr X, 32519944: 32519944
33DMDNM_004006.2(DMD): c.2317A> G (p.Lys773Glu)single nucleotide variantPathogenicrs128626244GRCh37Chr X, 32519935: 32519935
34DMDDMD, 52-BP DELdeletionPathogenic
35DMDDMD, 1-BP INS, NT2928insertionPathogenic
36DMDNM_004006.2(DMD): c.3121C> T (p.Gln1041Ter)single nucleotide variantPathogenicrs128626245GRCh37Chr X, 32486656: 32486656
37DMDNM_004006.2(DMD): c.3188G> A (p.Trp1063Ter)single nucleotide variantPathogenicrs128626246GRCh37Chr X, 32482791: 32482791
38DMDNM_004006.2(DMD): c.4213C> T (p.Gln1405Ter)single nucleotide variantPathogenicrs128626247GRCh37Chr X, 32429889: 32429889
39DMDNM_004006.2(DMD): c.4414C> T (p.Gln1472Ter)single nucleotide variantPathogenicrs128626248GRCh37Chr X, 32407722: 32407722
40DMDNM_004006.2(DMD): c.5899C> T (p.Arg1967Ter)single nucleotide variantPathogenicrs128626249GRCh37Chr X, 32360240: 32360240
41DMDDMD, 1-BP DEL, 6408CdeletionPathogenic
42DMDNM_004006.2(DMD): c.6292C> T (p.Arg2098Ter)single nucleotide variantPathogenicrs128626250GRCh37Chr X, 32235179: 32235179
43DMDNM_004006.2(DMD): c.6373C> T (p.Gln2125Ter)single nucleotide variantPathogenicrs128626251GRCh37Chr X, 32235098: 32235098
44DMDDMD, 17-BP DEL, NT6982deletionPathogenic
45DMDNM_004006.2(DMD): c.6790C> T (p.Gln2264Ter)single nucleotide variantPathogenicrs128626252GRCh37Chr X, 31947835: 31947835
46DMDDMD, 1-BP INS, 7188AinsertionPathogenic
47DMDDMD, IVS47, G-A, +1, EX48DELdeletionPathogenic
48DMDNM_004006.2(DMD): c.7402G> T (p.Glu2468Ter)single nucleotide variantPathogenicrs128626253GRCh37Chr X, 31792217: 31792217
49DMDNM_004006.2(DMD): c.8729A> T (p.Glu2910Val)single nucleotide variantPathogenicrs41305353GRCh37Chr X, 31496431: 31496431
50DMDNM_004006.2(DMD): c.8734A> G (p.Asn2912Asp)single nucleotide variantPathogenicrs1800278GRCh37Chr X, 31496426: 31496426
51DMDNM_004006.2(DMD): c.9197C> A (p.Ser3066Ter)single nucleotide variantPathogenicrs128626254GRCh37Chr X, 31341742: 31341742
52DMDDMD, 4-BP DEL, NT9679deletionPathogenic
53DMDDMD, IVS65, G-A, +1single nucleotide variantPathogenic
54DMDNM_004006.2(DMD): c.10141C> T (p.Arg3381Ter)single nucleotide variantPathogenicrs104894790GRCh37Chr X, 31196868: 31196868
55DMDDMD, IVS70, G-T, +5single nucleotide variantPathogenic
56DMDDMD, 8-BP DEL, 1-BP INS, NT10692indelPathogenic
57DMDNM_004006.2(DMD): c.9568C> T (p.Arg3190Ter)single nucleotide variantPathogenicrs104894797GRCh37Chr X, 31224780: 31224780
58DMDNM_004006.2(DMD): c.3940C> T (p.Arg1314Ter)single nucleotide variantPathogenicrs5030730GRCh37Chr X, 32456489: 32456489
59DMDDMD, 1-BP DEL, 377AdeletionPathogenic
60DMDNM_004006.2(DMD): c.8713C> T (p.Arg2905Ter)single nucleotide variantPathogenicrs128627256GRCh37Chr X, 31496447: 31496447
61DMDNM_004006.2(DMD): c.5985T> G (p.Tyr1995Ter)single nucleotide variantPathogenicrs128627257GRCh37Chr X, 32328331: 32328331
62DMDNM_004006.2(DMD): c.1812+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs373286166GRCh37Chr X, 32591646: 32591646
63DMDNM_004006.2(DMD): c.9164-1G> Csingle nucleotide variantPathogenicrs398124082GRCh37Chr X, 31341776: 31341776
64DMDNM_004006.2(DMD): c.8680G> T (p.Glu2894Ter)single nucleotide variantPathogenicrs727503802GRCh37Chr X, 31496480: 31496480
65DMDNM_004006.2(DMD): c.5363C> G (p.Ser1788Ter)single nucleotide variantPathogenicrs199774535GRCh37Chr X, 32366608: 32366608
