CleftGeneDB-Search

Gene: DMD

Basic information

Tag	Content
Uniprot ID	P11532; A1L0U9; E7EQR9; E7EQS5; E7ESB2; E9PDN1; E9PDN5; F5GZY3; F8VX32; Q02295; Q14169; Q14170; Q5JYU0; Q6NSJ9; Q7KZ48; Q8N754; Q9UCW3; Q9UCW4;
Entrez ID	1756
Genbank protein ID	AAA53189.1; AAA52316.1; CAA31454.1; CAA31451.1; CAI42225.1; CAA29544.1; AAH94758.1; CAI42991.1; AAH70078.1; CAA33245.1; AAH28720.1; CAA32479.1; CAA29545.1; AAI27104.2; AAA86115.1; CAA31452.1; CAI42229.1; EAW99065.1; CAI43058.1; CAA33518.1; CAI39566.1; AAA86116.1; CAA31453.1; CAA38589.1; CAI42950.1;
Genbank nucleotide ID	NM_004015.2; NM_004019.2; NM_004021.2; NM_004016.2; NM_004014.2; NM_004020.3; NM_004010.3; NM_004018.2; NM_004009.3; NM_004022.2; NM_004023.2; NM_000109.3; NM_004012.3; NM_004017.2; NM_004006.2; NM_004011.3; NM_004013.2;
Ensembl protein ID	ENSP00000354464; ENSP00000367974; ENSP00000367997; ENSP00000367951;
Ensembl nucleotide ID	ENSG00000198947
Gene name	Dystrophin
Gene symbol	DMD
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type	CL/P
Developmental stage
Data sources	Manually collected
Reference	26331285
Functional description	Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission.
Sequence	MLWWEEVEDC YEREDVQKKT FTKWVNAQFS KFGKQHIENL FSDLQDGRRL LDLLEGLTGQ 60 KLPKEKGSTR VHALNNVNKA LRVLQNNNVD LVNIGSTDIV DGNHKLTLGL IWNIILHWQV 120 KNVMKNIMAG LQQTNSEKIL LSWVRQSTRN YPQVNVINFT TSWSDGLALN ALIHSHRPDL 180 FDWNSVVCQQ SATQRLEHAF NIARYQLGIE KLLDPEDVDT TYPDKKSILM YITSLFQVLP 240 QQVSIEAIQE VEMLPRPPKV TKEEHFQLHH QMHYSQQITV SLAQGYERTS SPKPRFKSYA 300 YTQAAYVTTS DPTRSPFPSQ HLEAPEDKSF GSSLMESEVN LDRYQTALEE VLSWLLSAED 360 TLQAQGEISN DVEVVKDQFH THEGYMMDLT AHQGRVGNIL QLGSKLIGTG KLSEDEETEV 420 QEQMNLLNSR WECLRVASME KQSNLHRVLM DLQNQKLKEL NDWLTKTEER TRKMEEEPLG 480 PDLEDLKRQV QQHKVLQEDL EQEQVRVNSL THMVVVVDES SGDHATAALE EQLKVLGDRW 540 ANICRWTEDR WVLLQDILLK WQRLTEEQCL FSAWLSEKED AVNKIHTTGF KDQNEMLSSL 600 QKLAVLKADL EKKKQSMGKL YSLKQDLLST LKNKSVTQKT EAWLDNFARC WDNLVQKLEK 660 STAQISQAVT TTQPSLTQTT VMETVTTVTT REQILVKHAQ EELPPPPPQK KRQITVDSEI 720 RKRLDVDITE LHSWITRSEA VLQSPEFAIF RKEGNFSDLK EKVNAIEREK AEKFRKLQDA 780 SRSAQALVEQ MVNEGVNADS IKQASEQLNS RWIEFCQLLS ERLNWLEYQN NIIAFYNQLQ 840 QLEQMTTTAE NWLKIQPTTP SEPTAIKSQL KICKDEVNRL SDLQPQIERL KIQSIALKEK 900 GQGPMFLDAD FVAFTNHFKQ VFSDVQAREK ELQTIFDTLP PMRYQETMSA IRTWVQQSET 960 KLSIPQLSVT DYEIMEQRLG ELQALQSSLQ EQQSGLYYLS TTVKEMSKKA PSEISRKYQS 1020 EFEEIEGRWK KLSSQLVEHC QKLEEQMNKL RKIQNHIQTL KKWMAEVDVF LKEEWPALGD 1080 SEILKKQLKQ CRLLVSDIQT IQPSLNSVNE GGQKIKNEAE PEFASRLETE LKELNTQWDH 1140 MCQQVYARKE ALKGGLEKTV SLQKDLSEMH EWMTQAEEEY LERDFEYKTP DELQKAVEEM 1200 KRAKEEAQQK EAKVKLLTES VNSVIAQAPP VAQEALKKEL ETLTTNYQWL CTRLNGKCKT 1260 LEEVWACWHE LLSYLEKANK WLNEVEFKLK TTENIPGGAE EISEVLDSLE NLMRHSEDNP 1320 NQIRILAQTL TDGGVMDELI NEELETFNSR WRELHEEAVR RQKLLEQSIQ SAQETEKSLH 1380 LIQESLTFID KQLAAYIADK VDAAQMPQEA QKIQSDLTSH EISLEEMKKH NQGKEAAQRV 1440 LSQIDVAQKK LQDVSMKFRL FQKPANFEQR LQESKMILDE VKMHLPALET KSVEQEVVQS 1500 QLNHCVNLYK SLSEVKSEVE MVIKTGRQIV QKKQTENPKE LDERVTALKL HYNELGAKVT 1560 ERKQQLEKCL KLSRKMRKEM NVLTEWLAAT DMELTKRSAV EGMPSNLDSE VAWGKATQKE 1620 IEKQKVHLKS ITEVGEALKT VLGKKETLVE DKLSLLNSNW IAVTSRAEEW LNLLLEYQKH 1680 METFDQNVDH ITKWIIQADT LLDESEKKKP QQKEDVLKRL KAELNDIRPK VDSTRDQAAN 1740 LMANRGDHCR KLVEPQISEL NHRFAAISHR IKTGKASIPL KELEQFNSDI QKLLEPLEAE 1800 IQQGVNLKEE DFNKDMNEDN EGTVKELLQR GDNLQQRITD ERKREEIKIK QQLLQTKHNA 1860 LKDLRSQRRK KALEISHQWY QYKRQADDLL KCLDDIEKKL ASLPEPRDER KIKEIDRELQ 1920 KKKEELNAVR RQAEGLSEDG AAMAVEPTQI QLSKRWREIE SKFAQFRRLN FAQIHTVREE 1980 TMMVMTEDMP LEISYVPSTY LTEITHVSQA LLEVEQLLNA PDLCAKDFED LFKQEESLKN 2040 IKDSLQQSSG RIDIIHSKKT AALQSATPVE RVKLQEALSQ LDFQWEKVNK MYKDRQGRFD 2100 RSVEKWRRFH YDIKIFNQWL TEAEQFLRKT QIPENWEHAK YKWYLKELQD GIGQRQTVVR 2160 TLNATGEEII QQSSKTDASI LQEKLGSLNL RWQEVCKQLS DRKKRLEEQK NILSEFQRDL 2220 NEFVLWLEEA DNIASIPLEP GKEQQLKEKL EQVKLLVEEL PLRQGILKQL NETGGPVLVS 2280 APISPEEQDK LENKLKQTNL QWIKVSRALP EKQGEIEAQI KDLGQLEKKL EDLEEQLNHL 2340 LLWLSPIRNQ LEIYNQPNQE GPFDVKETEI AVQAKQPDVE EILSKGQHLY KEKPATQPVK 2400 RKLEDLSSEW KAVNRLLQEL RAKQPDLAPG LTTIGASPTQ TVTLVTQPVV TKETAISKLE 2460 MPSSLMLEVP ALADFNRAWT ELTDWLSLLD QVIKSQRVMV GDLEDINEMI IKQKATMQDL 2520 EQRRPQLEEL ITAAQNLKNK TSNQEARTII TDRIERIQNQ WDEVQEHLQN RRQQLNEMLK 2580 DSTQWLEAKE EAEQVLGQAR AKLESWKEGP YTVDAIQKKI TETKQLAKDL RQWQTNVDVA 2640 NDLALKLLRD YSADDTRKVH MITENINASW RSIHKRVSER EAALEETHRL LQQFPLDLEK 2700 FLAWLTEAET TANVLQDATR KERLLEDSKG VKELMKQWQD LQGEIEAHTD VYHNLDENSQ 2760 KILRSLEGSD DAVLLQRRLD NMNFKWSELR KKSLNIRSHL EASSDQWKRL HLSLQELLVW 2820 LQLKDDELSR QAPIGGDFPA VQKQNDVHRA FKRELKTKEP VIMSTLETVR IFLTEQPLEG 2880 LEKLYQEPRE LPPEERAQNV TRLLRKQAEE VNTEWEKLNL HSADWQRKID ETLERLQELQ 2940 EATDELDLKL RQAEVIKGSW QPVGDLLIDS LQDHLEKVKA LRGEIAPLKE NVSHVNDLAR 3000 QLTTLGIQLS PYNLSTLEDL NTRWKLLQVA VEDRVRQLHE AHRDFGPASQ HFLSTSVQGP 3060 WERAISPNKV PYYINHETQT TCWDHPKMTE LYQSLADLNN VRFSAYRTAM KLRRLQKALC 3120 LDLLSLSAAC DALDQHNLKQ NDQPMDILQI INCLTTIYDR LEQEHNNLVN VPLCVDMCLN 3180 WLLNVYDTGR TGRIRVLSFK TGIISLCKAH LEDKYRYLFK QVASSTGFCD QRRLGLLLHD 3240 SIQIPRQLGE VASFGGSNIE PSVRSCFQFA NNKPEIEAAL FLDWMRLEPQ SMVWLPVLHR 3300 VAAAETAKHQ AKCNICKECP IIGFRYRSLK HFNYDICQSC FFSGRVAKGH KMHYPMVEYC 3360 TPTTSGEDVR DFAKVLKNKF RTKRYFAKHP RMGYLPVQTV LEGDNMETPV TLINFWPVDS 3420 APASSPQLSH DDTHSRIEHY ASRLAEMENS NGSYLNDSIS PNESIDDEHL LIQHYCQSLN 3480 QDSPLSQPRS PAQILISLES EERGELERIL ADLEEENRNL QAEYDRLKQQ HEHKGLSPLP 3540 SPPEMMPTSP QSPRDAELIA EAKLLRQHKG RLEARMQILE DHNKQLESQL HRLRQLLEQP 3600 QAEAKVNGTT VSSPSTSLQR SDSSQPMLLR VVGSQTSDSM GEEDLLSPPQ DTSTGLEEVM 3660 EQLNNSFPSS RGRNTPGKPM REDTM 3685

