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Pediatric Disease Annotations & Medicines



   becker muscular dystrophy
  

Disease ID 233
Disease becker muscular dystrophy
Definition
An X-linked inherited disorder characterized by slowly progressing weakness in the muscles of the legs and pelvis.
Synonym
becker dystrophies muscular
becker dystrophy
becker dystrophy muscular
becker muscular dystrophy (disorder)
becker's disease
becker's dystrophy muscular
becker's muscular dystrophy
becker's muscular dystrophy (disorder)
beckers dystrophy
beckers dystrophy muscular
bmd - becker muscular dystrophy
muscular dystrophy pseudohypertrophic progressive, becker type
muscular dystrophy, becker
muscular dystrophy, becker type
muscular dystrophy, becker's
muscular dystrophy, pseudohypertrophic progressive, becker type
Orphanet
OMIM
DOID
UMLS
C0917713
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:11)
C0022116  |  ischemia  |  2
C0013264  |  duchenne muscular dystrophy  |  1
C0018801  |  heart failure  |  1
C1960469  |  left ventricular noncompaction  |  1
C0007193  |  dilated cardiomyopathy  |  1
C0878544  |  cardiomyopathy  |  1
C0948265  |  metabolic syndrome  |  1
C0026850  |  muscular dystrophy  |  1
C0022116  |  ischaemia  |  1
C0013338  |  growth hormone deficiency  |  1
C0032326  |  pneumothorax  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:1)
DMD  |  1756  |  CLINVAR;ORPHANET;UNIPROT
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:85)
84245  |  MRI1  |  DISEASES
7414  |  VCL  |  DISEASES
6640  |  SNTA1  |  DISEASES
7076  |  TIMP1  |  DISEASES
6445  |  SGCG  |  DISEASES
1158  |  CKM  |  DISEASES
7040  |  TGFB1  |  DISEASES
2218  |  FKTN  |  DISEASES
4618  |  MYF6  |  DISEASES
4617  |  MYF5  |  DISEASES
26528  |  DAZAP1  |  DISEASES
4656  |  MYOG  |  DISEASES
8082  |  SSPN  |  DISEASES
4654  |  MYOD1  |  DISEASES
10468  |  FST  |  DISEASES
2660  |  MSTN  |  DISEASES
6442  |  SGCA  |  DISEASES
51588  |  PIAS4  |  DISEASES
1421  |  CRYGD  |  DISEASES
8048  |  CSRP3  |  DISEASES
5286  |  PIK3C2A  |  DISEASES
2840  |  GPR17  |  DISEASES
288  |  ANK3  |  DISEASES
4634  |  MYL3  |  DISEASES
6051  |  RNPEP  |  DISEASES
7871  |  SLMAP  |  DISEASES
168667  |  BMPER  |  DISEASES
11318  |  GPR182  |  DISEASES
8581  |  LY6D  |  DISEASES
29  |  ABR  |  DISEASES
11141  |  IL1RAPL1  |  DISEASES
1488  |  CTBP2  |  DISEASES
1605  |  DAG1  |  DISEASES
203859  |  ANO5  |  DISEASES
79147  |  FKRP  |  DISEASES
83733  |  SLC25A18  |  DISEASES
4842  |  NOS1  |  DISEASES
6444  |  SGCD  |  DISEASES
859  |  CAV3  |  DISEASES
7273  |  TTN  |  DISEASES
26280  |  IL1RAPL2  |  DISEASES
1760  |  DMPK  |  DISEASES
133584  |  EGFLAM  |  DISEASES
8654  |  PDE5A  |  DISEASES
1785  |  DNM2  |  DISEASES
287  |  ANK2  |  DISEASES
6261  |  RYR1  |  DISEASES
4151  |  MB  |  DISEASES
1756  |  DMD  |  DISEASES
3608  |  ILF2  |  DISEASES
2913  |  GRM3  |  DISEASES
5867  |  RAB4A  |  DISEASES
7402  |  UTRN  |  DISEASES
844  |  CASQ1  |  DISEASES
4534  |  MTM1  |  DISEASES
642489  |  FKBP1C  |  DISEASES
8880  |  FUBP1  |  DISEASES
1376  |  CPT2  |  DISEASES
6780  |  STAU1  |  DISEASES
2170  |  FABP3  |  DISEASES
22954  |  TRIM32  |  DISEASES
8518  |  IKBKAP  |  DISEASES
80036  |  TRPM3  |  DISEASES
2710  |  GK  |  DISEASES
6443  |  SGCB  |  DISEASES
2280  |  FKBP1A  |  DISEASES
7247  |  TSN  |  DISEASES
6430  |  SRSF5  |  DISEASES
10020  |  GNE  |  DISEASES
9677  |  PPIP5K1  |  DISEASES
825  |  CAPN3  |  DISEASES
4703  |  NEB  |  DISEASES
1837  |  DTNA  |  DISEASES
1838  |  DTNB  |  DISEASES
81493  |  SYNC  |  DISEASES
8291  |  DYSF  |  DISEASES
10659  |  CELF2  |  DISEASES
3109  |  HLA-DMB  |  DISEASES
3908  |  LAMA2  |  DISEASES
55035  |  NOL8  |  DISEASES
7499  |  XG  |  DISEASES
51164  |  DCTN4  |  DISEASES
27067  |  STAU2  |  DISEASES
84000  |  TMPRSS13  |  DISEASES
4637  |  MYL6  |  DISEASES
Locus
Symbol | Locus(Total Locus:1)
DMD  |  Xp21.2-p21.1
Disease ID 233
Disease becker muscular dystrophy
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:16)
HP:0012086  |  Abnormal urinary color
HP:0040083  |  Toe walking
HP:0002910  |  Elevated hepatic transaminases
HP:0002913  |  Myoglobinuria
HP:0002355  |  Difficulty walking
HP:0012378  |  Fatigue
HP:0001324  |  Muscle weakness
HP:0002527  |  Falls
HP:0003202  |  Skeletal muscle atrophy
HP:0003236  |  Elevated serum creatine phosphokinase
HP:0003394  |  Muscle cramps
HP:0003546  |  Exercise intolerance
HP:0003551  |  Difficulty climbing stairs
HP:0002814  |  Abnormality of the lower limb
HP:0003326  |  Myalgia
HP:0001763  |  Pes planus
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:13)
Disease ID 233
Disease becker muscular dystrophy
Manually Symptom
UMLS  | Name(Total Manually Symptoms:15)
C1839611  |  n syndrome
C0878544  |  myocardiopathy
C0878544  |  cardiomyopathy
C0231528  |  myalgia
C0151517  |  complete atrioventricular block
C0040053  |  thrombosis
C0037315  |  sleep apnea
C0025362  |  mental retardation
C0024591  |  malignant hyperthermia
C0019829  |  hodgkin's disease
C0018801  |  heart failure
C0018801  |  cardiac failure
C0014544  |  epilepsy
C0007780  |  cerebral embolism
C0003864  |  arthritis
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:2)
C0878544  |  cardiomyopathy  |  1
C0018801  |  heart failure  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:138)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs104894787NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX31178784GA