66DMDNM_004006.2(DMD): c.4806A> T (p.Gly1602=)single nucleotide variantPathogenicrs727503830GRCh37Chr X, 32398666: 32398666
67DMDNM_004006.2(DMD): c.3532G> T (p.Glu1178Ter)single nucleotide variantPathogenicrs727503836GRCh37Chr X, 32472850: 32472850
68DMDNM_004006.2(DMD): c.2956C> T (p.Gln986Ter)single nucleotide variantPathogenicrs727503844GRCh37Chr X, 32486821: 32486821
69DMDNM_004006.2(DMD): c.2755A> T (p.Lys919Ter)single nucleotide variantPathogenicrs727503850GRCh37Chr X, 32503084: 32503084
70DMDNM_004006.2(DMD): c.2484T> G (p.Tyr828Ter)single nucleotide variantPathogenicrs727503858GRCh37Chr X, 32509532: 32509532
71DMDNM_004006.2(DMD): c.883C> T (p.Arg295Ter)single nucleotide variantPathogenicrs727503864GRCh37Chr X, 32716064: 32716064
72DMDNM_004006.2(DMD): c.14_15delAAinsT (p.Glu5Valfs)indelPathogenicrs796065325GRCh37Chr X, 33229415: 33229416
73DMDNM_004006.2(DMD): c.1093C> T (p.Gln365Ter)single nucleotide variantPathogenicrs794726993GRCh37Chr X, 32663137: 32663137
74DMDNM_004006.2(DMD): c.1070delC (p.Ser357Leufs)deletionPathogenicrs794726994GRCh37Chr X, 32663160: 32663160
75DMDNM_004006.2(DMD): c.1286C> G (p.Ser429Ter)single nucleotide variantPathogenicrs398123853GRCh37Chr X, 32662294: 32662294
76DMDNM_004006.2(DMD): c.1150-2A> Gsingle nucleotide variantPathogenicrs794727030GRCh37Chr X, 32662432: 32662432
77DMDNM_004006.2(DMD): c.1533_1536delTCAC (p.His512Trpfs)deletionPathogenicrs794727097GRCh37Chr X, 32613940: 32613943
78DMDNM_004006.2(DMD): c.1704+1G> Asingle nucleotide variantPathogenicrs794727123GRCh37Chr X, 32591861: 32591861
79DMDNM_004006.2(DMD): c.1912C> T (p.Gln638Ter)single nucleotide variantPathogenicrs794727170GRCh37Chr X, 32583899: 32583899
80DMDNM_004006.2(DMD): c.2601_2602delAA (p.Gln869Valfs)deletionPathogenicrs794727322GRCh37Chr X, 32509414: 32509415
81DMDNM_004006.2(DMD): c.2479G> T (p.Glu827Ter)single nucleotide variantPathogenicrs794727323GRCh37Chr X, 32509537: 32509537
82DMDNM_004006.2(DMD): c.2803+1G> Csingle nucleotide variantPathogenicrs398123908GRCh37Chr X, 32503035: 32503035
83DMDNM_004006.2(DMD): c.2804-2A> Tsingle nucleotide variantPathogenicrs794727357GRCh37Chr X, 32490428: 32490428
84DMDNM_004006.2(DMD): c.2815_2816delTT (p.Leu939Alafs)deletionPathogenicrs794727358GRCh38Chr X, 32472297: 32472298
85DMDNM_004006.2(DMD): c.2933_2934delGA (p.Arg978Thrfs)deletionPathogenicrs794727359GRCh37Chr X, 32490296: 32490297
86DMDNM_004006.2(DMD): c.3497_3500delTATC (p.Leu1166Glnfs)deletionPathogenicrs794727421GRCh37Chr X, 32472882: 32472885
87DMDNM_004006.2(DMD): c.3535G> T (p.Glu1179Ter)single nucleotide variantPathogenicrs794727422GRCh37Chr X, 32472847: 32472847
88DMDNM_004006.2(DMD): c.3838A> T (p.Lys1280Ter)single nucleotide variantPathogenicrs794727463GRCh37Chr X, 32459380: 32459380
89DMDNM_004006.2(DMD): c.133C> T (p.Gln45Ter)single nucleotide variantPathogenicrs794727499GRCh37Chr X, 32867898: 32867898
90DMDNM_004006.2(DMD): c.4315A> T (p.Arg1439Ter)single nucleotide variantPathogenicrs794727550GRCh37Chr X, 32408217: 32408217
91DMDNM_004006.2(DMD): c.4523delT (p.Leu1508Cysfs)deletionPathogenicrs794727567GRCh37Chr X, 32404578: 32404578
92DMDNM_004006.2(DMD): c.4675-2A> Gsingle nucleotide variantPathogenicrs794727575GRCh37Chr X, 32398799: 32398799
93DMDNM_004006.2(DMD): c.5697delA (p.Lys1899Asnfs)deletionPathogenicrs794727661GRCh38Chr X, 32343176: 32343176