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
1DXX
1EG3
1EG4
3UUN
1DXX
1EG3
1EG4

Protein disorder information

Orthologous information

There is no orthologous record for this gene !

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
DMD	rs5928207	Genotyping	23489894
DMD	rs5928208	Genotyping	23489894
DMD	rs6631759	Genotyping	23489894
DMD	rs5971698	Genotyping	23489894
DMD	rs5928214	Genotyping	23489894
DMD	rs5972815	Genotyping	23489894

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
VAR_023537	p.Lys18Asn	Missense	Cardiomyopathy, dilated, X-linked 3B (CMD3B) [MIM:302045]	-	UniProt
VAR_005146	p.Phe32_Leu62del	inframe_deletion	Becker muscular dystrophy (BMD) [MIM:300376]	-	UniProt
VAR_005147	p.Leu54Arg	Missense	Duchenne muscular dystrophy (DMD) [MIM:310200]	-	UniProt
VAR_065764	p.Trp118Arg	Missense	-	-	UniProt
VAR_023538	p.Asp165Val	Missense	-	-	UniProt
VAR_005149	p.Ala168Asp	Missense	Becker muscular dystrophy (BMD) [MIM:300376]	-	UniProt
VAR_023539	p.Ala171Pro	Missense	Becker muscular dystrophy (BMD) [MIM:300376]	-	UniProt
VAR_005150	p.Tyr231Asn	Missense	Becker muscular dystrophy (BMD) [MIM:300376]	-	UniProt
VAR_023540	p.Thr279Ala	Missense	Cardiomyopathy, dilated, X-linked 3B (CMD3B) [MIM:302045]	-	UniProt
VAR_036353	p.Leu334Phe	Missense	-	-	UniProt
rs34155804	p.Thr409Ser	missense variant	-	NC_000023.11:g.32644238T>A	UniProt,dbSNP
VAR_057642	p.Thr409Ser	missense variant	-	NC_000023.11:g.32644238T>A	UniProt
VAR_005152	p.Val495_Lys534del	inframe_deletion	Becker muscular dystrophy (BMD) [MIM:300376]	-	UniProt
VAR_023541	p.Asp645Gly	Missense	Duchenne muscular dystrophy (DMD) [MIM:310200]	-	UniProt
rs34563188	p.Ser666Leu	missense variant	-	NC_000023.11:g.32545330G>A	UniProt,dbSNP
VAR_062110	p.Ser666Leu	missense variant	-	NC_000023.11:g.32545330G>A	UniProt
VAR_005154	p.Lys773Glu	Missense	Duchenne muscular dystrophy (DMD) [MIM:310200]	-	UniProt
rs228406	p.Asp882Gly	missense variant	-	NC_000023.11:g.32485077T>C	UniProt,dbSNP
VAR_005156	p.Asp882Gly	missense variant	-	NC_000023.11:g.32485077T>C	UniProt
rs3827462	p.Thr1136Ser	missense variant	-	NC_000023.11:g.32463465T>A	UniProt,dbSNP
VAR_057645	p.Thr1136Ser	missense variant	-	NC_000023.11:g.32463465T>A	UniProt
VAR_036354	p.Glu1219Gln	Missense	-	-	UniProt
rs1057872	p.Gln1469Leu	missense variant	-	NC_000023.11:g.32389613T>A	UniProt,dbSNP
VAR_005161	p.Gln1469Leu	missense variant	-	NC_000023.11:g.32389613T>A	UniProt
VAR_036355	p.Arg1470His	Missense	-	-	UniProt
VAR_036356	p.Ala2164Val	Missense	-	-	UniProt
VAR_005165	p.Arg2191Trp	Missense	-	-	UniProt
VAR_023543	p.Asn2299Thr	Missense	-	-	UniProt
VAR_005166	p.Val2305_Lys2366del	inframe_deletion	Duchenne muscular dystrophy (DMD) [MIM:310200]	-	UniProt
rs41305353	p.Glu2910Val	missense variant	-	NC_000023.11:g.31478314T>A	UniProt,dbSNP
VAR_005168	p.Glu2910Val	missense variant	-	NC_000023.11:g.31478314T>A	UniProt
VAR_023544	p.Phe3228Leu	Missense	Cardiomyopathy, dilated, X-linked 3B (CMD3B) [MIM:302045]	-	UniProt
VAR_023545	p.Cys3313Phe	Missense	Duchenne muscular dystrophy (DMD) [MIM:310200]	-	UniProt
VAR_023546	p.Asp3335His	Missense	Duchenne muscular dystrophy (DMD) [MIM:310200]	-	UniProt
VAR_023547	p.Cys3340Tyr	Missense	Duchenne muscular dystrophy (DMD) [MIM:310200]	-	UniProt
VAR_005172	p.Ala3421Val	Missense	Becker muscular dystrophy (BMD) [MIM:300376]	-	UniProt

