PedAM

Pediatric Disease Annotations & Medicines


	duchenne muscular dystrophy

Disease ID	482
Disease	duchenne muscular dystrophy
Definition	An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)
Synonym	benign duchenne muscular dystrophy cardiomyopathy, dilated, 3b cardiomyopathy, dilated, x-linked childhood muscular dystrophy, pseudohypertrophic childhood pseudohypertrophic muscular dystrophy dmd dmd - duchenne muscular dystrophy duchenne musc. dyst. duchenne muscular dystrophy (disorder) duchenne muscular dystrophy (dmd) duchenne type progressive muscular dystrophy duchenne's muscular dystrophy duchenne-griesinger syndrome duchenne-type progressive muscular dystrophy muscular dystrophy, childhood, pseudohypertrophic muscular dystrophy, duchenne muscular dystrophy, duchenne [disease/finding] muscular dystrophy, duchenne type muscular dystrophy, pseudohypertrophic muscular dystrophy, pseudohypertrophic progressive, duchenne type muscular dystrophy, pseudohypertrophic, childhood progressive muscular dystrophy, duchenne type pseudohypertrophic childhood muscular dystrophy pseudohypertrophic muscular dystrophy pseudohypertrophic muscular dystrophy, childhood x-linked muscular dystrophy
Orphanet	ORPHANET:98896
OMIM	OMIM:310200 OMIM:302045
DOID	DOID:11723
UMLS	C0013264
MeSH	D020388
SNOMED-CT	SNOMEDCT_US_2016_09_01:76670001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:25) C0878544 \| cardiomyopathy \| 14 C0036439 \| scoliosis \| 13 C0025362 \| mental retardation \| 4 C0018801 \| heart failure \| 3 C0007193 \| dilated cardiomyopathy \| 2 C1145670 \| respiratory failure \| 2 C1960469 \| left ventricular noncompaction \| 1 C0026846 \| muscular atrophy \| 1 C0018799 \| cardiac disease \| 1 C0018801 \| cardiac failure \| 1 C0035309 \| retinopathy \| 1 C0022116 \| ischemia \| 1 C0029456 \| osteoporosis \| 1 C0011570 \| depression \| 1 C0018799 \| heart disease \| 1 C0028754 \| obesity \| 1 C0007222 \| cardiovascular disease \| 1 C0238106 \| clostridium difficile colitis \| 1 C0021400 \| influenza \| 1 C0004245 \| atrioventricular block \| 1 C0009319 \| colitis \| 1 C0035229 \| respiratory insufficiency \| 1 C0018802 \| congestive heart failure \| 1 C0851578 \| sleep disorders \| 1 C0042373 \| vascular disease \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:7) TGFB1 \| 7040 \| CTD_human CD4 \| 920 \| CTD_human CCL2 \| 6347 \| CTD_human DMD \| 1756 \| CLINVAR;CTD_human;ORPHANET;UNIPROT POSTN \| 10631 \| CTD_human LTBP4 \| 8425 \| ORPHANET MYF6 \| 4618 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:5) 1756 \| DMD \| infer 3105 \| HLA-A \| infer 3106 \| HLA-B \| infer 3123 \| HLA-DRB1 \| infer 6696 \| SPP1 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:332) 5009 \| OTC \| DISEASES 84245 \| MRI1 \| DISEASES 1634 \| DCN \| DISEASES 7544 \| ZFY \| DISEASES 7205 \| TRIP6 \| DISEASES 140465 \| MYL6B \| DISEASES 7414 \| VCL \| DISEASES 23411 \| SIRT1 \| DISEASES 112755 \| STX1B \| DISEASES 266 \| AMELY \| DISEASES 3162 \| HMOX1 \| DISEASES 5816 \| PVALB \| DISEASES 55734 \| ZFP64 \| DISEASES 6640 \| SNTA1 \| DISEASES 282808 \| RAB40AL \| DISEASES 7076 \| TIMP1 \| DISEASES 6445 \| SGCG \| DISEASES 4313 \| MMP2 \| DISEASES 1158 \| CKM \| DISEASES 7040 \| TGFB1 \| DISEASES 3912 \| LAMB1 \| DISEASES 2218 \| FKTN \| DISEASES 10105 \| PPIF \| DISEASES 26574 \| AATF \| DISEASES 1277 \| COL1A1 \| DISEASES 4619 \| MYH1 \| DISEASES 1075 \| CTSC \| DISEASES 24145 \| PANX1 \| DISEASES 4618 \| MYF6 \| DISEASES 4617 \| MYF5 \| DISEASES 4633 \| MYL2 \| DISEASES 79923 \| NANOG \| DISEASES 3945 \| LDHB \| DISEASES 4224 \| MEP1A \| DISEASES 2908 \| NR3C1 \| DISEASES 65977 \| PLEKHA3 \| DISEASES 471 \| ATIC \| DISEASES 4360 \| MRC1 \| DISEASES 57616 \| TSHZ3 \| DISEASES 4656 \| MYOG \| DISEASES 8655 \| DYNLL1 \| DISEASES 26994 \| RNF11 \| DISEASES 8082 \| SSPN \| DISEASES 652 \| BMP4 \| DISEASES 4620 \| MYH2 \| DISEASES 3976 \| LIF \| DISEASES 4654 \| MYOD1 \| DISEASES 968 \| CD68 \| DISEASES 6192 \| RPS4Y1 \| DISEASES 54795 \| TRPM4 \| DISEASES 10343 \| PKDREJ \| DISEASES 9104 \| RGN \| DISEASES 