rs104894791NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX31177932GA
rs104894797NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX31206663GA
rs1064325NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32345999GT,A
rs128626236NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32816495GT
rs128626237NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32699252AT
rs128626251NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32216981GA
rs128627256NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX31478330GA
rs146071084NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32454660AT
rs1800279NA1756DMDumls:C0917713UNIPROTNA0.497741174NADMDX31478281TC
rs1800279NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX31478281TC
rs199774535NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32348491GA,C
rs201361100NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX31478995GC
rs267606771NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32448611CA
rs370644567NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32573618AG
rs373286166NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32573529CT
rs373804251NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32310127AG,T
rs398122853197936551756DMDumls:C0917713BeFreeDMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy.0.4977411742009DMDX33211304CT
rs398122853NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX33211304CT
rs398123827NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX31180423GA
rs398123828NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX31180369CT
rs398123830NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32645101CA
rs398123832NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX31178721GA
rs398123834NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX31178668CT,G
rs398123837NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX31169549AG-
rs398123840NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32645065CA
rs398123852NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32644202GC,A
rs398123853NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32644177GT
rs398123854NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32644156-C
rs398123856NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32614442-CT
rs398123857NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32614414C-
rs398123861NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32614320GA
rs398123862NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32614302CA
rs398123863NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32595829GA-
rs398123865NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32573834GA
rs398123867NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32565808GT
rs398123870NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32565704GA
rs398123872NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32545295GC,A
rs398123875NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32545202G-
rs398123882NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32501838ATGG-
rs398123883NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32501803GA
rs398123884NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32501754CG
rs398123887NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32491519CA
rs398123888NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32491480GA
rs398123895NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32491352A-
rs398123903NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32485072GA
rs398123908NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32484918CT,A
rs398123909NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32472310CT
rs398123910NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32472297AT
rs398123913NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX33211285A-
rs398123923NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX33211281CA
rs398123934NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32464585CT
rs398123935NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32463576GA
rs398123936NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32823316CT
rs398123937NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32463438CT
rs398123942NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32454685GA
rs398123943NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32448602-T
rs398123945NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32448495C-
rs398123946NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32448457TCCAAAGCC
rs398123948NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32411868GA
rs398123949NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32816585TT-
rs398123957NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32389547TT-
rs398123961NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32386449AG-
rs398123962NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32386435ACTTC-
rs398123979NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32364609TTTC-
rs398123981NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32362826GA
rs398123993NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32343233AT
rs398123999NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32809559GA
rs398124001NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32310261CA
rs398124002NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32310199AT