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0001787	Osteoporosis, Age-Related	disease	BEFREE
C0002395	Alzheimer's Disease	disease	BEFREE
C0002726	Amyloidosis	disease	BEFREE
C0003811	Cardiac Arrhythmia	phenotype	HPO
C0003850	Arteriosclerosis	disease	BEFREE
C0003886	Arthrogryposis	disease	GENOMICS_ENGLAND
C0004153	Atherosclerosis	disease	BEFREE
C0004352	Autistic Disorder	group	BEFREE
C0004936	Mental disorders	group	BEFREE
C0005745	Blepharoptosis	disease	CLINVAR
C0005940	Bone Diseases	group	BEFREE
C0006118	Brain Neoplasms	group	LHGDN
C0006142	Malignant neoplasm of breast	disease	UNIPROT
C0006663	Calcinosis	phenotype	CTD_human
C0007193	Cardiomyopathy, Dilated	group	BEFREE;CTD_human;GENOMICS_ENGLAND;HPO;LHGDN;RGD
C0007570	Celiac Disease	disease	BEFREE
C0007959	Charcot-Marie-Tooth Disease	disease	GENOMICS_ENGLAND
C0009241	Cognition Disorders	group	BEFREE
C0009691	Congenital cataract	disease	BEFREE
C0009917	Contracture	group	BEFREE;HPO
C0009918	Contracture of joint	phenotype	HPO
C0010674	Cystic Fibrosis	disease	BEFREE
C0011633	Dermatomyositis	disease	BEFREE
C0011847	Diabetes	disease	BEFREE
C0011849	Diabetes Mellitus	group	BEFREE
C0011860	Diabetes Mellitus, Non-Insulin-Dependent	disease	BEFREE
C0013264	Muscular Dystrophy, Duchenne	disease	BEFREE;CLINVAR;CTD_human;LHGDN;MGD;ORPHANET;RGD;UNIPROT
C0013336	Dwarfism	disease	BEFREE
C0014130	Endocrine System Diseases	group	BEFREE
C0014378	Enterovirus Infections	group	BEFREE
C0014544	Epilepsy	disease	BEFREE
C0015230	Exanthema	phenotype	BEFREE
C0015397	Disorder of eye	group	BEFREE
C0015672	Fatigue	phenotype	HPO
C0016667	Fragile X Syndrome	disease	BEFREE
C0016952	Galactosemias	disease	BEFREE
C0017547	Gigantism	disease	BEFREE
C0017638	Glioma	disease	BEFREE
C0018203	Chronic granulomatous disease	group	BEFREE
C0018799	Heart Diseases	group	BEFREE
C0018800	Cardiomegaly	phenotype	CTD_human
C0018801	Heart failure	disease	BEFREE;HPO
C0018802	Congestive heart failure	disease	BEFREE;HPO
C0018817	Atrial Septal Defects	group	CLINVAR
C0019202	Hepatolenticular Degeneration	disease	BEFREE
C0019247	Hereditary Diseases	group	BEFREE
C0020179	Huntington Disease	disease	BEFREE
C0020538	Hypertensive disease	group	BEFREE
C0020757	Ichthyoses	disease	BEFREE
C0020758	Congenital ichthyosis	disease	BEFREE
C0021051	Immunologic Deficiency Syndromes	group	BEFREE
C0022821	Kyphosis deformity of spine	phenotype	BEFREE
C0023012	Language Delay	phenotype	HPO
C0023269	leiomyosarcoma	disease	CTD_human
C0023434	Chronic Lymphocytic Leukemia	disease	LHGDN
C0024003	Lordosis	phenotype	HPO
C0024591	Malignant hyperpyrexia due to anesthesia	disease	BEFREE
C0025202	melanoma	disease	BEFREE;LHGDN
C0025362	Mental Retardation	disease	BEFREE;HPO
C0026106	Mild Mental Retardation	disease	HPO
C0026821	Muscle Cramp	phenotype	BEFREE;CLINVAR;HPO
C0026837	Muscle Rigidity	phenotype	BEFREE
C0026846	Muscular Atrophy	phenotype	RGD
C0026847	Spinal Muscular Atrophy	disease	BEFREE
C0026848	Myopathy	group	BEFREE;CLINVAR
C0026850	Muscular Dystrophy	disease	BEFREE;CTD_human;HPO;LHGDN
C0026851	Muscular Dystrophy, Animal	disease	CTD_human
C0027080	Myoglobinuria	phenotype	HPO
C0027121	Myositis	disease	BEFREE
C0027126	Myotonic Dystrophy	disease	BEFREE;LHGDN
C0027540	Necrosis	phenotype	CTD_human
C0027626	Neoplasm Invasiveness	phenotype	CTD_human
C0027627	Neoplasm Metastasis	phenotype	BEFREE;CTD_human
C0027809	Neurilemmoma	disease	BEFREE
C0027868	Neuromuscular Diseases	group	BEFREE;LHGDN
C0029401	Osteitis Deformans	disease	BEFREE
C0029434	Osteogenesis Imperfecta	disease	BEFREE
C0029453	Osteopenia	disease	BEFREE
C0029454	Osteopetrosis	disease	BEFREE
C0029456	Osteoporosis	disease	BEFREE
C0029458	Osteoporosis, Postmenopausal	disease	BEFREE
C0029464	Osteosclerosis	disease	BEFREE
C0030552	Paresis	phenotype	BEFREE
C0032460	Polycystic Ovary Syndrome	disease	CTD_human
C0032897	Prader-Willi Syndrome	disease	BEFREE
C0033141	Cardiomyopathies, Primary	group	CTD_human
C0034013	Precocious Puberty	disease	BEFREE
C0035229	Respiratory Insufficiency	phenotype	HPO
C0035304	Retinal Degeneration	phenotype	RGD
C0035410	Rhabdomyolysis	phenotype	GENOMICS_ENGLAND
C0035412	Rhabdomyosarcoma	disease	BEFREE
C0036341	Schizophrenia	disease	BEFREE
C0036529	Myocardial Diseases, Secondary	group	BEFREE;CTD_human
C0036857	Severe mental retardation (I.Q. 20-34)	disease	BEFREE
C0037932	Curvature of spine	phenotype	HPO
C0038220	Status Epilepticus	disease	CTD_human;RGD
C0039223	Tabes Dorsalis	disease	BEFREE
C0039494	Temporomandibular Joint Disorders	group	GWASCAT
C0039685	Tetralogy of Fallot	disease	BEFREE
C0041408	Turner Syndrome	disease	BEFREE
C0042373	Vascular Diseases	group	BEFREE
C0042769	Virus Diseases	group	BEFREE
C0043046	Wasting Syndrome	disease	BEFREE
C0079588	Ichthyosis, X-Linked	disease	BEFREE
C0085215	Ovarian Failure, Premature	disease	BEFREE
C0085639	Falls	phenotype	HPO
C0085655	Polymyositis	disease	BEFREE
C0086565	Liver Dysfunction	phenotype	HPO
C0086942	Rous Sarcoma	disease	BEFREE
C0149721	Left Ventricular Hypertrophy	disease	BEFREE
C0151576	Elevated creatine kinase	phenotype	HPO
C0151744	Myocardial Ischemia	disease	BEFREE
C0151766	Liver function tests abnormal finding	phenotype	HPO