94DMDNM_004006.2(DMD): c.5868G> A (p.Trp1956Ter)single nucleotide variantPathogenicrs794727666GRCh37Chr X, 32360271: 32360271
95DMDNM_004006.2(DMD): c.6238delC (p.Gln2080Serfs)deletionPathogenicrs794727672GRCh37Chr X, 32305698: 32305698
96DMDNM_004006.2(DMD): c.6673_6674insGTTT (p.Leu2225Cysfs)insertionPathogenicrs797044743GRCh37Chr X, 31950285: 31950286
97DMDNM_004006.2(DMD): c.6982A> T (p.Lys2328Ter)single nucleotide variantPathogenicrs754896795GRCh38Chr X, 31875304: 31875304
98DMDNM_004006.2(DMD): c.291dupT (p.Asp98Terfs)duplicationPathogenicrs797044756GRCh38Chr X, 32823361: 32823361
99DMDNM_004006.2(DMD): c.7247dupT (p.Leu2416Phefs)duplicationPathogenicrs797044764GRCh37Chr X, 31838154: 31838154
100DMDNM_004006.2(DMD): c.7295_7296delCC (p.Thr2432Asnfs)deletionPathogenicrs794727746GRCh37Chr X, 31838105: 31838106
101DMDNM_004006.2(DMD): c.7444delC (p.Thr2483Profs)deletionPathogenicrs794727749GRCh37Chr X, 31792175: 31792175
102DMDNM_004006.2(DMD): c.8184delC (p.Lys2729Argfs)deletionPathogenicrs794727763GRCh37Chr X, 31645823: 31645823
103DMDNM_004006.2(DMD): c.8656C> T (p.Gln2886Ter)single nucleotide variantPathogenicrs201361100GRCh37Chr X, 31497112: 31497112
104DMDNM_004006.2(DMD): c.8669-2A> Csingle nucleotide variantPathogenicrs794727770GRCh37Chr X, 31496493: 31496493
105DMDNM_004006.2(DMD): c.415_428delATTCTCCTGAGCTG (p.Ile139Glyfs)deletionPathogenicrs794727795GRCh37Chr X, 32834687: 32834700
106DMDNM_004006.2(DMD): c.9216C> G (p.Tyr3072Ter)single nucleotide variantPathogenicrs794727820GRCh37Chr X, 31341723: 31341723
107DMDNM_004006.2(DMD): c.9978C> G (p.Tyr3326Ter)single nucleotide variantPathogenicrs794727832GRCh37Chr X, 31198595: 31198595
108DMDNM_004006.2(DMD): c.565C> T (p.Gln189Ter)single nucleotide variantPathogenicrs794727861GRCh37Chr X, 32827694: 32827694
109DMDNM_004006.2(DMD): c.547dupT (p.Trp183Leufs)duplicationPathogenicrs796065333GRCh38Chr X, 32809595: 32809595
110DMDNM_004006.2(DMD): c.627delA (p.Ile209Metfs)deletionPathogenicrs794727862GRCh37Chr X, 32827632: 32827632
111DMDNM_004006.2(DMD): c.572C> G (p.Ser191Ter)single nucleotide variantPathogenicrs794727863GRCh37Chr X, 32827687: 32827687
112DMDNM_004006.2(DMD): c.10554-2A> Gsingle nucleotide variantPathogenicrs794727890GRCh37Chr X, 31165637: 31165637
113DMDNM_004006.2(DMD): c.6614+3310G> Tsingle nucleotide variantLikely pathogenicrs797045526GRCh38Chr X, 31965029: 31965029
114DMDNM_004006.2(DMD): c.4000G> T (p.Gly1334Ter)single nucleotide variantLikely pathogenicrs146880270GRCh38Chr X, 32438312: 32438312
115DMDNM_004006.2(DMD): c.10133delA (p.Asn3378Thrfs)deletionPathogenicrs863224975GRCh37Chr X, 31196876: 31196876
116DMDNM_004006.2(DMD): c.10223+1G> Csingle nucleotide variantPathogenicrs398123834GRCh37Chr X, 31196785: 31196785
117DMDNM_004006.2(DMD): c.10412T> G (p.Leu3471Ter)single nucleotide variantPathogenicrs863224976GRCh38Chr X, 31169584: 31169584
118DMDNM_004006.2(DMD): c.10504G> T (p.Glu3502Ter)single nucleotide variantPathogenicrs863224977GRCh37Chr X, 31187609: 31187609
119DMDNM_004006.2(DMD): c.1150-2deldeletionPathogenicrs863224978GRCh38Chr X, 32644315: 32644315
120DMDNM_004006.2(DMD): c.1324C> T (p.Gln442Ter)single nucleotide variantPathogenicrs863224979GRCh38Chr X, 32644139: 32644139
121DMDNM_004006.2(DMD): c.1331+1G> Asingle nucleotide variantPathogenicrs863224980GRCh38Chr X, 32644131: 32644131
122DMDNM_004006.2(DMD): c.1388G> A (p.Trp463Ter)single nucleotide variantPathogenicrs863224981GRCh38Chr X, 32614397: 32614397
