eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine

HOME
QUERY
- DISEASE
- GENOTYPE
NETWORK
- PHENOTYPE
- GENE
- COMMON
- DISEASE PAIR
DOWNLOAD
SUBMIT CASE
HELP&FAQ
- HELP&FAQ
- CONTACT US


	cardiomyopathy, dilated, 3b

Disease ID	1460
Disease	cardiomyopathy, dilated, 3b
Synonym	benign duchenne muscular dystrophy cardiomyopathy, dilated, x-linked childhood muscular dystrophy, pseudohypertrophic childhood pseudohypertrophic muscular dystrophy dmd dmd - duchenne muscular dystrophy duchenne musc. dyst. duchenne muscular dystrophy 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	C3714570
MeSH	D020388
SNOMED-CT	SNOMEDCT_US_2016_09_01:76670001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:27) C0878544 \| cardiomyopathy \| 15 C0036439 \| scoliosis \| 14 C0025362 \| mental retardation \| 4 C0018801 \| heart failure \| 3 C0007193 \| dilated cardiomyopathy \| 2 C1145670 \| respiratory failure \| 2 C0155686 \| acute myocarditis \| 1 C0238106 \| clostridium difficile colitis \| 1 C0022116 \| ischemia \| 1 C0042373 \| vascular disease \| 1 C0018801 \| cardiac failure \| 1 C1960469 \| left ventricular noncompaction \| 1 C0011570 \| depression \| 1 C0021400 \| influenza \| 1 C0004245 \| atrioventricular block \| 1 C0018799 \| cardiac disease \| 1 C0018802 \| congestive heart failure \| 1 C0028754 \| obesity \| 1 C0009319 \| colitis \| 1 C0035309 \| retinopathy \| 1 C0029456 \| osteoporosis \| 1 C0007222 \| cardiovascular disease \| 1 C0851578 \| sleep disorders \| 1 C0027059 \| myocarditis \| 1 C0035229 \| respiratory insufficiency \| 1 C0026846 \| muscular atrophy \| 1 C0018799 \| heart disease \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:7) 8425 \| LTBP4 \| ORPHANET 7040 \| TGFB1 \| CTD_human 1756 \| DMD \| CLINVAR;CTD_human;ORPHANET;UNIPROT 4618 \| MYF6 \| CTD_human 6347 \| CCL2 \| CTD_human 920 \| CD4 \| CTD_human 10631 \| POSTN \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:10) 1756 \| DMD \| CIPHER;CTD_human 3105 \| HLA-A \| CIPHER 3106 \| HLA-B \| CIPHER 3123 \| HLA-DRB1 \| CIPHER 6696 \| SPP1 \| CIPHER 920 \| CD4 \| CTD_human 6347 \| CCL2 \| CTD_human 7040 \| TGFB1 \| CTD_human 10631 \| POSTN \| CTD_human 4618 \| MYF6 \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:178) 71 \| ACTG1 \| 2.159 \| DISEASES 88 \| ACTN2 \| 1.841 \| DISEASES 93 \| ACVR2B \| 3.577 \| DISEASES 8038 \| ADAM12 \| 1.131 \| DISEASES 375790 \| AGRN \| 3.174 \| DISEASES 203 \| AK1 \| 1.635 \| DISEASES 265 \| AMELX \| 2.398 \| DISEASES 10541 \| ANP32B \| 1.66 \| DISEASES 361 \| AQP4 \| 3.012 \| DISEASES 54829 \| ASPN \| 2.074 \| DISEASES 1388 \| ATF6B \| 2.194 \| DISEASES 487 \| ATP2A1 \| 2.532 \| DISEASES 633 \| BGN \| 2.513 \| DISEASES 664 \| BNIP3 \| 1.202 \| DISEASES 800 \| CALD1 \| 2.224 \| DISEASES 801 \| CALM1 \| 2.488 \| DISEASES 816 \| CAMK2B \| 1.598 \| DISEASES 825 \| CAPN3 \| 2.795 \| DISEASES 844 \| CASQ1 \| 3.017 \| DISEASES 831 \| CAST \| 1.431 \| DISEASES 857 \| CAV1 \| 1.053 \| DISEASES 859 \| CAV3 \| 4.099 \| DISEASES 977 \| CD151 \| 1.599 \| DISEASES 23607 \| CD2AP \| 1.147 \| DISEASES 91612 \| CHURC1 \| 1.449 \| DISEASES 548596 \| CKMT1A \| 2.68 \| DISEASES 1193 \| CLIC2 \| 1.578 \| DISEASES 1195 \| CLK1 \| 1.654 \| DISEASES 1198 \| CLK3 \| 1.626 \| DISEASES 8418 \| CMAHP \| 3.151 \| DISEASES 202333 \| CMYA5 \| 3.486 \| DISEASES 1269 \| CNR2 \| 1.729 \| DISEASES 1291 \| COL6A1 \| 1.876 \| DISEASES 57175 \| CORO1B \| 1.751 \| DISEASES 1431 \| CS \| 1.099 \| DISEASES 1471 \| CST3 \| 1.286 \| DISEASES 1490 \| CTGF \| 2.289 \| DISEASES 5476 \| CTSA \| 1.129 \| DISEASES 1536 \| CYBB \| 3.236 \| DISEASES 7919 \| DDX39B \| 1.487 \| DISEASES 1756 \| DMD \| 8.923 \| DISEASES 1760 \| DMPK \| 1.204 \| DISEASES 3300 \| DNAJB2 \| 1.432 \| DISEASES 1785 \| DNM2 \| 6.137 \| DISEASES 26052 \| DNM3 \| 1.083 \| DISEASES 1821 \| DRP2 \| 2.391 \| DISEASES 1837 \| DTNA \| 4.12 \| DISEASES 1838 \| DTNB \| 4.477 \| DISEASES 84062 \| DTNBP1 \| 1.92 \| DISEASES 6990 \| DYNLT3 \| 1.689 \| DISEASES 8291 \| DYSF \| 4.046 \| DISEASES 2010 \| EMD \| 1.581 \| DISEASES 2027 \| ENO3 \| 2.03 \| DISEASES 474383 \| F8A2 \| 1.463 \| DISEASES 474384 \| F8A3 \| 1.645 \| DISEASES 54751 \| FBLIM1 \| 1.299 \| DISEASES 80204 \| FBXO11 \| 1.05 \| DISEASES 114907 \| FBXO32 \| 2.398 \| DISEASES 2280 \| FKBP1A \| 1.709 \| DISEASES 79147 \| FKRP \| 2.003 \| DISEASES 96459 \| FNIP1 \| 2.29 \| DISEASES 2308 \| FOXO1 \| 1.053 \| DISEASES 2628 \| GATM \| 1.075 \| DISEASES 2710 \| GK \| 3.847 \| DISEASES 10243 \| GPHN \| 1.881 \| DISEASES 3066 \| HDAC2 \| 1.364 \| DISEASES 3109 \| HLA-DMB \| 2.115 \| DISEASES 3178 \| HNRNPA1 \| 1.442 \| DISEASES 3339 \| HSPG2 \| 1.158 \| DISEASES 3347 \| HTN3 \| 1.048 \| DISEASES 23308 \| ICOSLG \| 1.142 \| DISEASES 2537 \| IFI6 \| 1.038 \| DISEASES 8518 \| IKBKAP \| 3.273 \| DISEASES 8517 \| IKBKG \| 2.322 \| DISEASES 3608 \| ILF2 \| 1.157 \| DISEASES 3679 \| ITGA7 \| 2.493 \| DISEASES 3710 \| ITPR3 \| 2.205 \| DISEASES 80333 \| KCNIP4 \| 1.055 \| DISEASES 3766 \| KCNJ10 \| 1.512 \| DISEASES 3768 \| KCNJ12 \| 1.081 \| DISEASES 283518 \| KCNRG \| 1.417 \| DISEASES 3792 \| KEL \| 2.067 \| DISEASES 8570 \| KHSRP \| 1.766 \| DISEASES 3908 \| LAMA2 \| 3.804 \| DISEASES 101241891 \| LINC00850 \| 2.999 \| DISEASES 4000 \| LMNA \| 1.044 \| DISEASES 987 \| LRBA \| 1.382 \| DISEASES 2011 \| MARK2 \| 1.074 \| DISEASES 4151 \| MB \| 3.889 \| DISEASES 55796 \| MBNL3 \| 1.458 \| DISEASES 4208 \| MEF2C \| 1.436 \| DISEASES 8076 \| MFAP5 \| 1.216 \| DISEASES 4318 \| MMP9 \| 2.516 \| DISEASES 136319 \| MTPN \| 1.165 \| DISEASES 4548 \| MTR \| 1.629 \| DISEASES 4604 \| MYBPC1 \| 1.351 \| DISEASES 4624 \| MYH6 \| 1.32 \| DISEASES 4625 \| MYH7 \| 1.184 \| DISEASES 4637 \| MYL6 \| 2.097 \| DISEASES 93649 \| MYOCD \| 1.128 \| DISEASES 127294 \| MYOM3 \| 3.718 \| DISEASES 4703 \| NEB \| 3.961 \| DISEASES 10763 \| NES \| 1.765 \| DISEASES 4803 \| NGF \| 1.044 \| DISEASES 55035 \| NOL8 \| 2.825 \| DISEASES 4842 \| NOS1 \| 3.418 \| DISEASES 9722 \| NOS1AP \| 1.529 \| DISEASES 4879 \| NPPB \| 1.13 \| DISEASES 190 \| NR0B1 \| 3.43 \| DISEASES 8204 \| NRIP1 \| 1.86 \| DISEASES 84033 \| OBSCN \| 2.033 \| DISEASES 5025 \| P2RX4 \| 1.411 \| DISEASES 9127 \| P2RX6 \| 1.889 \| DISEASES 5027 \| P2RX7 \| 2.266 \| DISEASES 5077 \| PAX3 \| 1.859 \| DISEASES 5081 \| PAX7 \| 4.467 \| DISEASES 8654 \| PDE5A \| 2.434 \| DISEASES 5178 \| PEG3 \| 1.484 \| DISEASES 441531 \| PGAM4 \| 1.278 \| DISEASES 5225 \| PGC \| 1.029 \| DISEASES 5239 \| PGM5 \| 2.266 \| DISEASES 55361 \| PI4K2A \| 1.396 \| DISEASES 5339 \| PLEC \| 2.071 \| DISEASES 10631 \| POSTN \| 1.597 \| DISEASES 9677 \| PPIP5K1 \| 1.189 \| DISEASES 5532 \| PPP3CB \| 1.098 \| DISEASES 5549 \| PRELP \| 2.45 \| DISEASES 8842 \| PROM1 \| 2.085 \| DISEASES 5788 \| PTPRC \| 1.492 \| DISEASES 51651 \| PTRH2 \| 1.296 \| DISEASES 5867 \| RAB4A \| 1.427 \| DISEASES 6007 \| RHD \| 1.36 \| DISEASES 6103 \| RPGR \| 2.083 \| DISEASES 6261 \| RYR1 \| 3.227 \| DISEASES 6262 \| RYR2 \| 2.079 \| DISEASES 26278 \| SACS \| 1.032 \| DISEASES 23034 \| SAMD4A \| 1.762 \| DISEASES 6906 \| SERPINA7 \| 1.132 \| DISEASES 6443 \| SGCB \| 2.851 \| DISEASES 6444 \| SGCD \| 4.757 \| DISEASES 10572 \| SIVA1 \| 1.055 \| DISEASES 6533 \| SLC6A6 \| 1.474 \| DISEASES 6602 \| SMARCD1 \| 2.46 \| DISEASES 6603 \| SMARCD2 \| 1.933 \| DISEASES 23347 \| SMCHD1 \| 1.102 \| DISEASES 6606 \| SMN1 \| 1.384 \| DISEASES 6607 \| SMN2 \| 1.142 \| DISEASES 6641 \| SNTB1 \| 3.935 \| DISEASES 6645 \| SNTB2 \| 2.575 \| DISEASES 54212 \| SNTG1 \| 1.947 \| DISEASES 6696 \| SPP1 \| 3.023 \| DISEASES 6345 \| SRL \| 2.925 \| DISEASES 8406 \| SRPX \| 1.568 \| DISEASES 6736 \| SRY \| 2.443 \| DISEASES 6780 \| STAU1 \| 1.25 \| DISEASES 27067 \| STAU2 \| 1.979 \| DISEASES 23353 \| SUN1 \| 1.31 \| DISEASES 25777 \| SUN2 \| 1.227 \| DISEASES 81493 \| SYNC \| 2.276 \| DISEASES 23345 \| SYNE1 \| 1.276 \| DISEASES 23336 \| SYNM \| 2.112 \| DISEASES 56849 \| TCEAL7 \| 1.879 \| DISEASES 7060 \| THBS4 \| 2.308 \| DISEASES 219623 \| TMEM26 \| 1.472 \| DISEASES 84000 \| TMPRSS13 \| 1.016 \| DISEASES 7114 \| TMSB4X \| 1.539 \| DISEASES 7124 \| TNF \| 1.649 \| DISEASES 7137 \| TNNI3 \| 1.924 \| DISEASES 7139 \| TNNT2 \| 1.293 \| DISEASES 89882 \| TPD52L3 \| 1.194 \| DISEASES 7222 \| TRPC3 \| 1.256 \| DISEASES 7225 \| TRPC6 \| 1.24 \| DISEASES 51393 \| TRPV2 \| 2.728 \| DISEASES 7273 \| TTN \| 3.437 \| DISEASES 7402 \| UTRN \| 7.829 \| DISEASES 7422 \| VEGFA \| 1.384 \| DISEASES 7499 \| XG \| 2.639 \| DISEASES 7504 \| XK \| 1.681 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1460
Disease	cardiomyopathy, dilated, 3b
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:1) HP:0001644 \| Congestive cardiomyopathy
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:39) HP:0001638 \| Cardiomyopathy \| 15 HP:0002650 \| Scoliosis \| 14 HP:0001635 \| Congestive heart failure \| 4 HP:0001249 \| Mental retardation \| 4 HP:0001324 \| Muscular weakness \| 4 HP:0002015 \| Swallowing difficulty \| 3 HP:0000969 \| Dropsy \| 2 HP:0001644 \| Congestive cardiomyopathy \| 2 HP:0003201 \| Rhabdomyolysis \| 2 HP:0002878 \| Respiratory failure \| 2 HP:0006698 \| Ventricular aneurysm \| 2 HP:0000823 \| Pubertal delay \| 2 HP:0100543 \| Cognitive deficits \| 2 HP:0002617 \| Aneurysmal dilatation \| 2 HP:0003323 \| Muscle weakness, progressive \| 2 HP:0004308 \| Ventricular arrhythmia \| 2 HP:0003202 \| Neurogenic muscle atrophy, especially in the lower limbs \| 2 HP:0011675 \| Arrhythmias \| 2 HP:0001685 \| Myocardial fibrosis \| 1 HP:0001678 \| Atrioventricular block \| 1 HP:0001289 \| Confusion \| 1 HP:0000939 \| Osteoporosis \| 1 HP:0000202 \| Oral clefting \| 1 HP:0001513 \| Obesity \| 1 HP:0002583 \| Colitis \| 1 HP:0002597 \| Abnormality of blood vessels \| 1 HP:0002792 \| Decreased vital capacity \| 1 HP:0000708 \| Behavioral problems \| 1 HP:0000062 \| Ambiguous external genitalia \| 1 HP:0002615 \| Low blood pressure \| 1 HP:0000716 \| Depression \| 1 HP:0003552 \| Muscle stiffness \| 1 HP:0000488 \| Noninflammatory retina disease \| 1 HP:0010864 \| Early and severe mental retardation \| 1 HP:0030682 \| Left ventricular noncompaction \| 1 HP:0012819 \| Myocarditis \| 1 HP:0001907 \| Thromboembolic disease \| 1 HP:0003287 \| Abnormality of mitochondrial metabolism \| 1 HP:0012340 \| Decreased resting energy expenditure \| 1

Disease ID	1460
Disease	cardiomyopathy, dilated, 3b
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:15) C0036439 \| scoliosis \| 14 C0878544 \| cardiomyopathy \| 14 C0004093 \| weakness \| 4 C0025362 \| mental retardation \| 4 C0018801 \| heart failure \| 3 C0011168 \| dysphagia \| 3 C0007193 \| dilated cardiomyopathy \| 2 C1145670 \| respiratory failure \| 2 C0234958 \| muscle degeneration \| 1 C1260922 \| breathing disorder \| 1 C0018799 \| cardiac disease \| 1 C0029456 \| osteoporosis \| 1 C0013922 \| embolism \| 1 C0151517 \| complete atrioventricular block \| 1 C0018802 \| congestive heart failure \| 1

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

Text Mining Genotype(Total 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:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001644	Dilated cardiomyopathy	MP:0005330	cardiomyopathy	diseases of the heart (myocardium); may result from many causes

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001644	Dilated cardiomyopathy	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue

Disease ID	1460
Disease	cardiomyopathy, dilated, 3b
Case	(Waiting for update.)