C0151786	Muscle Weakness	phenotype	BEFREE;CLINVAR;CTD_human;HPO
C0152439	Retinoschisis	disease	BEFREE
C0155626	Acute myocardial infarction	disease	BEFREE
C0155686	Acute myocarditis	disease	BEFREE
C0178874	Tumor Progression	phenotype	BEFREE
C0205815	Leiomyosarcoma, Epithelioid	disease	CTD_human
C0205816	Leiomyosarcoma, Myxoid	disease	CTD_human
C0206656	Embryonal Rhabdomyosarcoma	disease	BEFREE;CTD_human
C0221056	Adult type dermatomyositis	disease	BEFREE
C0221629	Proximal muscle weakness	phenotype	HPO
C0231528	Myalgia	phenotype	BEFREE;HPO
C0231712	Waddling gait	phenotype	HPO
C0233514	Abnormal behavior	phenotype	BEFREE
C0233715	Speech impairment	phenotype	HPO
C0234182	Gowers sign	phenotype	HPO
C0234958	Muscle degeneration	disease	BEFREE;HPO
C0235063	Respiratory Depression	phenotype	HPO
C0235394	Wasting	disease	BEFREE
C0235974	Pancreatic carcinoma	disease	BEFREE
C0235996	Elevated liver enzymes	phenotype	HPO
C0238198	Gastrointestinal Stromal Tumors	group	BEFREE;CTD_human
C0238288	Muscular Dystrophy, Facioscapulohumeral	disease	BEFREE;LHGDN
C0239067	Difficulty walking up stairs	phenotype	HPO
C0239337	Deformity of limb	group	BEFREE
C0240421	Progressive muscle weakness	phenotype	HPO
C0241005	Creatine phosphokinase serum increased	phenotype	CLINVAR;HPO
C0241210	Speech Delay	phenotype	HPO
C0242526	Gonadal Dysgenesis, 45,X	disease	BEFREE
C0242973	Ventricular Dysfunction	phenotype	CTD_human
C0263628	Tumoral calcinosis	disease	CTD_human
C0264886	Conduction disorder of the heart	group	GENOMICS_ENGLAND
C0265673	Congenital kyphosis	disease	BEFREE
C0268151	Classical galactosemia	disease	BEFREE
C0268418	Deficiency of glycerol kinase	disease	BEFREE
C0268450	Gitelman Syndrome	disease	BEFREE
C0268505	Ocular albinism, type II	disease	BEFREE
C0268542	Ornithine carbamoyltransferase deficiency	disease	BEFREE
C0270823	Petit mal status	disease	CTD_human
C0270922	Peripheral demyelinating neuropathy	disease	BEFREE
C0270948	Neurogenic Muscular Atrophy	phenotype	HPO
C0270960	Congenital myopathy (disorder)	group	BEFREE
C0270984	Metabolic myopathy	group	BEFREE
C0271091	Retinoschisis, Juvenile, X-Linked	disease	BEFREE
C0311335	Grand Mal Status Epilepticus	disease	CTD_human
C0311394	Difficulty walking	phenotype	HPO
C0333068	Flexion contracture	phenotype	HPO
C0334606	Fibrous Meningioma	disease	BEFREE
C0338656	Impaired cognition	disease	BEFREE;HPO
C0339510	Vitelliform Macular Dystrophy	disease	BEFREE
C0340427	Familial dilated cardiomyopathy	disease	BEFREE;ORPHANET
C0340434	Dystrophic cardiomyopathy	disease	BEFREE
C0342482	X-linked Adrenal Hypoplasia	disease	BEFREE
C0346647	Malignant neoplasm of pancreas	disease	BEFREE
C0349588	Short stature	phenotype	CLINVAR
C0349782	Ischemic cardiomyopathy	disease	BEFREE
C0393734	Complex Partial Status Epilepticus	disease	CTD_human
C0398568	Blood group deletion syndrome	disease	BEFREE
C0410158	Muscle damage	phenotype	BEFREE
C0410165	X-linked muscular dystrophy with abnormal dystrophin	disease	BEFREE
C0410173	Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)	disease	BEFREE
C0410174	Fukuyama Type Congenital Muscular Dystrophy	disease	BEFREE
C0410179	Scleroatonic muscular dystrophy	disease	BEFREE
C0410214	Myopathy with Abnormal Lipid Metabolism	disease	BEFREE
C0410538	Pseudoachondroplasia	disease	BEFREE
C0423903	Low intelligence	phenotype	HPO
C0424295	Hyperactive behavior	phenotype	BEFREE
C0424551	Impaired exercise tolerance	phenotype	HPO
C0424605	Developmental delay (disorder)	disease	BEFREE
C0432185	Aplasia of muscle	disease	BEFREE
C0438237	Liver enzymes abnormal	phenotype	HPO
C0438717	Transaminases increased	phenotype	HPO
C0454644	Delayed speech and language development	phenotype	HPO
C0456702	Severe childhood autosomal recessive muscular dystrophy	disease	BEFREE
C0476403	Electromyogram abnormal	phenotype	CLINVAR
C0521174	Microcalcification	phenotype	CTD_human
C0522055	Electrocardiogram abnormal	phenotype	HPO
C0522153	Urine color abnormal	phenotype	HPO
C0525045	Mood Disorders	group	BEFREE
C0541794	Skeletal muscle atrophy	phenotype	HPO
C0546817	Fluid overload	phenotype	BEFREE
C0557874	Global developmental delay	disease	BEFREE;HPO
C0574083	3-Methylglutaconic aciduria type 2	disease	BEFREE
C0575071	Gowers sign present	phenotype	HPO
C0578022	Finding of body mass index	phenotype	GWASCAT
C0596270	Cardiovascular Infections	group	BEFREE
C0677886	Epithelial ovarian cancer	disease	BEFREE
C0683322	Mental impairment	disease	BEFREE;HPO
C0686353	Muscular Dystrophies, Limb-Girdle	group	BEFREE;GENOMICS_ENGLAND
C0699741	Benign congenital myopathy	disease	MGD
C0699743	Congenital muscular dystrophy (disorder)	disease	BEFREE;GENOMICS_ENGLAND
C0700078	Decreased tendon reflex	phenotype	HPO
C0700208	Acquired scoliosis	phenotype	HPO
C0750403	Proximal weakness	phenotype	BEFREE
C0751336	Distal Muscular Dystrophies	group	GENOMICS_ENGLAND
C0751522	Status Epilepticus, Subclinical	disease	CTD_human
C0751523	Non-Convulsive Status Epilepticus	disease	CTD_human
C0751524	Simple Partial Status Epilepticus	disease	CTD_human
C0855329	Electrocardiographic changes	phenotype	HPO
C0876993	Cardiac ventricular thrombosis	disease	BEFREE
C0877359	Increased liver function tests	phenotype	HPO