123DMDNM_004006.2(DMD): c.1483-1G> Csingle nucleotide variantPathogenicrs863224982GRCh37Chr X, 32613994: 32613994
124DMDNM_004006.2(DMD): c.1663C> T (p.Gln555Ter)single nucleotide variantPathogenicrs863224983GRCh38Chr X, 32573786: 32573786
125DMDNM_004006.2(DMD): c.1683G> A (p.Trp561Ter)single nucleotide variantPathogenicrs863224984GRCh37Chr X, 32591883: 32591883
126DMDNM_004006.2(DMD): c.2215G> T (p.Glu739Ter)single nucleotide variantPathogenicrs863224985GRCh38Chr X, 32518085: 32518085
127DMDNM_004006.2(DMD): c.2368C> T (p.Gln790Ter)single nucleotide variantPathogenicrs762860653GRCh38Chr X, 32501767: 32501767
128DMDNM_004006.2(DMD): c.2407C> T (p.Gln803Ter)single nucleotide variantPathogenicrs863224986GRCh38Chr X, 32491492: 32491492
129DMDNM_004006.2(DMD): c.2611A> T (p.Lys871Ter)single nucleotide variantPathogenicrs863224987GRCh38Chr X, 32491288: 32491288
130DMDNM_004006.2(DMD): c.2623-3C> Gsingle nucleotide variantPathogenicrs863224988GRCh37Chr X, 32503219: 32503219
131DMDNM_004006.2(DMD): c.265-2A> Gsingle nucleotide variantPathogenicrs863224989GRCh38Chr X, 32823389: 32823389
132DMDNM_004006.2(DMD): c.2797C> T (p.Gln933Ter)single nucleotide variantPathogenicrs756949497GRCh38Chr X, 32484925: 32484925
133DMDNM_004006.2(DMD): c.280delA (p.Ile94Leufs)deletionPathogenicrs863224990GRCh37Chr X, 32841489: 32841489
134DMDNM_004006.2(DMD): c.2804-2A> Csingle nucleotide variantPathogenicrs794727357GRCh37Chr X, 32490428: 32490428
135DMDNM_004006.2(DMD): c.282dupT (p.Gly95Trpfs)duplicationPathogenicrs863224991GRCh38Chr X, 32823370: 32823370
136DMDNM_004006.2(DMD): c.2991C> G (p.Tyr997Ter)single nucleotide variantPathogenicrs863224992GRCh38Chr X, 32468669: 32468669
137DMDNM_004006.2(DMD): c.3427C> T (p.Gln1143Ter)single nucleotide variantPathogenicrs863224993GRCh37Chr X, 32481561: 32481561
138DMDNM_004006.2(DMD): c.3433-5_3434deldeletionPathogenicrs863224994GRCh38Chr X, 32454831: 32454837
139DMDNM_004006.2(DMD): c.355C> T (p.Gln119Ter)single nucleotide variantPathogenicrs863224995GRCh38Chr X, 32823297: 32823297
140DMDNM_004006.2(DMD): c.358-2A> Gsingle nucleotide variantPathogenicrs863224996GRCh38Chr X, 32816642: 32816642
141DMDNM_004006.2(DMD): c.4240C> T (p.Gln1414Ter)single nucleotide variantPathogenicrs863224997GRCh37Chr X, 32408292: 32408292
142DMDNM_004006.2(DMD): c.4606G> T (p.Glu1536Ter)single nucleotide variantPathogenicrs863224998GRCh37Chr X, 32404495: 32404495
143DMDNM_004006.2(DMD): c.4729C> T (p.Arg1577Ter)single nucleotide variantPathogenicrs863224999GRCh37Chr X, 32398743: 32398743
144DMDNM_004006.2(DMD): c.4918delA (p.Thr1640Glnfs)deletionPathogenicrs863225000GRCh37Chr X, 32383244: 32383244
145DMDNM_004006.2(DMD): c.5131C> T (p.Gln1711Ter)single nucleotide variantPathogenicrs863225001GRCh38Chr X, 32364605: 32364605
146DMDNM_004006.2(DMD): c.5350G> T (p.Glu1784Ter)single nucleotide variantPathogenicrs777864641GRCh38Chr X, 32348504: 32348504
147DMDNM_004006.2(DMD): c.5461G> T (p.Glu1821Ter)single nucleotide variantPathogenicrs863225002GRCh38Chr X, 32346068: 32346068
148DMDNM_004006.2(DMD): c.5602_5605delAGAA (p.Arg1868Glufs)deletionPathogenicrs863225003GRCh38Chr X, 32343268: 32343271
149DMDNM_004006.2(DMD): c.5641C> T (p.Gln1881Ter)single nucleotide variantPathogenicrs863225004GRCh38Chr X, 32343232: 32343232