rs398124004NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32809527AT
rs398124005NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32287637G-
rs398124032NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32809492CT
rs398124036NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX31929602CT,A
rs398124042NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX31836729GA
rs398124044NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX31819974CT
rs398124050NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX31729634GA
rs398124052NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX31679565CT
rs398124053NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX31679564CT
rs398124058NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX31658123GA
rs398124060NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX31627825TA-
rs398124070NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX31507296TT-
rs398124074NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX31479043GA
rs398124075NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX31478998AG-
rs398124078NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX31478130GA-
rs398124080NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX31348594T-
rs398124082NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX31323659CG,A
rs398124091NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX31261663TC
rs398124092NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX31223071GA
rs398124094NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX31223046CT,G
rs398124096NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX31206668CT
rs398124100NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX31204120TC
rs398124106NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX31182850CA
rs5030730NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32438372GA
rs587776747NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX31261301TC
rs72468700NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32614462TG,C
rs727503802NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX31478363CA
rs727503830NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32380549TA
rs727503836NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32454733CA
rs727503844NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32468704GA
rs727503850NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32484967TA
rs727503858NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32491415AC
rs727503864NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32697947GA
rs754896795NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX31875304TC
rs794726993NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32645020GA
rs794726994NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32645043G-
rs794727030NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32644315TC
rs794727097NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32595823GTGA-
rs794727123NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32573744CT
rs794727170NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32565782GA
rs794727322NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32491297TT-
rs794727357NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32472311TA
rs794727358NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32472297AA-
rs794727359NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32472179TC-
rs794727421NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32454765GATA-
rs794727422NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32454730CA
rs794727463NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32441263TA
rs794727499NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32849781GA
rs794727550NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32390100TA
rs794727567NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32386461A-
rs794727575NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32380682TC
rs794727661NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32343176T-
rs794727672NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32287581G-
rs794727746NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX31819988GG-
rs794727749NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX31774058G-
rs794727763NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX31627706G-
rs794727770NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX31478376TG
rs794727795NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32816570CAGCTCAGGAGAAT-
rs794727820NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX31323606GC
rs794727832NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX31180478GC
rs794727861NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32809577GA
rs794727862NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32809515T-
rs794727890NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX31147520TC
rs796065325NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX33211298TTA
rs796065333NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32809594-A
rs797044743NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX31932168-AAAC
rs797044756NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX32823360-A
rs797044764NA1756DMDumls:C0917713CLINVARNA0.497741174NADMDX31820036-A
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Chemical(Total Drugs:0)
(Waiting for update.)
FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)
FDA labeling changes(Total Drugs:0)
(Waiting for update.)