1160 \| CKMT2 \| DISEASES 182 \| JAG1 \| DISEASES 4622 \| MYH4 \| DISEASES 10752 \| CHL1 \| DISEASES 10468 \| FST \| DISEASES 50640 \| PNPLA8 \| DISEASES 10220 \| GDF11 \| DISEASES 3569 \| IL6 \| DISEASES 2995 \| GYPC \| DISEASES 7111 \| TMOD1 \| DISEASES 11258 \| DCTN3 \| DISEASES 5460 \| POU5F1 \| DISEASES 2660 \| MSTN \| DISEASES 6442 \| SGCA \| DISEASES 6604 \| SMARCD3 \| DISEASES 5595 \| MAPK3 \| DISEASES 3791 \| KDR \| DISEASES 2247 \| FGF2 \| DISEASES 25759 \| SHC2 \| DISEASES 10891 \| PPARGC1A \| DISEASES 7472 \| WNT2 \| DISEASES 5286 \| PIK3C2A \| DISEASES 3263 \| HPX \| DISEASES 1795 \| DOCK3 \| DISEASES 4060 \| LUM \| DISEASES 10150 \| MBNL2 \| DISEASES 100820829 \| MYZAP \| DISEASES 207 \| AKT1 \| DISEASES 126969 \| SLC44A3 \| DISEASES 805 \| CALM2 \| DISEASES 51365 \| PLA1A \| DISEASES 185 \| AGTR1 \| DISEASES 7220 \| TRPC1 \| DISEASES 90226 \| UCN2 \| DISEASES 4851 \| NOTCH1 \| DISEASES 25891 \| PAMR1 \| DISEASES 6768 \| ST14 \| DISEASES 9472 \| AKAP6 \| DISEASES 291 \| SLC25A4 \| DISEASES 7082 \| TJP1 \| DISEASES 4154 \| MBNL1 \| DISEASES 2697 \| GJA1 \| DISEASES 29974 \| A1CF \| DISEASES 116337 \| PANX3 \| DISEASES 1525 \| CXADR \| DISEASES 761 \| CA3 \| DISEASES 7411 \| VBP1 \| DISEASES 5468 \| PPARG \| DISEASES 70 \| ACTC1 \| DISEASES 5692 \| PSMB4 \| DISEASES 1636 \| ACE \| DISEASES 808 \| CALM3 \| DISEASES 4634 \| MYL3 \| DISEASES 6811 \| STX5 \| DISEASES 6006 \| RHCE \| DISEASES 824 \| CAPN2 \| DISEASES 29765 \| TMOD4 \| DISEASES 1293 \| COL6A3 \| DISEASES 7871 \| SLMAP \| DISEASES 28999 \| KLF15 \| DISEASES 4131 \| MAP1B \| DISEASES 85409 \| NKD2 \| DISEASES 5224 \| PGAM2 \| DISEASES 4846 \| NOS3 \| DISEASES 1073 \| CFL2 \| DISEASES 1152 \| CKB \| DISEASES 3611 \| ILK \| DISEASES 1159 \| CKMT1B \| DISEASES 124872 \| B4GALNT2 \| DISEASES 1292 \| COL6A2 \| DISEASES 7644 \| ZNF91 \| DISEASES 6786 \| STIM1 \| DISEASES 54760 \| PCSK4 \| DISEASES 8581 \| LY6D \| DISEASES 23524 \| SRRM2 \| DISEASES 3479 \| IGF1 \| DISEASES 3308 \| HSPA4 \| DISEASES 43 \| ACHE \| DISEASES 83660 \| TLN2 \| DISEASES 6588 \| SLN \| DISEASES 7543 \| ZFX \| DISEASES 11141 \| IL1RAPL1 \| DISEASES 57555 \| NLGN2 \| DISEASES 9455 \| HOMER2 \| DISEASES 2548 \| GAA \| DISEASES 3708 \| ITPR1 \| DISEASES 4632 \| MYL1 \| DISEASES 54205 \| CYCS \| DISEASES 29766 \| TMOD3 \| DISEASES 79974 \| CPED1 \| DISEASES 27129 \| HSPB7 \| DISEASES 1488 \| CTBP2 \| DISEASES 8425 \| LTBP4 \| DISEASES 56931 \| DUS3L \| DISEASES 1605 \| DAG1 \| DISEASES 1464 \| CSPG4 \| DISEASES 493829 \| TRIM72 \| DISEASES 203859 \| ANO5 \| DISEASES 23080 \| AVL9 \| DISEASES 246213 \| SLC17A8 \| DISEASES 4684 \| NCAM1 \| DISEASES 80381 \| CD276 \| DISEASES 5339 \| PLEC \| DISEASES 977 \| CD151 \| DISEASES 2027 \| ENO3 \| DISEASES 283518 \| KCNRG \| DISEASES 79147 \| FKRP \| DISEASES 5178 \| PEG3 \| DISEASES 23347 \| SMCHD1 \| DISEASES 8204 \| NRIP1 \| DISEASES 633 \| BGN \| DISEASES 3768 \| KCNJ12 \| DISEASES 10572 \| SIVA1 \| DISEASES 6906 \| SERPINA7 \| DISEASES 56849 \| TCEAL7 \| DISEASES 71 \| ACTG1 \| DISEASES 6007 \| RHD \| DISEASES 5025 \| P2RX4 \| DISEASES 23336 \| SYNM \| DISEASES 4842 \| NOS1 \| DISEASES 3300 \| DNAJB2 \| DISEASES 6645 \| SNTB2 \| DISEASES 6444 \| SGCD \| DISEASES 857 \| CAV1 \| DISEASES 7060 \| THBS4 \| DISEASES 57175 \| CORO1B \| DISEASES 93 \| ACVR2B \| DISEASES 4208 \| MEF2C \| DISEASES 7225 \| TRPC6 \| DISEASES 89882 \| TPD52L3 \| DISEASES 84062 \| DTNBP1 \| DISEASES 3178 \| HNRNPA1 \| DISEASES 7137 \| TNNI3 \| DISEASES 859 \| CAV3 \| DISEASES 1431 \| CS \| DISEASES 51393 \| TRPV2 \| DISEASES 2537 \| IFI6 \| DISEASES 7273 \| TTN \| DISEASES 5549 \| PRELP \| DISEASES 10541 \| ANP32B \| DISEASES 1760 \| DMPK \| DISEASES 8654 \| PDE5A \| DISEASES 3792 \| KEL \| DISEASES 4625 \| MYH7 \| DISEASES 1785 \| DNM2 \| DISEASES 4624 \| MYH6 \| DISEASES 801 \| CALM1 \| DISEASES 487 \| ATP2A1 \| DISEASES 987 \| LRBA \| DISEASES 23034 \| SAMD4A \| DISEASES 26052 \| DNM3 \| DISEASES 23607 \| CD2AP \| DISEASES 8076 \| MFAP5 \| DISEASES 6261 \| RYR1 \| DISEASES 4151 \| MB \| DISEASES 6533 \| SLC6A6 \| DISEASES 800 \| CALD1 \| DISEASES 4604 \| MYBPC1 \| DISEASES 1756 \| DMD \| DISEASES 3608 \| ILF2 \| DISEASES 9722 \| NOS1AP \| DISEASES 1291 \| COL6A1 \| DISEASES 6262 \| RYR2 \| DISEASES 4548 \| MTR \| DISEASES 88 \| ACTN2 \| DISEASES 5867 \| RAB4A \| DISEASES 23345 \| SYNE1 \| DISEASES 7139 \| TNNT2 \| DISEASES 5788 \| PTPRC \| DISEASES 7402 \| UTRN \| DISEASES 1490 \| CTGF \| DISEASES 844 \| CASQ1 \| DISEASES 3766 \| KCNJ10 \| DISEASES 10763 \| NES \| DISEASES 4000 \| LMNA \| DISEASES 664 \| BNIP3 \| DISEASES 8038 \| ADAM12 \| DISEASES 474384 \| F8A3 \| DISEASES 1193 \| CLIC2 \| DISEASES 474383 \| F8A2 \| DISEASES 4803 \| NGF \| DISEASES 8517 \| IKBKG \| DISEASES 2010 \| EMD \| DISEASES 55361 \| PI4K2A \| DISEASES 55796 \| MBNL3 \| DISEASES 6780 \| STAU1 \| DISEASES 7422 \| VEGFA \| DISEASES 4318 \| MMP9 \| DISEASES 5476 \| CTSA \| DISEASES 5225 \| PGC \| DISEASES 203 \| AK1 \| DISEASES 3710 \| ITPR3 \| DISEASES 127294 \| MYOM3 \| DISEASES 1269 \| CNR2 \| DISEASES 8518 \| IKBKAP \| DISEASES 3339 \| HSPG2 \| DISEASES 1388 \| ATF6B \| DISEASES 5081 \| PAX7 \| DISEASES 54829 \| ASPN \| DISEASES 4879 \| NPPB \| DISEASES 1471 \| CST3 \| DISEASES 8418 \| CMAHP \| DISEASES 6103 \| RPGR \| DISEASES 8406 \| SRPX \| DISEASES 6990 \| DYNLT3 \| DISEASES 1536 \| CYBB \| DISEASES 7504 \| XK \| DISEASES 2710 \| GK \| DISEASES 190 \| NR0B1 \| DISEASES 375790 \| AGRN \| DISEASES 2308 \| FOXO1 \| DISEASES 7222 \| TRPC3 \| DISEASES 10631 \| POSTN \| DISEASES 7114 \| TMSB4X \| DISEASES 6606 \| SMN1 \| DISEASES 265 \| AMELX \| DISEASES 6607 \| SMN2 \| DISEASES 6443 \| SGCB \| DISEASES 2280 \| FKBP1A \| DISEASES 80333 \| KCNIP4 \| DISEASES 26278 \| SACS \| DISEASES 6736 \| SRY \| DISEASES 361 \| AQP4 \| DISEASES 5077 \| PAX3 \| DISEASES 51651 \| PTRH2 \| DISEASES 136319 \| MTPN \| DISEASES 5532 \| PPP3CB \| DISEASES 6602 \| SMARCD1 \| DISEASES 1198 \| CLK3 \| DISEASES 6696 \| SPP1 \| DISEASES 1821 \| DRP2 \| DISEASES 6641 \| SNTB1 \| DISEASES 816 \| CAMK2B \| DISEASES 831 \| CAST \| DISEASES 7919 \| DDX39B \| DISEASES 5239 \| PGM5 \| DISEASES 2628 \| GATM \| DISEASES 9677 \| PPIP5K1 \| DISEASES 825 \| CAPN3 \| DISEASES 4703 \| NEB \| DISEASES 8570 \| KHSRP \| DISEASES 1837 \| DTNA \| DISEASES 219623 \| TMEM26 \| DISEASES 6345 \| SRL \| DISEASES 23353 \| SUN1 \| DISEASES 1838 \| DTNB \| DISEASES 23308 \| ICOSLG \| DISEASES 80204 \| FBXO11 \| DISEASES 25777 \| SUN2 \| DISEASES 2011 \| MARK2 \| DISEASES 81493 \| SYNC \| DISEASES 8291 \| DYSF \| DISEASES 6603 \| SMARCD2 \| DISEASES 1195 \| CLK1 \| DISEASES 202333 \| CMYA5 \| DISEASES 7124 \| TNF \| DISEASES 3109 \| HLA-DMB \| DISEASES 3908 \| LAMA2 \| DISEASES 55035 \| NOL8 \| DISEASES 93649 \| MYOCD \| DISEASES 548596 \| CKMT1A \| DISEASES 7499 \| XG \| DISEASES 441531 \| PGAM4 \| DISEASES 8842 \| PROM1 \| DISEASES 9127 \| P2RX6 \| DISEASES 54751 \| FBLIM1 \| DISEASES 10243 \| GPHN \| DISEASES 96459 \| FNIP1 \| DISEASES 114907 \| FBXO32 \| DISEASES 27067 \| STAU2 \| DISEASES 54212 \| SNTG1 \| DISEASES 3066 \| HDAC2 \| DISEASES 3347 \| HTN3 \| DISEASES 84000 \| TMPRSS13 \| DISEASES 5027 \| P2RX7 \| DISEASES 4637 \| MYL6 \| DISEASES 91612 \| CHURC1 \| DISEASES 3679 \| ITGA7 \| DISEASES 84033 \| OBSCN \| DISEASES 101241891 \| LINC00850 \| DISEASES
Locus	(Waiting for update.)

Disease ID	482
Disease	duchenne muscular dystrophy
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:16) HP:0002650 \| Scoliosis HP:0001270 \| Motor delay HP:0001263 \| Global developmental delay HP:0000750 \| Delayed speech and language development HP:0001371 \| Flexion contracture HP:0001638 \| Cardiomyopathy HP:0003236 \| Elevated serum creatine phosphokinase HP:0008981 \| Calf muscle hypertrophy HP:0100543 \| Cognitive impairment HP:0003202 \| Skeletal muscle atrophy HP:0002093 \| Respiratory insufficiency HP:0001328 \| Specific learning disability HP:0001644 \| Congestive cardiomyopathy HP:0002515 \| Waddling gait HP:0003323 \| Progressive muscle weakness HP:0003701 \| Proximal muscle weakness
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:37) HP:0001638 \| Cardiomyopathy \| 14 HP:0002650 \| Scoliosis \| 13 HP:0001635 \| Congestive heart failure \| 4 HP:0001249 \| Mental retardation \| 4 HP:0001324 \| Muscular weakness \| 4 HP:0002015 \| Swallowing difficulty \| 3 HP:0003201 \| Rhabdomyolysis \| 2 HP:0004308 \| Ventricular arrhythmia \| 2 HP:0001644 \| Congestive cardiomyopathy \| 2 HP:0000969 \| Dropsy \| 2 HP:0002878 \| Respiratory failure \| 2 HP:0000823 \| Pubertal delay \| 2 HP:0003323 \| Muscle weakness, progressive \| 2 HP:0100543 \| Cognitive deficits \| 2 HP:0002617 \| Aneurysmal dilatation \| 2 HP:0006698 \| Ventricular aneurysm \| 2 HP:0003202 \| Neurogenic muscle atrophy, especially in the lower limbs \| 2 HP:0011675 \| Arrhythmias \| 2 HP:0000939 \| Osteoporosis \| 1 HP:0012340 \| Decreased resting energy expenditure \| 1 HP:0000708 \| Behavioral problems \| 1 HP:0002597 \| Abnormality of blood vessels \| 1 HP:0000716 \| Depression \| 1 HP:0003287 \| Abnormality of mitochondrial metabolism \| 1 HP:0001907 \| Thromboembolic disease \| 1 HP:0001289 \| Confusion \| 1 HP:0002792 \| Decreased vital capacity \| 1 HP:0001513 \| Obesity \| 1 HP:0000488 \| Noninflammatory retina disease \| 1 HP:0030682 \| Left ventricular noncompaction \| 1 HP:0000202 \| Oral clefting \| 1 HP:0003552 \| Muscle stiffness \| 1 HP:0002615 \| Low blood pressure \| 1 HP:0002583 \| Colitis \| 1 HP:0010864 \| Early and severe mental retardation \| 1 HP:0001685 \| Myocardial fibrosis \| 1 HP:0001678 \| Atrioventricular block \| 1

Disease ID	482
Disease	duchenne muscular dystrophy
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:15) C0878544 \| cardiomyopathy \| 14 C0036439 \| scoliosis \| 13 C0004093 \| weakness \| 4 C0025362 \| mental retardation \| 4 C0018801 \| heart failure \| 3 C0011168 \| dysphagia \| 3 C0007193 \| dilated cardiomyopathy \| 2 C1145670 \| respiratory failure \| 2 C0029456 \| osteoporosis \| 1 C0018802 \| congestive heart failure \| 1 C0013922 \| embolism \| 1 C0151517 \| complete atrioventricular block \| 1 C0234958 \| muscle degeneration \| 1 C0018799 \| cardiac disease \| 1 C1260922 \| breathing disorder \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:176)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104894787	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31178784	G	A
rs104894790	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31178751	G	A
rs104894797	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31206663	G	A
rs1064325	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32345999	G	T,A
rs128625226	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32454796	C	A
rs128625227	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32484931	C	A
rs128625228	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32345978	G	A
rs128625229	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31444621	G	A
rs128625230	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31875331	G	A
rs128626231	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32849753	A	C
rs128626232	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32545310	G	A
rs128626233	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32849736	G	A
rs128626234	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32844794	G	A
rs128626235	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32816565	G	T,A
rs128626238	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32699219	G	A
rs128626239	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32699195	C	A
rs128626241	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32595870	G	A
rs128626242	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32565742	C	T,G
rs128626243	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32501827	T	A
rs128626244	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32501818	T	C
rs128626245	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32468539	G	A
rs128626246	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32464674	C	T
rs128626247	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32411772	G	A
rs128626248	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32389605	G	A
rs128626249	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32342123	G	A
rs128626250	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32217062	G	A
rs128626251	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32216981	G	A
rs128626252	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31929718	G	A
rs128626253	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31774100	C	A
rs128626254	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31323625	G	T
rs128627256	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31478330	G	A
rs128627257	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32310214	A	C
rs146071084	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32454660	A	T
rs146880270	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32438312	C	T
rs1800278	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31478309	T	C
rs199774535	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32348491	G	A,C
rs201361100	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31478995	G	C
rs201366610	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32501833	G	A,C
rs267606770	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32501821	C	A
rs28357094	24626632	6696	SPP1	umls:C0013264	BeFree	A promoter polymorphism of the osteopontin (OPN) gene (rs28357094) has been associated with multiple inflammatory states, severity of Duchenne muscular dystrophy (DMD) and muscle size in healthy young adults.	0.004267125	2015	SPP1	4	87975645	T	G
rs373286166	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32573529	C	T
rs373804251	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32310127	A	G,T
rs398122853	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	33211304	C	T
rs398123827	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31180423	G	A
rs398123828	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31180369	C	T
rs398123830	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32645101	C	A
rs398123832	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31178721	G	A
rs398123834	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31178668	C	T,G
rs398123837	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31169549	AG	-
rs398123839	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31169542	A	-
rs398123840	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32645065	C	A
rs398123852	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32644202	G	C,A
rs398123853	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32644177	G	T
rs398123854	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32644156	-	C
rs398123856	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32614442	-	CT
rs398123857	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32614414	C	-
rs398123861	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32614320	G	A
rs398123862	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32614302	C	A
rs398123863	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32595829	GA	-
rs398123865	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32573834	G	A
rs398123867	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32565808	G	T
rs398123870	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32565704	G	A
rs398123872	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32545295	G	C,A
rs398123875	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32545202	G	-
rs398123882	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32501838	ATGG	-
rs398123883	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32501803	G	A
rs398123884	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32501754	C	G
rs398123887	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32491519	C	A
rs398123888	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32491480	G	A
rs398123895	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32491352	A	-
rs398123903	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32485072	G	A
rs398123908	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32484918	C	T,A
rs398123909	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32472310	C	T
rs398123910	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32472297	A	T
rs398123913	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	33211285	A	-
rs398123923	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	33211281	C	A
rs398123929	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32468509	G	A
rs398123934	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32464585	C	T
rs398123935	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32463576	G	A
rs398123936	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32823316	C	T
rs398123937	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32463438	C	T
rs398123942	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32454685	G	A
rs398123943	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32448602	-	T
rs398123945	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32448495	C	-
rs398123946	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32448457	TCCAAAG	CC
rs398123948	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32411868	G	A
rs398123949	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32816585	TT	-
rs398123953	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32389644	G	A
rs398123957	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32389547	TT	-
rs398123961	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32386449	AG	-
rs398123962	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32386435	ACTTC	-
rs398123979	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32364609	TTTC	-
rs398123981	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32362826	G	A
rs398123993	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32343233	A	T
rs398123997	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32342249	C	A
rs398123999	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32809559	G	A
rs398124001	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32310261	C	A
rs398124002	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32310199	A	T
rs398124004	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32809527	A	T
rs398124005	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32287637	G	-
rs398124032	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32809492	C	T
rs398124036	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31929602	C	T,A
rs398124040	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31875299	-	T
rs398124042	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31836729	G	A
rs398124044	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31819974	C	T
rs398124050	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31729634	G	A
rs398124052	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31679565	C	T
rs398124053	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31679564	C	T
rs398124058	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31658123	G	A
rs398124060	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31627825	TA	-
rs398124070	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31507296	TT	-
rs398124072	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31496892	G	A
rs398124074	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31479043	G	A
rs398124075	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31478998	AG	-
rs398124078	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31478130	GA	-
rs398124080	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31348594	T	-
rs398124082	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31323659	C	G,A
rs398124091	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31261663	T	C
rs398124092	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31223071	G	A
rs398124094	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31223046	C	T,G
rs398124096	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31206668	C	T
rs398124100	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31204120	T	C
rs398124106	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31182850	C	A
rs41305353	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31478314	T	A
rs5030730	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32438372	G	A
rs72468700	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32614462	T	G,C
rs727503802	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31478363	C	A
rs727503830	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32380549	T	A
rs727503836	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32454733	C	A
rs727503844	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32468704	G	A
rs727503850	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32484967	T	A
rs727503858	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32491415	A	C
rs727503864	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32697947	G	A
rs754896795	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31875304	T	C
rs756949497	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32484925	G	T
rs762394978	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31679492	C	G
rs762860653	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32501767	G	C
rs777864641	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32348504	C	T
rs794726993	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32645020	G	A
rs794726994	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32645043	G	-
rs794727030	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32644315	T	C
rs794727097	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32595823	GTGA	-
rs794727123	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32573744	C	T
rs794727170	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32565782	G	A
rs794727322	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32491297	TT	-
rs794727323	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32491420	C	A
rs794727357	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32472311	T	A
rs794727358	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32472297	AA	-
rs794727359	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32472179	TC	-
rs794727421	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32454765	GATA	-
rs794727422	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32454730	C	A
rs794727463	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32441263	T	A
rs794727499	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32849781	G	A
rs794727550	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32390100	T	A
rs794727567	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32386461	A	-
rs794727575	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32380682	T	C
rs794727661	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32343176	T	-
rs794727666	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32342154	C	T
rs794727672	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32287581	G	-
rs794727746	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31819988	GG	-
rs794727749	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31774058	G	-
rs794727763	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31627706	G	-
rs794727770	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31478376	T	G
rs794727795	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32816570	CAGCTCAGGAGAAT	-
rs794727820	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31323606	G	C
rs794727832	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31180478	G	C
rs794727861	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32809577	G	A
rs794727862	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32809515	T	-
rs794727863	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32809570	G	C
rs794727890	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31147520	T	C
rs796065325	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	33211298	TT	A
rs796065333	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32809594	-	A
rs797044743	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31932168	-	AAAC
rs797044756	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	32823360	-	A
rs797044764	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31820036	-	A
rs797045526	NA	1756	DMD	umls:C0013264	CLINVAR	NA	0.730349803	NA	DMD	X	31965029	C	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.)