150DMDNM_004006.2(DMD): c.5917C> T (p.Gln1973Ter)single nucleotide variantPathogenicrs863225005GRCh37Chr X, 32360222: 32360222
151DMDNM_004006.2(DMD): c.6128_6131delATAG (p.Asp2043Valfs)deletionPathogenicrs863225006GRCh38Chr X, 32287688: 32287691
152DMDNM_004006.2(DMD): c.6611dupA (p.Arg2205Glufs)duplicationPathogenicrs863225007GRCh38Chr X, 31968342: 31968342
153DMDNM_004006.2(DMD): c.7105G> T (p.Glu2369Ter)single nucleotide variantPathogenicrs863225008GRCh38Chr X, 31836813: 31836813
154DMDNM_004006.2(DMD): c.7755G> A (p.Trp2585Ter)single nucleotide variantPathogenicrs762394978GRCh38Chr X, 31679492: 31679492
155DMDNM_004006.2(DMD): c.7817G> A (p.Trp2606Ter)single nucleotide variantPathogenicrs863225009GRCh38Chr X, 31679430: 31679430
156DMDNM_004006.2(DMD): c.8027+2T> Asingle nucleotide variantPathogenicrs863225010GRCh38Chr X, 31657988: 31657988
157DMDNM_004006.2(DMD): c.8038C> T (p.Arg2680Ter)single nucleotide variantPathogenicrs863225011GRCh37Chr X, 31645969: 31645969
158DMDNM_004006.2(DMD): c.8357G> A (p.Trp2786Ter)single nucleotide variantPathogenicrs863225012GRCh38Chr X, 31507314: 31507314
159DMDNM_004006.2(DMD): c.8390+2T> Csingle nucleotide variantPathogenicrs863225013GRCh38Chr X, 31507279: 31507279
160DMDNM_004006.2(DMD): c.8970_8971delGA (p.Asn2991Argfs)deletionPathogenicrs863225014GRCh38Chr X, 31444594: 31444595
161DMDNM_004006.2(DMD): c.9204_9207delCAAA (p.Asn3068Lysfs)deletionPathogenicrs863225015GRCh38Chr X, 31323615: 31323618
162DMDNM_004006.2(DMD): c.94-1G> Asingle nucleotide variantPathogenicrs863225016GRCh37Chr X, 32867938: 32867938
163DMDNM_004006.2(DMD): c.9551dupA (p.Asn3184Lysfs)duplicationPathogenicrs863225017GRCh37Chr X, 31227627: 31227627
164DMDNM_004006.2(DMD): c.9938_9941dupGTAA (p.Asn3314Lysfs)duplicationPathogenicrs863225018GRCh37Chr X, 31200888: 31200891
165DMDNM_004006.2(DMD): c.6502G> T (p.Glu2168Ter)single nucleotide variantPathogenicrs779739455GRCh38Chr X, 31968451: 31968451
166DMDNM_004006.2(DMD): c.9G> A (p.Trp3Ter)single nucleotide variantPathogenicrs398122853GRCh37Chr X, 33229421: 33229421
167DMDNM_004006.2(DMD): c.10033C> T (p.Arg3345Ter)single nucleotide variantPathogenicrs398123827GRCh37Chr X, 31198540: 31198540
168DMDNM_004006.2(DMD): c.10086+1G> Asingle nucleotide variantPathogenicrs398123828GRCh37Chr X, 31198486: 31198486
169DMDNM_004006.2(DMD): c.1012G> T (p.Glu338Ter)single nucleotide variantPathogenicrs398123830GRCh37Chr X, 32663218: 32663218
170DMDNM_004006.2(DMD): c.10171C> T (p.Arg3391Ter)single nucleotide variantPathogenicrs398123832GRCh37Chr X, 31196838: 31196838
171DMDNM_004019.2(DMD): c.1020G> A (p.Thr340=)single nucleotide variantPathogenicrs398123834GRCh37Chr X, 31196785: 31196785
172DMDNM_004006.2(DMD): c.10446_10447delCT (p.Ser3483Profs)deletionPathogenicrs398123837GRCh37Chr X, 31187666: 31187667
173DMDNM_004006.2(DMD): c.10454delT (p.Leu3485Argfs)deletionPathogenicrs398123839GRCh37Chr X, 31187659: 31187659
174DMDNM_004006.2(DMD): c.1048G> T (p.Glu350Ter)single nucleotide variantPathogenicrs398123840GRCh37Chr X, 32663182: 32663182
175DMDNM_004006.2(DMD): c.1261C> T (p.Gln421Ter)single nucleotide variantPathogenicrs398123852GRCh37Chr X, 32662319: 32662319
176DMDNM_004006.2(DMD): c.1306dupG (p.Val436Glyfs)duplicationPathogenicrs398123854GRCh37Chr X, 32662274: 32662274
177DMDNM_004006.2(DMD): c.1332-9A> Gsingle nucleotide variantPathogenicrs72468700GRCh37Chr X, 32632579: 32632579