C0878544	Cardiomyopathies	group	BEFREE;CLINVAR;CTD_human;HPO
C0917713	Becker Muscular Dystrophy	disease	BEFREE;CLINVAR;CTD_human;ORPHANET;UNIPROT
C0917816	Mental deficiency	disease	HPO
C0948775	High weight	phenotype	BEFREE
C1136382	Sclerocystic Ovaries	disease	CTD_human
C1145670	Respiratory Failure	disease	BEFREE;HPO
C1261473	Sarcoma	group	BEFREE
C1263846	Attention deficit hyperactivity disorder	disease	BEFREE
C1270972	Mild cognitive disorder	disease	BEFREE
C1275122	Familial multiple trichoepitheliomata	disease	BEFREE
C1285162	Degenerative disorder	group	BEFREE
C1305855	Body mass index	phenotype	GWASCAT
C1332347	Atypical Ductal Breast Hyperplasia	disease	BEFREE
C1368019	Paget Disease	disease	BEFREE
C1383860	Cardiac Hypertrophy	phenotype	CTD_human
C1449563	Cardiomyopathy, Familial Idiopathic	disease	BEFREE;CTD_human
C1456418	Absence of muscle	disease	BEFREE
C1511789	Desmoplastic	disease	BEFREE
C1527249	Colorectal Cancer	disease	UNIPROT
C1527311	Brain Edema	disease	RGD
C1533847	Disorder of skeletal muscle	group	BEFREE
C1540600	Cerebral seizure	disease	BEFREE
C1689817	Cardiomyopathy associated with another disorder	group	BEFREE
C1744601	Abnormal heart beat	phenotype	HPO
C1832603	ECG abnormality	phenotype	HPO
C1834674	Bethlem myopathy	disease	BEFREE
C1837249	Malformations of Cortical Development, Group II	disease	BEFREE
C1837352	Childhood onset	phenotype	HPO
C1838869	Proximal neurogenic muscle weakness	phenotype	HPO
C1839666	Calf muscle pseudohypertrophy	phenotype	HPO
C1839839	MAJOR AFFECTIVE DISORDER 2	disease	BEFREE
C1840264	IMMUNE SUPPRESSION	phenotype	BEFREE
C1842003	Subclinical abnormal liver function tests	phenotype	HPO
C1842820	Cardiac conduction abnormality	phenotype	HPO
C1843057	Calf muscle hypertrophy	phenotype	CLINVAR;HPO
C1843367	Poor school performance	phenotype	HPO
C1843479	Neurogenic muscle atrophy, especially in the lower limbs	phenotype	HPO
C1844806	Weight less than 3rd percentile	phenotype	CLINVAR
C1848172	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A	disease	BEFREE
C1848701	Elevated hepatic transaminases	phenotype	HPO
C1850049	Clinodactyly of the 5th finger	disease	CLINVAR
C1850530	Flexion contractures of joints	phenotype	HPO
C1850830	Exercise-induced myalgia	phenotype	BEFREE;CLINVAR
C1851710	LATERAL MENINGOCELE SYNDROME	disease	BEFREE
C1854301	Motor delay	phenotype	CLINVAR;HPO
C1855496	Contiguous gene syndrome	disease	BEFREE
C1855578	Exercise-induced muscle cramps	phenotype	CLINVAR
C1855579	Exercise-induced muscle stiffness	phenotype	CLINVAR
C1855580	Exercise-induced muscle fatigue	phenotype	CLINVAR
C1858120	Generalized hypotonia	phenotype	HPO
C1858593	Limb-girdle muscular dystrophy, type 2E	disease	BEFREE
C1862425	Prominent globes	phenotype	CLINVAR
C1863753	LIMB-MAMMARY SYNDROME	disease	BEFREE
C1864711	Muscle biopsy shows dystrophic changes	phenotype	HPO
C1864897	Cognitive delay	phenotype	HPO
C1866010	Proximal muscle weakness in lower limbs	phenotype	CLINVAR
C1868675	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	disease	BEFREE
C2051831	Pectus excavatum	phenotype	CLINVAR
C2076600	Influenza due to Influenza A virus subtype H1N1	disease	GWASCAT
C2678065	Myofibrillar Myopathy	disease	BEFREE
C2720163	Placental Steroid Sulfatase Deficiency	disease	BEFREE
C2748527	KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT (disorder)	disease	BEFREE
C2875313	Severe [Duchenne] muscular dystrophy	disease	BEFREE
C2930900	Beta-sarcoglycanopathy	disease	BEFREE
C2931498	Mental Retardation, X-Linked 1	disease	ORPHANET
C2931687	Dysferlinopathy	disease	BEFREE
C2936331	Sarcoglycanopathies	disease	BEFREE
C2940786	Thyroid Hormone Resistance Syndrome	disease	BEFREE
C3179349	Gastrointestinal Stromal Sarcoma	disease	CTD_human
C3203358	Hypoventilation	phenotype	HPO
C3250443	MYOTONIC DYSTROPHY 1	disease	BEFREE
C3542021	Duchenne and Becker Muscular Dystrophy	disease	BEFREE;CTD_human
C3668940	Dmd-Associated Dilated Cardiomyopathy	disease	BEFREE;CLINVAR;CTD_human;UNIPROT
C3711376	Isodicentric Chromosome 15 Syndrome	disease	BEFREE
C3714552	Weakness	phenotype	BEFREE
C3714756	Intellectual Disability	group	BEFREE;GENOMICS_ENGLAND;HPO
C3887524	Skin Erosion	disease	BEFREE
C4016476	DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG B-WAVE	phenotype	CLINVAR
C4016477	INTERMEDIATE MUSCULAR DYSTROPHY	phenotype	CLINVAR
C4020855	Respiratory function loss	phenotype	HPO
C4020874	No development of motor milestones	phenotype	HPO
C4020875	Mental and motor retardation	phenotype	HPO
C4020876	Dull intelligence	phenotype	HPO
C4021526	Exercise-induced rhabdomyolysis	phenotype	CLINVAR
C4021726	EMG: myopathic abnormalities	phenotype	CLINVAR
C4025790	Specific learning disability	disease	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0002162	dystroglycan binding	IPI
GO:0003779	actin binding	TAS
GO:0003779	actin binding	IDA
GO:0005200	structural constituent of cytoskeleton	TAS
GO:0005515	protein binding	IPI
GO:0008270	zinc ion binding	IEA
GO:0008307	structural constituent of muscle	IDA
GO:0008307	structural constituent of muscle	TAS
GO:0017022	myosin binding	IDA
GO:0017166	vinculin binding	IPI
GO:0050998	nitric-oxide synthase binding	ISS

GO:Biological Process

GO ID	GO Term	Evidence
GO:0002027	regulation of heart rate	IMP
GO:0007010	cytoskeleton organization	IEA
GO:0007517	muscle organ development	NAS
GO:0010880	regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	ISS
GO:0010881	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	ISS
GO:0014809	regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion	ISS
GO:0014819	regulation of skeletal muscle contraction	ISS
GO:0030049	muscle filament sliding	TAS
GO:0033137	negative regulation of peptidyl-serine phosphorylation	ISS
GO:0034613	cellular protein localization	IMP
GO:0034622	cellular protein-containing complex assembly	ISS
GO:0035994	response to muscle stretch	ISS
GO:0043043	peptide biosynthetic process	IDA
GO:0046716	muscle cell cellular homeostasis	ISS
GO:0048747	muscle fiber development	ISS
GO:0060048	cardiac muscle contraction	IMP
GO:0060314	regulation of ryanodine-sensitive calcium-release channel activity	ISS
GO:0086001	cardiac muscle cell action potential	ISS
GO:1901385	regulation of voltage-gated calcium channel activity	ISS
GO:1902083	negative regulation of peptidyl-cysteine S-nitrosylation	ISS
GO:2000651	positive regulation of sodium ion transmembrane transporter activity	ISS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005623	cell	IEA
GO:0005829	cytosol	TAS
GO:0005856	cytoskeleton	IEA
GO:0009986	cell surface	IDA
GO:0016010	dystrophin-associated glycoprotein complex	IDA
GO:0016010	dystrophin-associated glycoprotein complex	NAS
GO:0016010	dystrophin-associated glycoprotein complex	TAS
GO:0016013	syntrophin complex	TAS
GO:0030018	Z disc	ISS
GO:0030055	cell-substrate junction	ISS
GO:0030175	filopodium	IDA
GO:0031527	filopodium membrane	IDA
GO:0032991	protein-containing complex	IDA
GO:0042383	sarcolemma	IDA
GO:0043034	costamere	IDA
GO:0044306	neuron projection terminus	ISS
GO:0045121	membrane raft	ISS
GO:0045202	synapse	ISS
GO:0045211	postsynaptic membrane	IEA
GO:0016328	lateral plasma membrane	TAS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1474244	Extracellular matrix organization	IEA
R-HSA-3000171	Non-integrin membrane-ECM interactions	IEA
R-HSA-390522	Striated Muscle Contraction	TAS
R-HSA-397014	Muscle contraction	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C029790	2,2',3',4,4',5-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of DMD mRNA	25510870
C029790	2,2',3',4,4',5-hexachlorobiphenyl	2,2',3',4,4',5-hexachlorobiphenyl results in decreased expression of DMD mRNA	23829299
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of DMD mRNA	19114083
C081766	2,4,4'-trichlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of DMD mRNA	25510870
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of DMD mRNA	25510870
C009828	2,4,5,2',5'-pentachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of DMD mRNA	25510870
C009407	2,5,2',5'-tetrachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of DMD mRNA	25510870
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene affects the expression of DMD mRNA	21346803
C023035	3,4,5,3',4'-pentachlorobiphenyl	3,4,5,3',4'-pentachlorobiphenyl results in decreased expression of DMD mRNA	23196670
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in increased expression of DMD mRNA	18648102
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of DMD mRNA	19150397; 26238291;
D000079	Acetaldehyde	Acetaldehyde affects the expression of DMD mRNA	22634333
D000082	Acetaminophen	Acetaminophen results in decreased expression of DMD mRNA	21420995
D000082	Acetaminophen	Acetaminophen affects the expression of DMD mRNA	17562736
C056165	acetovanillone	acetovanillone inhibits the reaction [DMD gene mutant form results in increased expression of RELA protein modified form]	26930420
C056165	acetovanillone	acetovanillone inhibits the reaction [DMD gene mutant form results in increased expression of SIRT1 mRNA]	26930420
D000255	Adenosine Triphosphate	DMD gene mutant form results in increased secretion of Adenosine Triphosphate	24349043
D000255	Adenosine Triphosphate	Nifedipine inhibits the reaction [DMD gene mutant form results in increased secretion of Adenosine Triphosphate]	24349043
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of DMD gene	27153756
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of DMD intron	30157460
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of DMD mRNA	19770486
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of DMD mRNA	16483693
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of DMD protein	16483693
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of DMD mRNA	24449571
C015001	arsenite	arsenite results in increased methylation of DMD promoter	23974009
D017632	Asbestos, Serpentine	Asbestos, Serpentine results in increased expression of DMD mRNA	21148743
C547126	AZM551248	AZM551248 results in decreased expression of DMD mRNA	22323515
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the methylation of DMD intron	30157460
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of DMD mRNA	22316170
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of DMD mRNA	19770486
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of DMD protein	21467743
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of DMD mRNA	30951980
C006780	bisphenol A	bisphenol A affects the methylation of DMD exon	30906313
C006780	bisphenol A	bisphenol A affects the methylation of DMD intron	30906313
C006780	bisphenol A	bisphenol A results in increased methylation of DMD promoter	30906313
C006780	bisphenol A	bisphenol A results in increased expression of DMD mRNA	30951980
C006780	bisphenol A	bisphenol A affects the expression of DMD mRNA	21786754
C006780	bisphenol A	bisphenol A affects the expression of DMD mRNA	25181051
C006780	bisphenol A	bisphenol A results in decreased expression of DMD mRNA	31129395
C006780	bisphenol A	bisphenol A results in increased expression of DMD mRNA	30816183
C006780	bisphenol A	bisphenol A results in increased methylation of DMD gene	28505145
C000611646	bisphenol F	bisphenol F results in increased expression of DMD mRNA	30951980
D002118	Calcium	DMD gene mutant form results in increased abundance of Calcium	24349043
D002118	Calcium	Nifedipine inhibits the reaction [DMD gene mutant form results in increased abundance of Calcium]	24349043
D002994	Clofibrate	Clofibrate results in increased expression of DMD mRNA	17585979
D003300	Copper	Copper results in decreased expression of DMD mRNA	26293553
C029892	cupric chloride	cupric chloride results in increased expression of DMD mRNA	17211630
D003471	Cuprizone	Cuprizone results in increased expression of DMD mRNA	27523638
D016572	Cyclosporine	Cyclosporine results in decreased expression of DMD mRNA	20106945
D003630	Daunorubicin	Daunorubicin results in decreased expression of DMD mRNA	26537877; 28940058;
D003634	DDT	DDT results in increased methylation of DMD gene	30207508
D003703	Demecolcine	Demecolcine results in increased expression of DMD mRNA	23649840
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in increased expression of DMD mRNA	17361019; 21266533;
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in decreased expression of DMD mRNA	31163220
C051904	dinophysistoxin 1	dinophysistoxin 1 results in decreased expression of DMD mRNA	28939011
D004280	Dobutamine	DMD gene mutant form results in increased susceptibility to Dobutamine	17440445
D004317	Doxorubicin	Doxorubicin results in decreased expression of DMD mRNA	26537877; 28940058; 29803840;
D004317	Doxorubicin	DMD protein affects the reaction [Doxorubicin results in decreased expression of ACTA1 mRNA]	17888722
D004317	Doxorubicin	DMD protein affects the reaction [Doxorubicin results in decreased expression of BDH1 mRNA]	17888722
D004317	Doxorubicin	DMD protein affects the reaction [Doxorubicin results in decreased expression of BGN mRNA]	17888722
D004317	Doxorubicin	DMD protein affects the reaction [Doxorubicin results in decreased expression of HSPH1 mRNA]	17888722
D004317	Doxorubicin	DMD protein affects the reaction [Doxorubicin results in decreased expression of POSTN mRNA]	17888722
D004317	Doxorubicin	DMD protein affects the reaction [Doxorubicin results in decreased expression of SPP1 mRNA]	17888722
D004317	Doxorubicin	DMD protein affects the reaction [Doxorubicin results in increased expression of DSC2 mRNA]	17888722
D004317	Doxorubicin	DMD protein affects the reaction [Doxorubicin results in increased expression of MYL7 mRNA]	17888722
D004317	Doxorubicin	DMD protein affects the reaction [Doxorubicin results in increased expression of SPSB1 mRNA]	17888722
D004726	Endosulfan	Endosulfan results in decreased expression of DMD mRNA	29391264
D004958	Estradiol	[Estradiol co-treated with Progesterone] results in decreased expression of DMD mRNA	20660070
D000431	Ethanol	Ethanol results in decreased expression of DMD mRNA	29018328
D000431	Ethanol	Ethanol results in increased expression of DMD mRNA	30319688
D005038	Ethylnitrosourea	Ethylnitrosourea results in increased mutagenesis of DMD gene	16724327
D005047	Etoposide	DMD protein affects the susceptibility to Etoposide	16217747
D005047	Etoposide	Etoposide results in decreased expression of DMD mRNA	29397400
D011345	Fenofibrate	Fenofibrate results in decreased expression of DMD mRNA	11798191
D017313	Fenretinide	Fenretinide results in increased expression of DMD mRNA	28973697
C061365	flusilazole	flusilazole affects the expression of DMD mRNA	22634333
D005557	Formaldehyde	Formaldehyde results in increased expression of DMD mRNA	23649840
C001277	geldanamycin	geldanamycin results in increased expression of DMD mRNA	26705709
D019833	Genistein	ESR2 promotes the reaction [Genistein results in decreased expression of DMD protein]	20884965
D019833	Genistein	Genistein results in decreased expression of DMD protein	20884965
D005839	Gentamicins	Gentamicins results in increased expression of DMD protein mutant form	12966700; 16122626;
D005839	Gentamicins	DMD protein affects the reaction [Gentamicins results in increased expression of NOS1 protein]	14751810
D005839	Gentamicins	Gentamicins results in increased expression of DMD protein mutant form	14751810; 18694830;
D005839	Gentamicins	[Gentamicins results in increased expression of DMD protein mutant form] which affects the expression of NOS3 protein	14751810
D005839	Gentamicins	[Gentamicins results in increased expression of DMD protein mutant form] which results in increased expression of AQP4 protein	18694830
D006108	Graphite	Graphite affects the expression of DMD mRNA	29933104
D006861	Hydrogen Peroxide	Hydrogen Peroxide affects the expression of DMD protein	21179406
D007545	Isoproterenol	DMD gene mutant form promotes the reaction [ITGB1 gene affects the susceptibility to Isoproterenol]	18340010
D007545	Isoproterenol	Isoproterenol results in decreased expression of DMD	18808529
D007854	Lead	Lead affects the expression of DMD mRNA	28903495
D007854	Lead	Lead affects the splicing of DMD mRNA	28903495
D008627	Mercuric Chloride	Mercuric Chloride affects the expression of DMD mRNA	20353558
D008694	Methamphetamine	Methamphetamine results in decreased expression of DMD mRNA	29802913
D008694	Methamphetamine	Methamphetamine results in increased expression of DMD mRNA	26307267
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of DMD mRNA	26011545
D008775	Methylprednisolone	Methylprednisolone inhibits the reaction [DMD gene mutant form results in increased expression of RELA protein modified form]	26930420
D008775	Methylprednisolone	Methylprednisolone inhibits the reaction [DMD gene mutant form results in increased expression of SIRT1 mRNA]	26930420
D016685	Mitomycin	DMD protein affects the susceptibility to Mitomycin	16217747
D008942	Mitoxantrone	Mitoxantrone results in decreased expression of DMD mRNA	26537877; 28940058;
C016599	mono-(2-ethylhexyl)phthalate	mono-(2-ethylhexyl)phthalate results in increased expression of DMD mRNA	22401849
D060172	Morpholinos	Morpholinos results in increased expression of DMD	21540335
C523799	MRK 003	DMD results in decreased susceptibility to MRK 003	19903844
D009151	Mustard Gas	Mustard Gas results in decreased expression of DMD mRNA	18955075
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of DMD mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of DMD mRNA	25554681; 25620056;
D009532	Nickel	Nickel results in decreased expression of DMD mRNA	25583101
D009543	Nifedipine	Nifedipine inhibits the reaction [DMD gene mutant form results in increased abundance of Calcium]	24349043
D009543	Nifedipine	Nifedipine inhibits the reaction [DMD gene mutant form results in increased expression of BAX mRNA]	24349043
D009543	Nifedipine	Nifedipine inhibits the reaction [DMD gene mutant form results in increased expression of NOS2 mRNA]	24349043
D009543	Nifedipine	Nifedipine inhibits the reaction [DMD gene mutant form results in increased secretion of Adenosine Triphosphate]	24349043
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in increased expression of DMD mRNA	20188158
D010100	Oxygen	[NFE2L2 protein affects the susceptibility to Oxygen] which affects the expression of DMD mRNA	30529165
D010269	Paraquat	DMD gene mutant form results in increased susceptibility to Paraquat	10797403
C410127	PCB 180	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of DMD mRNA	25510870
C410127	PCB 180	PCB 180 results in increased expression of DMD mRNA	23829299
D010416	Pentachlorophenol	Pentachlorophenol results in decreased expression of DMD mRNA	24642059
D010416	Pentachlorophenol	Pentachlorophenol results in increased expression of DMD mRNA	29458080
C027579	periodate-oxidized adenosine	periodate-oxidized adenosine affects the expression of DMD mRNA	17097637
D010862	Pilocarpine	Pilocarpine results in decreased expression of DMD protein	20886625
C006253	pirinixic acid	pirinixic acid results in decreased expression of DMD mRNA	11798191
D011374	Progesterone	[Estradiol co-treated with Progesterone] results in decreased expression of DMD mRNA	20660070
C005556	propionaldehyde	propionaldehyde results in increased expression of DMD mRNA	26079696
D011441	Propylthiouracil	Propylthiouracil results in decreased expression of DMD mRNA	24780913
D000077185	Resveratrol	Resveratrol inhibits the reaction [DMD gene mutant form results in decreased expression of ATP2A2 mRNA]	23297412
D000077185	Resveratrol	Resveratrol inhibits the reaction [DMD gene mutant form results in increased expression of ACTA2 mRNA]	23297412
D000077185	Resveratrol	Resveratrol inhibits the reaction [DMD gene mutant form results in increased expression of COL1A1 mRNA]	23297412
D000077185	Resveratrol	Resveratrol inhibits the reaction [DMD gene mutant form results in increased expression of COL1A2 mRNA]	23297412
D000077185	Resveratrol	Resveratrol inhibits the reaction [DMD gene mutant form results in increased expression of COL3A1 mRNA]	23297412
D000077185	Resveratrol	Resveratrol inhibits the reaction [DMD gene mutant form results in increased expression of EP300 protein]	23297412
D000077185	Resveratrol	Resveratrol inhibits the reaction [DMD gene mutant form results in increased expression of NPPA mRNA]	23297412
D000077185	Resveratrol	Resveratrol inhibits the reaction [DMD gene mutant form results in increased expression of TGFB1 mRNA]	26930420
D000077185	Resveratrol	Resveratrol results in decreased expression of DMD mRNA	22610192
D012822	Silicon Dioxide	Silicon Dioxide analog results in decreased expression of DMD mRNA	25895662
D018030	Silver Compounds	Silver Compounds results in decreased expression of DMD mRNA	29703973
C009277	sodium arsenate	sodium arsenate results in increased expression of DMD mRNA	21795629
D013096	Spermine	Spermine results in increased expression of DMD mRNA	18673383
D013605	T-2 Toxin	T-2 Toxin results in decreased expression of DMD mRNA	31299295
D013654	Taurine	Taurine inhibits the reaction [DMD gene mutant form results in increased expression of RELA protein modified form]	26930420
D013654	Taurine	Taurine inhibits the reaction [DMD gene mutant form results in increased expression of SIRT1 mRNA]	26930420
D013866	Thioguanine	Thioguanine results in increased splicing of DMD exon	23259153
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in increased expression of DMD mRNA	18087596
C024746	tobacco tar	tobacco tar results in decreased expression of DMD mRNA	19559774
D014118	Toxins, Biological	Toxins, Biological affects the expression of DMD mRNA	19682533
D014212	Tretinoin	Tretinoin results in decreased expression of DMD mRNA	23724009
C012589	trichostatin A	trichostatin A results in increased expression of DMD mRNA	24935251
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in decreased expression of DMD mRNA	26179874
D014635	Valproic Acid	Valproic Acid results in decreased expression of DMD mRNA	23179753; 28001369;
D014635	Valproic Acid	Valproic Acid results in increased expression of DMD mRNA	24383497; 24935251; 27188386;
D001335	Vehicle Emissions	Vehicle Emissions affects the methylation of DMD gene	25560391
C025643	vinclozolin	vinclozolin results in increased expression of DMD mRNA	23034163
D014750	Vincristine	Vincristine results in increased expression of DMD mRNA	23649840
D024483	Vitamin K 3	DMD gene mutant form results in increased susceptibility to Vitamin K 3	10797403
D000077337	Vorinostat	Vorinostat results in decreased expression of DMD mRNA	27188386
D015215	Zidovudine	Zidovudine affects the localization of DMD protein	17943461

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0009	Actin-binding
KW-0877	Alternative promoter usage
KW-0025	Alternative splicing
KW-0106	Calcium
KW-0122	Cardiomyopathy
KW-0965	Cell junction
KW-1003	Cell membrane
KW-0963	Cytoplasm
KW-0206	Cytoskeleton
KW-0225	Disease mutation
KW-0472	Membrane
KW-0479	Metal-binding
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-0628	Postsynaptic cell membrane
KW-1185	Reference proteome
KW-0677	Repeat
KW-0770	Synapse
KW-0862	Zinc
KW-0863	Zinc-finger

Interpro

InterPro ID	InterPro Term
IPR001589	Actinin_actin-bd_CS
IPR001715	CH-domain
IPR036872	CH_dom_sf
IPR035436	Dystrophin/utrophin
IPR011992	EF-hand-dom_pair
IPR015153	EF-hand_dom_typ1
IPR015154	EF-hand_dom_typ2
IPR018159	Spectrin/alpha-actinin
IPR002017	Spectrin_repeat
IPR001202	WW_dom
IPR036020	WW_dom_sf
IPR000433	Znf_ZZ
IPR043145	Znf_ZZ_sf

PROSITE

PROSITE ID	PROSITE Term
PS00019	ACTININ_1
PS00020	ACTININ_2
PS50021	CH
PS01159	WW_DOMAIN_1
PS50020	WW_DOMAIN_2
PS01357	ZF_ZZ_1
PS50135	ZF_ZZ_2

Pfam

Pfam ID	Pfam Term
PF00307	CH
PF09068	EF-hand_2
PF09069	EF-hand_3
PF00435	Spectrin
PF00397	WW
PF00569	ZZ

Gene: DMD

Basic information

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

There is no orthologous record for this gene !

Identified variants/mutations related to cleft phenotype

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction