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	becker muscular dystrophy

Disease ID	424
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	ORPHANET:98895
OMIM	OMIM:300376
DOID	DOID:9883 DOID:12932
UMLS	C0917713
SNOMED-CT	SNOMEDCT_US_2016_09_01:387732009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:11) C0007193 \| dilated cardiomyopathy \| 1 C0022116 \| ischaemia \| 1 C0018801 \| heart failure \| 1 C0948265 \| metabolic syndrome \| 1 C0026850 \| muscular dystrophy \| 1 C0022116 \| ischemia \| 1 C0878544 \| cardiomyopathy \| 1 C0032326 \| pneumothorax \| 1 C1960469 \| left ventricular noncompaction \| 1 C0013338 \| growth hormone deficiency \| 1 C0013264 \| duchenne muscular dystrophy \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 1756 \| DMD \| CLINVAR;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:51) 287 \| ANK2 \| 1.442 \| DISEASES 825 \| CAPN3 \| 3.253 \| DISEASES 844 \| CASQ1 \| 1.772 \| DISEASES 859 \| CAV3 \| 1.87 \| DISEASES 10659 \| CELF2 \| 1.757 \| DISEASES 1376 \| CPT2 \| 1.008 \| DISEASES 51164 \| DCTN4 \| 2.95 \| DISEASES 1756 \| DMD \| 8.522 \| DISEASES 1760 \| DMPK \| 2.471 \| DISEASES 1785 \| DNM2 \| 4.45 \| DISEASES 1837 \| DTNA \| 2.438 \| DISEASES 1838 \| DTNB \| 2.35 \| DISEASES 8291 \| DYSF \| 3.221 \| DISEASES 133584 \| EGFLAM \| 2.216 \| DISEASES 2170 \| FABP3 \| 1.302 \| DISEASES 2280 \| FKBP1A \| 1.157 \| DISEASES 642489 \| FKBP1C \| 1.253 \| DISEASES 79147 \| FKRP \| 3.485 \| DISEASES 8880 \| FUBP1 \| 1.815 \| DISEASES 2710 \| GK \| 2.522 \| DISEASES 10020 \| GNE \| 1.908 \| DISEASES 2913 \| GRM3 \| 1.121 \| DISEASES 3109 \| HLA-DMB \| 3.022 \| DISEASES 8518 \| IKBKAP \| 3.258 \| DISEASES 26280 \| IL1RAPL2 \| 2.584 \| DISEASES 3608 \| ILF2 \| 2.064 \| DISEASES 3908 \| LAMA2 \| 3.305 \| DISEASES 4151 \| MB \| 2.096 \| DISEASES 4534 \| MTM1 \| 2.468 \| DISEASES 4637 \| MYL6 \| 2.09 \| DISEASES 4703 \| NEB \| 2.761 \| DISEASES 55035 \| NOL8 \| 3.732 \| DISEASES 4842 \| NOS1 \| 2.019 \| DISEASES 8654 \| PDE5A \| 1.462 \| DISEASES 9677 \| PPIP5K1 \| 2.096 \| DISEASES 5867 \| RAB4A \| 3.688 \| DISEASES 6261 \| RYR1 \| 1.567 \| DISEASES 6443 \| SGCB \| 2.161 \| DISEASES 6444 \| SGCD \| 1.948 \| DISEASES 83733 \| SLC25A18 \| 1.603 \| DISEASES 6430 \| SRSF5 \| 1.882 \| DISEASES 6780 \| STAU1 \| 2.157 \| DISEASES 27067 \| STAU2 \| 2.886 \| DISEASES 81493 \| SYNC \| 3.228 \| DISEASES 84000 \| TMPRSS13 \| 1.834 \| DISEASES 22954 \| TRIM32 \| 1.547 \| DISEASES 80036 \| TRPM3 \| 1.563 \| DISEASES 7247 \| TSN \| 1.48 \| DISEASES 7273 \| TTN \| 1.992 \| DISEASES 7402 \| UTRN \| 5.324 \| DISEASES 7499 \| XG \| 2.986 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) DMD \| Xp21.2-p21.1

Disease ID	424
Disease	becker muscular dystrophy
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:16) HP:0003551 \| Difficulty climbing stairs HP:0002910 \| Elevated hepatic transaminases HP:0003326 \| Myalgia HP:0012086 \| Abnormal urinary color HP:0003236 \| Elevated serum creatine phosphokinase HP:0001324 \| Muscle weakness HP:0012378 \| Fatigue HP:0002814 \| Abnormality of the lower limb HP:0001763 \| Pes planus HP:0002355 \| Difficulty walking HP:0002527 \| Falls HP:0002913 \| Myoglobinuria HP:0003394 \| Muscle cramps HP:0003546 \| Exercise intolerance HP:0003202 \| Skeletal muscle atrophy HP:0040083 \| Toe walking
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:15) HP:0003712 \| Hypertrophic muscles \| 3 HP:0030682 \| Left ventricular noncompaction \| 1 HP:0003805 \| Rimmed vacuoles \| 1 HP:0001638 \| Cardiomyopathy \| 1 HP:0005110 \| Atrial fibrillation \| 1 HP:0001635 \| Congestive heart failure \| 1 HP:0010807 \| Open bite between upper and lower teeth \| 1 HP:0002107 \| Collapsed lung \| 1 HP:0003560 \| Muscular dystrophy \| 1 HP:0000855 \| Insulin resistance \| 1 HP:0001644 \| Congestive cardiomyopathy \| 1 HP:0001695 \| Cardiac arrest \| 1 HP:0012735 \| Coughing \| 1 HP:0000824 \| Growth hormone deficiency \| 1 HP:0003307 \| Hyperlordosis \| 1

Disease ID	424
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.)

Text Mining Genotype(Total 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
rs104894787	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	31178784	G	A
rs104894791	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	31177932	G	A
rs104894797	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	31206663	G	A
rs1064325	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32345999	G	T,A
rs128626236	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32816495	G	T
rs128626237	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32699252	A	T
rs128626251	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32216981	G	A
rs128627256	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	31478330	G	A
rs146071084	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32454660	A	T
rs1800279	NA	1756	DMD	umls:C0917713	UNIPROT	NA	0.497741174	NA	DMD	X	31478281	T	C
rs1800279	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	31478281	T	C
rs199774535	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32348491	G	A,C
rs201361100	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	31478995	G	C
rs267606771	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32448611	C	A
rs370644567	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32573618	A	G
rs373286166	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32573529	C	T
rs373804251	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32310127	A	G,T
rs398122853	19793655	1756	DMD	umls:C0917713	BeFree	DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy.	0.497741174	2009	DMD	X	33211304	C	T
rs398122853	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	33211304	C	T
rs398123827	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	31180423	G	A
rs398123828	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	31180369	C	T
rs398123830	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32645101	C	A
rs398123832	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	31178721	G	A
rs398123834	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	31178668	C	T,G
rs398123837	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	31169549	AG	-
rs398123840	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32645065	C	A
rs398123852	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32644202	G	C,A
rs398123853	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32644177	G	T
rs398123854	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32644156	-	C
rs398123856	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32614442	-	CT
rs398123857	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32614414	C	-
rs398123861	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32614320	G	A
rs398123862	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32614302	C	A
rs398123863	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32595829	GA	-
rs398123865	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32573834	G	A
rs398123867	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32565808	G	T
rs398123870	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32565704	G	A
rs398123872	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32545295	G	C,A
rs398123875	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32545202	G	-
rs398123882	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32501838	ATGG	-
rs398123883	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32501803	G	A
rs398123884	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32501754	C	G
rs398123887	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32491519	C	A
rs398123888	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32491480	G	A
rs398123895	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32491352	A	-
rs398123903	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32485072	G	A
rs398123908	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32484918	C	T,A
rs398123909	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32472310	C	T
rs398123910	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32472297	A	T
rs398123913	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	33211285	A	-
rs398123923	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	33211281	C	A
rs398123934	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32464585	C	T
rs398123935	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32463576	G	A
rs398123936	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32823316	C	T
rs398123937	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32463438	C	T
rs398123942	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32454685	G	A
rs398123943	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32448602	-	T
rs398123945	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32448495	C	-
rs398123946	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32448457	TCCAAAG	CC
rs398123948	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32411868	G	A
rs398123949	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32816585	TT	-
rs398123957	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32389547	TT	-
rs398123961	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32386449	AG	-
rs398123962	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32386435	ACTTC	-
rs398123979	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32364609	TTTC	-
rs398123981	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32362826	G	A
rs398123993	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32343233	A	T
rs398123999	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32809559	G	A
rs398124001	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32310261	C	A
rs398124002	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32310199	A	T
rs398124004	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32809527	A	T
rs398124005	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32287637	G	-
rs398124032	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32809492	C	T
rs398124036	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	31929602	C	T,A
rs398124042	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	31836729	G	A
rs398124044	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	31819974	C	T
rs398124050	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	31729634	G	A
rs398124052	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	31679565	C	T
rs398124053	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	31679564	C	T
rs398124058	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	31658123	G	A
rs398124060	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	31627825	TA	-
rs398124070	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	31507296	TT	-
rs398124074	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	31479043	G	A
rs398124075	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	31478998	AG	-
rs398124078	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	31478130	GA	-
rs398124080	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	31348594	T	-
rs398124082	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	31323659	C	G,A
rs398124091	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	31261663	T	C
rs398124092	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	31223071	G	A
rs398124094	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	31223046	C	T,G
rs398124096	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	31206668	C	T
rs398124100	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	31204120	T	C
rs398124106	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	31182850	C	A
rs5030730	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32438372	G	A
rs587776747	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	31261301	T	C
rs72468700	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32614462	T	G,C
rs727503802	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	31478363	C	A
rs727503830	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32380549	T	A
rs727503836	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32454733	C	A
rs727503844	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32468704	G	A
rs727503850	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32484967	T	A
rs727503858	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32491415	A	C
rs727503864	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32697947	G	A
rs754896795	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	31875304	T	C
rs794726993	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32645020	G	A
rs794726994	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32645043	G	-
rs794727030	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32644315	T	C
rs794727097	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32595823	GTGA	-
rs794727123	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32573744	C	T
rs794727170	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32565782	G	A
rs794727322	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32491297	TT	-
rs794727357	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32472311	T	A
rs794727358	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32472297	AA	-
rs794727359	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32472179	TC	-
rs794727421	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32454765	GATA	-
rs794727422	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32454730	C	A
rs794727463	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32441263	T	A
rs794727499	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32849781	G	A
rs794727550	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32390100	T	A
rs794727567	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32386461	A	-
rs794727575	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32380682	T	C
rs794727661	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32343176	T	-
rs794727672	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32287581	G	-
rs794727746	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	31819988	GG	-
rs794727749	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	31774058	G	-
rs794727763	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	31627706	G	-
rs794727770	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	31478376	T	G
rs794727795	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32816570	CAGCTCAGGAGAAT	-
rs794727820	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	31323606	G	C
rs794727832	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	31180478	G	C
rs794727861	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32809577	G	A
rs794727862	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32809515	T	-
rs794727890	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	31147520	T	C
rs796065325	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	33211298	TT	A
rs796065333	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32809594	-	A
rs797044743	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	31932168	-	AAAC
rs797044756	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	32823360	-	A
rs797044764	NA	1756	DMD	umls:C0917713	CLINVAR	NA	0.497741174	NA	DMD	X	31820036	-	A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:5)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0002910	Elevated hepatic transaminases	MP:0002628	hepatic steatosis	an accumulation of fat deposits in the liver
HP:0001324	Muscle weakness	MP:0000746	weakness	state of being infirm or less strong than normal
HP:0003202	Skeletal muscle atrophy	MP:0014068	abnormal muscle glycogen level	the normal concentration of a readily converted carbohydrate reserve in muscle tissue
HP:0002814	Abnormality of the lower limb	MP:0004686	decreased length of long bones	reduced end-to-end length of the several elongated bones of the extremities
HP:0003236	Elevated serum creatine phosphokinase	MP:0020280	increased creatine kinase level	increased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine

Mapped by homologous gene(Total Items:15)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0003236	Elevated serum creatine phosphokinase	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0002910	Elevated hepatic transaminases	MP:0020234	decreased basal metabolism	decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state
HP:0003551	Difficulty climbing stairs	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0002913	Myoglobinuria	MP:0020280	increased creatine kinase level	increased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine
HP:0002355	Difficulty walking	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0001763	Pes planus	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0003546	Exercise intolerance	MP:0020234	decreased basal metabolism	decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state
HP:0002527	Falls	MP:0014059	abnormal photoreceptor connecting cilium morphology	any structural anomaly of the nonmotile primary cilium that has a 9+0 microtubule array and forms the portion of the axoneme traversing the boundary between the retinal photoreceptor inner and outer segments
HP:0003394	Muscle cramps	MP:0020220	decreased tear production	decreased production of the amount of fluid produced in the eye
HP:0003202	Skeletal muscle atrophy	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0002814	Abnormality of the lower limb	MP:0013616	decreased volumetric bone mineral density	reduction in the mineral mass per unit volume of bone, the hard, rigid form of connective tissue constituting most of the skeleton of vertebrates and composed chiefly of calcium salts; this is expressed as the amount of mineral per cubic cm of bone (usual
HP:0003326	Myalgia	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0001324	Muscle weakness	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0012378	Fatigue	MP:0013659	abnormal erythroid lineage cell morphology	any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes
HP:0040083	Toe walking	MP:0012129	failure of blastocyst formation	inability to form a blastocyst from a solid ball of cells known as a morula

Disease ID	424
Disease	becker muscular dystrophy
Case	(Waiting for update.)