178DMDNM_004006.2(DMD): c.1341_1342dupAG (p.Val448Glufs)duplicationPathogenicrs398123856GRCh37Chr X, 32632560: 32632561
179DMDNM_004006.2(DMD): c.1371delG (p.Glu459Serfs)deletionPathogenicrs398123857GRCh37Chr X, 32632531: 32632531
180DMDNM_004006.2(DMD): c.1465C> T (p.Gln489Ter)single nucleotide variantPathogenicrs398123861GRCh37Chr X, 32632437: 32632437
181DMDNM_004006.2(DMD): c.1482+1G> Tsingle nucleotide variantPathogenicrs398123862GRCh37Chr X, 32632419: 32632419
182DMDNM_004006.2(DMD): c.1529_1530delTC (p.Leu510Hisfs)deletionPathogenicrs398123863GRCh37Chr X, 32613946: 32613947
183DMDNM_004006.2(DMD): c.1615C> T (p.Arg539Ter)single nucleotide variantPathogenicrs398123865GRCh37Chr X, 32591951: 32591951
184DMDNM_004006.2(DMD): c.1886C> A (p.Ser629Ter)single nucleotide variantPathogenicrs398123867GRCh37Chr X, 32583925: 32583925
185DMDNM_004006.2(DMD): c.1990C> T (p.Gln664Ter)single nucleotide variantPathogenicrs398123870GRCh37Chr X, 32583821: 32583821
186DMDNM_004006.2(DMD): c.2032C> T (p.Gln678Ter)single nucleotide variantPathogenicrs398123872GRCh37Chr X, 32563412: 32563412
187DMDNM_004006.2(DMD): c.2125delC (p.Gln709Lysfs)deletionPathogenicrs398123875GRCh37Chr X, 32563319: 32563319
188DMDNM_004006.2(DMD): c.2294_2297delCCAT (p.Ala765Glufs)deletionPathogenicrs398123882GRCh37Chr X, 32519955: 32519958
189DMDNM_004006.2(DMD): c.2332C> T (p.Gln778Ter)single nucleotide variantPathogenicrs398123883GRCh37Chr X, 32519920: 32519920
190DMDNM_004006.2(DMD): c.2380+1G> Csingle nucleotide variantPathogenicrs398123884GRCh37Chr X, 32519871: 32519871
191DMDNM_004006.2(DMD): c.2381-1G> Tsingle nucleotide variantPathogenicrs398123887GRCh37Chr X, 32509636: 32509636
192DMDNM_004006.2(DMD): c.2419C> T (p.Gln807Ter)single nucleotide variantPathogenicrs398123888GRCh37Chr X, 32509597: 32509597
193DMDNM_004006.2(DMD): c.2547delT (p.Glu850Lysfs)deletionPathogenicrs398123895GRCh37Chr X, 32509469: 32509469
194DMDNM_004006.2(DMD): c.2650C> T (p.Gln884Ter)single nucleotide variantPathogenicrs398123903GRCh37Chr X, 32503189: 32503189
195DMDNM_004006.2(DMD): c.2804-1G> Asingle nucleotide variantPathogenicrs398123909GRCh37Chr X, 32490427: 32490427
196DMDNM_004006.2(DMD): c.2816T> A (p.Leu939Ter)single nucleotide variantPathogenicrs398123910GRCh37Chr X, 32490414: 32490414
197DMDNM_004006.2(DMD): c.28delT (p.Cys10Valfs)deletionPathogenicrs398123913GRCh37Chr X, 33229402: 33229402
198DMDNM_004006.2(DMD): c.31+1G> Tsingle nucleotide variantPathogenicrs398123923GRCh37Chr X, 33229398: 33229398
199DMDNM_004006.2(DMD): c.3151C> T (p.Arg1051Ter)single nucleotide variantPathogenicrs398123929GRCh37Chr X, 32486626: 32486626
200DMDNM_004006.2(DMD): c.3276+1G> Asingle nucleotide variantPathogenicrs398123934GRCh37Chr X, 32482702: 32482702
201DMDNM_004006.2(DMD): c.3295C> T (p.Gln1099Ter)single nucleotide variantPathogenicrs398123935GRCh37Chr X, 32481693: 32481693
202DMDNM_004006.2(DMD): c.336G> A (p.Trp112Ter)single nucleotide variantPathogenicrs398123936GRCh37Chr X, 32841433: 32841433
203DMDNM_004006.2(DMD): c.3432+1G> Asingle nucleotide variantPathogenicrs398123937GRCh37Chr X, 32481555: 32481555
204DMDNM_004006.2(DMD): c.3580C> T (p.Gln1194Ter)single nucleotide variantPathogenicrs398123942GRCh37Chr X, 32472802: 32472802
205DMDNM_004006.2(DMD): c.3603+2T> Asingle nucleotide variantPathogenicrs146071084GRCh37Chr X, 32472777: 32472777
206DMDNM_004006.2(DMD): c.3639dupA (p.Val1214Serfs)duplicationPathogenicrs398123943GRCh37Chr X, 32466720: 32466720
207DMDNM_004006.2(DMD): c.3747delG (p.Trp1249Cysfs)deletionPathogenicrs398123945GRCh37Chr X, 32466612: 32466612
208DMDNM_004006.2(DMD): c.3779_3785delCTTTGGAinsGG (p.Thr1260Argfs)indelPathogenicrs398123946GRCh37Chr X, 32466574: 32466580
209DMDNM_004006.2(DMD): c.4117C> T (p.Gln1373Ter)single nucleotide variantPathogenicrs398123948GRCh37Chr X, 32429985: 32429985
210DMDNM_004006.2(DMD): c.412_413delAA (p.Lys138Aspfs)deletionPathogenicrs398123949GRCh37Chr X, 32834702: 32834703
211DMDNM_004006.2(DMD): c.4375C> T (p.Arg1459Ter)single nucleotide variantPathogenicrs398123953GRCh37Chr X, 32407761: 32407761
212DMDNM_004006.2(DMD): c.4471_4472delAA (p.Lys1491Glufs)deletionPathogenicrs398123957GRCh37Chr X, 32407664: 32407665
213DMDNM_004006.2(DMD): c.4534_4535delCT (p.Leu1512Glufs)deletionPathogenicrs398123961GRCh37Chr X, 32404566: 32404567
214DMDNM_004006.2(DMD): c.4545_4549delGAAGT (p.Lys1516Terfs)deletionPathogenicrs398123962GRCh37Chr X, 32404552: 32404556
215DMDNM_004006.2(DMD): c.5124_5127delGAAA (p.Lys1708Asnfs)deletionPathogenicrs398123979GRCh37Chr X, 32382726: 32382729
216DMDNM_004006.2(DMD): c.5287C> T (p.Arg1763Ter)single nucleotide variantPathogenicrs398123981GRCh37Chr X, 32380943: 32380943
217DMDNM_004006.2(DMD): c.5530C> T (p.Arg1844Ter)single nucleotide variantPathogenicrs1064325GRCh37Chr X, 32364116: 32364116
218DMDNM_004006.2(DMD): c.5640T> A (p.Tyr1880Ter)single nucleotide variantPathogenicrs398123993GRCh37Chr X, 32361350: 32361350
219DMDNM_004006.2(DMD): c.5773G> T (p.Glu1925Ter)single nucleotide variantPathogenicrs398123997GRCh37Chr X, 32360366: 32360366
220DMDNM_004006.2(DMD): c.583C> T (p.Arg195Ter)single nucleotide variantPathogenicrs398123999GRCh37Chr X, 32827676: 32827676
221DMDNM_004006.2(DMD): c.5938G> T (p.Glu1980Ter)single nucleotide variantPathogenicrs398124001GRCh37Chr X, 32328378: 32328378
222DMDNM_004006.2(DMD): c.6000T> A (p.Tyr2000Ter)single nucleotide variantPathogenicrs398124002GRCh37Chr X, 32328316: 32328316
223DMDNM_004006.2(DMD): c.6072T> A (p.Cys2024Ter)single nucleotide variantPathogenicrs373804251GRCh37Chr X, 32328244: 32328244
224DMDNM_004006.2(DMD): c.615T> A (p.Tyr205Ter)single nucleotide variantPathogenicrs398124004GRCh37Chr X, 32827644: 32827644
225DMDNM_004006.2(DMD): c.6182delC (p.Ala2061Glufs)deletionPathogenicrs398124005GRCh37Chr X, 32305754: 32305754
226DMDNM_004006.2(DMD): c.649+1G> Asingle nucleotide variantPathogenicrs398124032GRCh37Chr X, 32827609: 32827609
227DMDNM_004006.2(DMD): c.6906G> A (p.Trp2302Ter)single nucleotide variantPathogenicrs398124036GRCh37Chr X, 31947719: 31947719
228DMDNM_004006.2(DMD): c.6986dupA (p.Leu2330Alafs)duplicationPathogenicrs398124040GRCh37Chr X, 31893417: 31893417
229DMDNM_004006.2(DMD): c.7189C> T (p.Gln2397Ter)single nucleotide variantPathogenicrs398124042GRCh37Chr X, 31854846: 31854846
230DMDNM_004006.2(DMD): c.7309+1G> Asingle nucleotide variantPathogenicrs398124044GRCh37Chr X, 31838091: 31838091
231DMDNM_004006.2(DMD): c.7657C> T (p.Arg2553Ter)single nucleotide variantPathogenicrs398124050GRCh37Chr X, 31747751: 31747751
232DMDNM_004006.2(DMD): c.7682G> A (p.Trp2561Ter)single nucleotide variantPathogenicrs398124052GRCh37Chr X, 31697682: 31697682
233DMDNM_004006.2(DMD): c.7683G> A (p.Trp2561Ter)single nucleotide variantPathogenicrs398124053GRCh37Chr X, 31697681: 31697681
234DMDNM_004006.2(DMD): c.7894C> T (p.Gln2632Ter)single nucleotide variantPathogenicrs398124058GRCh37Chr X, 31676240: 31676240
235DMDNM_004006.2(DMD): c.8064_8065delTA (p.His2688Glnfs)deletionPathogenicrs398124060GRCh37Chr X, 31645942: 31645943
236DMDNM_004006.2(DMD): c.8374_8375delAA (p.Lys2792Valfs)deletionPathogenicrs398124070GRCh37Chr X, 31525413: 31525414
237DMDNM_004006.2(DMD): c.8443C> T (p.Gln2815Ter)single nucleotide variantPathogenicrs398124072GRCh37Chr X, 31515009: 31515009
238DMDNM_004006.2(DMD): c.8608C> T (p.Arg2870Ter)single nucleotide variantPathogenicrs398124074GRCh37Chr X, 31497160: 31497160
239DMDNM_004006.2(DMD): c.8652_8653delCT (p.Tyr2885Profs)deletionPathogenicrs398124075GRCh37Chr X, 31497115: 31497116
240DMDNM_004006.2(DMD): c.8912_8913delTC (p.Leu2971Profs)deletionPathogenicrs398124078GRCh37Chr X, 31496247: 31496248
241DMDNM_004006.2(DMD): c.9125delA (p.His3042Profs)deletionPathogenicrs398124080GRCh37Chr X, 31366711: 31366711
242DMDNM_004006.2(DMD): c.9225-647A> Gsingle nucleotide variantPathogenicrs398124091GRCh37Chr X, 31279780: 31279780
243DMDNM_004006.2(DMD): c.9337C> T (p.Arg3113Ter)single nucleotide variantPathogenicrs398124092GRCh37Chr X, 31241188: 31241188
244DMDNM_004006.2(DMD): c.9361+1G> Asingle nucleotide variantPathogenicrs398124094GRCh37Chr X, 31241163: 31241163
245DMDNM_004006.2(DMD): c.9361+1G> Csingle nucleotide variantPathogenicrs398124094GRCh37Chr X, 31241163: 31241163
246DMDNM_004006.2(DMD): c.9564-1G> Asingle nucleotide variantPathogenicrs398124096GRCh37Chr X, 31224785: 31224785
247DMDNM_004006.2(DMD): c.9650-2A> Gsingle nucleotide variantPathogenicrs398124100GRCh37Chr X, 31222237: 31222237
248DMDNM_004006.2(DMD): c.9862G> T (p.Glu3288Ter)single nucleotide variantPathogenicrs398124106GRCh37Chr 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: 32 (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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Pathways related to Duchenne Muscular Dystrophy according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
10.1MB, NOS1
210.1DAG1, DMD, NOS1
39.9DMD, TNNI3, TNNT2
49.9DAG1, ITGA7, TNNI3
5
Show member pathways
9.8DAG1, DMD, ITGA7, TNNI3
6
Show member pathways
9.7DAG1, DMD, ITGA7, LTBP4, TNNI3
7
Show member pathways
9.6CAV3, DMD, NOS1, TNNI3, TNNT2
8
Show member pathways
9.6DAG1, DMD, ITGA7, TNNI3, TNNT2

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:

idNameGO IDScoreTop Affiliating Genes
1filopodium membraneGO:003152710.5DMD, UTRN
2protein complexGO:004323410.0DMD, SNTB2, UTRN
3synapseGO:004520210.0DMD, SNTB2, UTRN

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

idNameGO IDScoreTop Affiliating Genes
1regulation of heart rateGO:000202710.4CAV3, DMD
2regulation of cardiac muscle contractionGO:005511710.3CAV3, NOS1
3cardiac muscle contractionGO:006004810.1DMD, TNNI3, TNNT2
4extracellular matrix organizationGO:003019810.0DAG1, DMD, ITGA7
5muscle organ developmentGO:000751710.0CAV3, DMD, MSTN
6regulation of heart contractionGO:00080169.9CAV3, NOS1

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

idNameGO IDScoreTop Affiliating Genes
1nitric-oxide synthase bindingGO:005099810.2CAV3, DMD
2vinculin bindingGO:00171669.8DAG1, DMD, UTRN

Sources for Duchenne Muscular Dystrophy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet