MCID: DMD004
MIFTS: 13

Dmd-Related Dilated Cardiomyopathy malady

Genetic diseases, Cardiovascular diseases, Rare diseases, Muscle diseases categories

Aliases & Classifications for Dmd-Related Dilated Cardiomyopathy

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Aliases & Descriptions for Dmd-Related Dilated Cardiomyopathy:

Name: Dmd-Related Dilated Cardiomyopathy 22
Cardiomyopathy, Dilated, 3b 22
 
Cmd3b 22


Classifications:



Summaries for Dmd-Related Dilated Cardiomyopathy

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MalaCards based summary: Dmd-Related Dilated Cardiomyopathy, also known as cardiomyopathy, dilated, 3b, is related to cardiomyopathy, dilated, 3b and dmd-associated dilated cardiomyopathy. An important gene associated with Dmd-Related Dilated Cardiomyopathy is DMD (Dystrophin). Affiliated tissues include heart.

Related Diseases for Dmd-Related Dilated Cardiomyopathy

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Diseases in the Cardiomyopathy family:

Cardiomyopathy, Dilated, 1cc Cardiomyopathy, Dilated, 1a
Cardiomyopathy, Dilated, 1v Cardiomyopathy, Dilated, 1d
Cardiomyopathy, Dilated, 1h Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1i Cardiomyopathy, Dilated, 1nn
Cardiomyopathy, Dilated, 1z Cardiomyopathy, Dilated, 1e
Cardiomyopathy, Dilated, 1gg Cardiomyopathy, Dilated, 1l
Cardiomyopathy, Dilated, 1k Cardiomyopathy, Dilated, 1jj
Cardiomyopathy, Dilated, 1p Cardiomyopathy, Dilated, 1j
Cardiomyopathy, Dilated, 2b Cardiomyopathy, Dilated, 1q
Cardiomyopathy, Dilated, 1x Cardiomyopathy, Dilated, 1kk
Cardiomyopathy, Dilated, 1w Cardiomyopathy, Dilated, 1dd
Cardiomyopathy, Dilated, 1hh Cardiomyopathy, Dilated, 1m
Cardiomyopathy, Dilated, 1ii Cardiomyopathy, Dilated, 1o
Cardiomyopathy, Dilated, 1t Cardiomyopathy, Dilated, 1ee
Cardiomyopathy, Dilated, 1u Cardiomyopathy, Dilated, 1r
Cardiomyopathy, Dilated, 1bb Cardiomyopathy, Dilated, 2a
Cardiomyopathy, Dilated, 1ff Cardiomyopathy, Dilated, 3b
Dilated Cardiomyopathy Lmna-Related Dilated Cardiomyopathy
Cardiomyopathy Due to Anthracyclines Familial Dilated Cardiomyopathy
Abcc9-Related Dilated Cardiomyopathy Actc1-Related Dilated Cardiomyopathy
Actn2-Related Dilated Cardiomyopathy Ankrd1-Related Dilated Cardiomyopathy
Bag3-Related Dilated Cardiomyopathy Csrp3-Related Dilated Cardiomyopathy
Des-Related Dilated Cardiomyopathy dmd-related dilated cardiomyopathy
Dsg2-Related Dilated Cardiomyopathy Eya4-Related Dilated Cardiomyopathy
Fktn-Related Dilated Cardiomyopathy Gatad1-Related Dilated Cardiomyopathy
Lama4-Related Dilated Cardiomyopathy Ldb3-Related Dilated Cardiomyopathy
Mybpc3-Related Dilated Cardiomyopathy Myh6-Related Dilated Cardiomyopathy
Myh7-Related Dilated Cardiomyopathy Nexn-Related Dilated Cardiomyopathy
Pln-Related Dilated Cardiomyopathy Psen1-Related Dilated Cardiomyopathy
Psen2-Related Dilated Cardiomyopathy Rbm20-Related Dilated Cardiomyopathy
Scn5a-Related Dilated Cardiomyopathy Sgcd-Related Dilated Cardiomyopathy
Taz-Related Dilated Cardiomyopathy Tcap-Related Dilated Cardiomyopathy
Tmpo-Related Dilated Cardiomyopathy Tnnc1-Related Dilated Cardiomyopathy
Tnni3-Related Dilated Cardiomyopathy Tnnt2-Related Dilated Cardiomyopathy
Tpm1-Related Dilated Cardiomyopathy Ttn-Related Dilated Cardiomyopathy
Vcl-Related Dilated Cardiomyopathy

Diseases related to Dmd-Related Dilated Cardiomyopathy via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cardiomyopathy, dilated, 3b10.5
2dmd-associated dilated cardiomyopathy10.3

Symptoms for Dmd-Related Dilated Cardiomyopathy

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Drugs & Therapeutics for Dmd-Related Dilated Cardiomyopathy

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Prospective Becker-Heart-StudyRecruitingNCT02020954

Search NIH Clinical Center for Dmd-Related Dilated Cardiomyopathy

Genetic Tests for Dmd-Related Dilated Cardiomyopathy

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Genetic tests related to Dmd-Related Dilated Cardiomyopathy:

id Genetic test Affiliating Genes
1 Dmd-Related Dilated Cardiomyopathy22 DMD

Anatomical Context for Dmd-Related Dilated Cardiomyopathy

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MalaCards organs/tissues related to Dmd-Related Dilated Cardiomyopathy:

33
Heart

Animal Models for Dmd-Related Dilated Cardiomyopathy or affiliated genes

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Publications for Dmd-Related Dilated Cardiomyopathy

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Variations for Dmd-Related Dilated Cardiomyopathy

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Clinvar genetic disease variations for Dmd-Related Dilated Cardiomyopathy:

5 (show all 219)
id Gene Variation Type Significance SNP ID Assembly Location
1DMDNM_004006.2(DMD): c.8944C> T (p.Arg2982Ter)single nucleotide variantPathogenicrs128625229GRCh37Chr X, 31462738: 31462738
2DMDNM_004006.2(DMD): c.10108C> T (p.Arg3370Ter)single nucleotide variantPathogenicrs104894787GRCh37Chr X, 31196901: 31196901
3DMDNM_004006.2(DMD): c.2302C> T (p.Arg768Ter)single nucleotide variantPathogenicrs201366610GRCh37Chr X, 32519950: 32519950
4DMDNM_004006.2(DMD): c.433C> T (p.Arg145Ter)single nucleotide variantPathogenicrs128626235GRCh37Chr X, 32834682: 32834682
5DMDDMD, EX1DELdeletionPathogenic
6DMDDMD, IVS1, G-T, +1single nucleotide variantPathogenic
7DMDNM_004006.2(DMD): c.1952G> A (p.Trp651Ter)single nucleotide variantPathogenicrs128626242GRCh37Chr X, 32583859: 32583859
8DMDNM_004006.2(DMD): c.3121C> T (p.Gln1041Ter)single nucleotide variantPathogenicrs128626245GRCh37Chr X, 32486656: 32486656
9DMDNM_004006.2(DMD): c.5899C> T (p.Arg1967Ter)single nucleotide variantPathogenicrs128626249GRCh37Chr X, 32360240: 32360240
10DMDNM_004006.2(DMD): c.6292C> T (p.Arg2098Ter)single nucleotide variantPathogenicrs128626250GRCh37Chr X, 32235179: 32235179
11DMDNM_004006.2(DMD): c.6373C> T (p.Gln2125Ter)single nucleotide variantPathogenicrs128626251GRCh37Chr X, 32235098: 32235098
12DMDNM_004006.2(DMD): c.10141C> T (p.Arg3381Ter)single nucleotide variantPathogenicrs104894790GRCh37Chr X, 31196868: 31196868
13DMDNM_004006.2(DMD): c.835A> G (p.Thr279Ala)single nucleotide variantPathogenicrs128627255GRCh37Chr X, 32716112: 32716112
14DMDDMD, ALU INSinsertionPathogenic
15DMDNM_004006.2(DMD): c.9568C> T (p.Arg3190Ter)single nucleotide variantPathogenicrs104894797GRCh37Chr X, 31224780: 31224780
16DMDDMD, 16-BP DELdeletionPathogenic
17DMDNM_004006.2(DMD): c.8713C> T (p.Arg2905Ter)single nucleotide variantPathogenicrs128627256GRCh37Chr X, 31496447: 31496447
18DMDNM_004006.2(DMD): c.9164-1G> Csingle nucleotide variantPathogenicrs398124082GRCh37Chr X, 31341776: 31341776
19DMDNM_004006.2(DMD): c.8680G> T (p.Glu2894Ter)single nucleotide variantPathogenicrs727503802GRCh37Chr X, 31496480: 31496480
20DMDNM_004006.2(DMD): c.5363C> G (p.Ser1788Ter)single nucleotide variantPathogenicrs199774535GRCh37Chr X, 32366608: 32366608
21DMDNM_004006.2(DMD): c.3532G> T (p.Glu1178Ter)single nucleotide variantPathogenicrs727503836GRCh37Chr X, 32472850: 32472850
22DMDNM_004006.2(DMD): c.2956C> T (p.Gln986Ter)single nucleotide variantPathogenicrs727503844GRCh37Chr X, 32486821: 32486821
23DMDNM_004006.2(DMD): c.2755A> T (p.Lys919Ter)single nucleotide variantPathogenicrs727503850GRCh37Chr X, 32503084: 32503084
24DMDNM_004006.2(DMD): c.2484T> G (p.Tyr828Ter)single nucleotide variantPathogenicrs727503858GRCh37Chr X, 32509532: 32509532
25DMDNM_004006.2(DMD): c.883C> T (p.Arg295Ter)single nucleotide variantPathogenicrs727503864GRCh37Chr X, 32716064: 32716064
26DMDNM_004006.2(DMD): c.1070delC (p.Ser357Leufs)deletionPathogenicrs794726994GRCh37Chr X, 32663160: 32663160
27DMDNM_004006.2(DMD): c.2804-2A> Tsingle nucleotide variantPathogenicrs794727357GRCh37Chr X, 32490428: 32490428
28DMDNM_004006.2(DMD): c.3535G> T (p.Glu1179Ter)single nucleotide variantPathogenicrs794727422GRCh37Chr X, 32472847: 32472847
29DMDNM_004006.2(DMD): c.5697delA (p.Lys1899Asnfs)deletionPathogenicrs794727661GRCh38Chr X, 32343176: 32343176
30DMDNM_004006.2(DMD): c.6238delC (p.Gln2080Serfs)deletionPathogenicrs794727672GRCh37Chr X, 32305698: 32305698
31DMDNM_004006.2(DMD): c.6982A> T (p.Lys2328Ter)single nucleotide variantPathogenicrs754896795GRCh38Chr X, 31875304: 31875304
32DMDNM_004006.2(DMD): c.8656C> T (p.Gln2886Ter)single nucleotide variantPathogenicrs201361100GRCh37Chr X, 31497112: 31497112
33DMDNM_004006.2(DMD): c.627delA (p.Ile209Metfs)deletionPathogenicrs794727862GRCh37Chr X, 32827632: 32827632
34DMDNM_004006.2(DMD): c.10554-2A> Gsingle nucleotide variantPathogenicrs794727890GRCh37Chr X, 31165637: 31165637
35DMDNM_004006.2(DMD): c.9G> A (p.Trp3Ter)single nucleotide variantPathogenicrs398122853GRCh37Chr X, 33229421: 33229421
36DMDNM_004006.2(DMD): c.10033C> T (p.Arg3345Ter)single nucleotide variantPathogenicrs398123827GRCh37Chr X, 31198540: 31198540
37DMDNM_004006.2(DMD): c.10086+1G> Asingle nucleotide variantPathogenicrs398123828GRCh37Chr X, 31198486: 31198486
38DMDNM_004006.2(DMD): c.1012G> T (p.Glu338Ter)single nucleotide variantPathogenicrs398123830GRCh37Chr X, 32663218: 32663218
39DMDNM_004006.2(DMD): c.10167delT (p.Arg3391Glufs)deletionPathogenicrs398123831GRCh37Chr X, 31196842: 31196842
40DMDNM_004006.2(DMD): c.10171C> T (p.Arg3391Ter)single nucleotide variantPathogenicrs398123832GRCh37Chr X, 31196838: 31196838
41DMDNM_004006.2(DMD): c.10192C> T (p.Gln3398Ter)single nucleotide variantPathogenicrs398123833GRCh37Chr X, 31196817: 31196817
42DMDNM_004019.2(DMD): c.1020G> A (p.Thr340=)single nucleotide variantPathogenicrs398123834GRCh37Chr X, 31196785: 31196785
43DMDNM_004006.2(DMD): c.10258dupT (p.Ser3420Phefs)duplicationPathogenicrs398123835GRCh37Chr X, 31196053: 31196053
44DMDNM_004006.2(DMD): c.10446_10447delCT (p.Ser3483Profs)deletionPathogenicrs398123837GRCh37Chr X, 31187666: 31187667
45DMDNM_004006.2(DMD): c.10453_10454delCT (p.Leu3485Glufs)deletionPathogenicrs398123838GRCh37Chr X, 31187659: 31187660
46DMDNM_004006.2(DMD): c.1048G> T (p.Glu350Ter)single nucleotide variantPathogenicrs398123840GRCh37Chr X, 32663182: 32663182
47DMDNM_004006.2(DMD): c.10602dupA (p.Gly3535Argfs)duplicationPathogenicrs398123842GRCh37Chr X, 31165587: 31165587
48DMDNM_004006.2(DMD): c.10625delC (p.Pro3542Leufs)deletionPathogenicrs398123844GRCh37Chr X, 31165564: 31165564
49DMDNM_004006.2(DMD): c.10774delA (p.Arg3592Glyfs)deletionPathogenicrs398123845GRCh37Chr X, 31165415: 31165415
50DMDNM_004006.2(DMD): c.1261C> T (p.Gln421Ter)single nucleotide variantPathogenicrs398123852GRCh37Chr X, 32662319: 32662319
51DMDNM_004006.2(DMD): c.1286C> A (p.Ser429Ter)single nucleotide variantPathogenicrs398123853GRCh37Chr X, 32662294: 32662294
52DMDNM_004006.2(DMD): c.1306dupG (p.Val436Glyfs)duplicationPathogenicrs398123854GRCh37Chr X, 32662274: 32662274
53DMDNM_004006.2(DMD): c.1332-9A> Gsingle nucleotide variantPathogenicrs72468700GRCh37Chr X, 32632579: 32632579
54DMDNM_004006.2(DMD): c.1341_1342dupAG (p.Val448Glufs)duplicationPathogenicrs398123856GRCh37Chr X, 32632560: 32632561
55DMDNM_004006.2(DMD): c.1371delG (p.Glu459Serfs)deletionPathogenicrs398123857GRCh37Chr X, 32632531: 32632531
56DMDNM_004006.2(DMD): c.137A> T (p.Asp46Val)single nucleotide variantPathogenicrs398123858GRCh37Chr X, 32867894: 32867894
57DMDNM_004006.2(DMD): c.137_138dupAT (p.Gly47Metfs)duplicationPathogenicrs398123859GRCh37Chr X, 32867893: 32867894
58DMDNM_004006.2(DMD): c.1465C> T (p.Gln489Ter)single nucleotide variantPathogenicrs398123861GRCh37Chr X, 32632437: 32632437
59DMDNM_004006.2(DMD): c.1482+1G> Tsingle nucleotide variantPathogenicrs398123862GRCh37Chr X, 32632419: 32632419
60DMDNM_004006.2(DMD): c.1529_1530delTC (p.Leu510Hisfs)deletionPathogenicrs398123863GRCh37Chr X, 32613946: 32613947
61DMDNM_004006.2(DMD): c.160_162delCTC (p.Leu54del)deletionPathogenicrs398123864GRCh37Chr X, 32867869: 32867871
62DMDNM_004006.2(DMD): c.1615C> T (p.Arg539Ter)single nucleotide variantPathogenicrs398123865GRCh37Chr X, 32591951: 32591951
63DMDNM_004006.2(DMD): c.1734delA (p.Glu579Lysfs)deletionPathogenicrs398123866GRCh37Chr X, 32591725: 32591725
64DMDNM_004006.2(DMD): c.1886C> A (p.Ser629Ter)single nucleotide variantPathogenicrs398123867GRCh37Chr X, 32583925: 32583925
65DMDNM_004006.2(DMD): c.1900A> T (p.Lys634Ter)single nucleotide variantPathogenicrs398123868GRCh37Chr X, 32583911: 32583911
66DMDNM_004006.2(DMD): c.1900_1903dupAAGT (p.Ser635Terfs)duplicationPathogenicrs398123869GRCh37Chr X, 32583908: 32583911
67DMDNM_004006.2(DMD): c.1990C> T (p.Gln664Ter)single nucleotide variantPathogenicrs398123870GRCh37Chr X, 32583821: 32583821
68DMDNM_004006.2(DMD): c.199G> T (p.Gly67Ter)single nucleotide variantPathogenicrs398123871GRCh37Chr X, 32862965: 32862965
69DMDNM_004006.2(DMD): c.2032C> T (p.Gln678Ter)single nucleotide variantPathogenicrs398123872GRCh37Chr X, 32563412: 32563412
70DMDNM_004006.2(DMD): c.2032_2033delCA (p.Gln678Aspfs)deletionPathogenicrs398123873GRCh37Chr X, 32563411: 32563412
71DMDNM_004006.2(DMD): c.204dupC (p.Thr69Hisfs)duplicationPathogenicrs398123874GRCh37Chr X, 32862960: 32862960
72DMDNM_004006.2(DMD): c.2125delC (p.Gln709Lysfs)deletionPathogenicrs398123875GRCh37Chr X, 32563319: 32563319
73DMDNM_004006.2(DMD): c.2137C> T (p.Gln713Ter)single nucleotide variantPathogenicrs398123876GRCh37Chr X, 32563307: 32563307
74DMDNM_004006.2(DMD): c.2169-3_2169-1delinsAAindelPathogenicrs398123877GRCh37Chr X, 32536249: 32536251
75DMDNM_004006.2(DMD): c.220delC (p.Leu74Terfs)deletionPathogenicrs398123880GRCh37Chr X, 32862944: 32862944
76DMDNM_004006.2(DMD): c.2281_2285delGAAAA (p.Glu761Serfs)deletionPathogenicrs398123881GRCh37Chr X, 32536132: 32536136
77DMDNM_004006.2(DMD): c.2294_2297delCCAT (p.Ala765Glufs)deletionPathogenicrs398123882GRCh37Chr X, 32519955: 32519958
78DMDNM_004006.2(DMD): c.2332C> T (p.Gln778Ter)single nucleotide variantPathogenicrs398123883GRCh37Chr X, 32519920: 32519920
79DMDNM_004006.2(DMD): c.2380+1G> Csingle nucleotide variantPathogenicrs398123884GRCh37Chr X, 32519871: 32519871
80DMDNM_004006.2(DMD): c.2380+2T> Csingle nucleotide variantPathogenicrs398123885GRCh37Chr X, 32519870: 32519870
81DMDNM_004006.2(DMD): c.2381-1G> Tsingle nucleotide variantPathogenicrs398123887GRCh37Chr X, 32509636: 32509636
82DMDNM_004006.2(DMD): c.2419C> T (p.Gln807Ter)single nucleotide variantPathogenicrs398123888GRCh37Chr X, 32509597: 32509597
83DMDNM_004006.2(DMD): c.2436G> A (p.Trp812Ter)single nucleotide variantPathogenicrs398123889GRCh37Chr X, 32509580: 32509580
84DMDNM_004006.2(DMD): c.2479delG (p.Glu827Serfs)deletionPathogenicrs398123890GRCh38Chr X, 32491420: 32491420
85DMDNM_004006.2(DMD): c.2482T> G (p.Tyr828Asp)single nucleotide variantPathogenicrs398123891GRCh37Chr X, 32509534: 32509534
86DMDNM_004006.2(DMD): c.251delT (p.Leu84Cysfs)deletionPathogenicrs398123893GRCh37Chr X, 32862913: 32862913
87DMDNM_004006.2(DMD): c.2523delA (p.Gln841Hisfs)deletionPathogenicrs398123894GRCh37Chr X, 32509493: 32509493
88DMDNM_004006.2(DMD): c.2547delT (p.Glu850Lysfs)deletionPathogenicrs398123895GRCh37Chr X, 32509469: 32509469
89DMDNM_004006.2(DMD): c.2622+1G> Asingle nucleotide variantPathogenicrs398123901GRCh37Chr X, 32509393: 32509393
90DMDNM_004006.2(DMD): c.2650C> T (p.Gln884Ter)single nucleotide variantPathogenicrs398123903GRCh37Chr X, 32503189: 32503189
91DMDNM_004006.2(DMD): c.2758C> T (p.Gln920Ter)single nucleotide variantPathogenicrs398123905GRCh37Chr X, 32503081: 32503081
92DMDNM_004006.2(DMD): c.2803+1G> Asingle nucleotide variantPathogenicrs398123908GRCh37Chr X, 32503035: 32503035
93DMDNM_004006.2(DMD): c.2803+1G> Tsingle nucleotide variantPathogenicrs398123908GRCh37Chr X, 32503035: 32503035
94DMDNM_004006.2(DMD): c.2804-1G> Asingle nucleotide variantPathogenicrs398123909GRCh37Chr X, 32490427: 32490427
95DMDNM_004006.2(DMD): c.2816T> A (p.Leu939Ter)single nucleotide variantPathogenicrs398123910GRCh37Chr X, 32490414: 32490414
96DMDNM_004006.2(DMD): c.2866C> T (p.Gln956Ter)single nucleotide variantPathogenicrs398123912GRCh37Chr X, 32490364: 32490364
97DMDNM_004006.2(DMD): c.28delT (p.Cys10Valfs)deletionPathogenicrs398123913GRCh37Chr X, 33229402: 33229402
98DMDNM_004006.2(DMD): c.2929dupC (p.Gln977Profs)duplicationPathogenicrs398123914GRCh37Chr X, 32490301: 32490301
99DMDNM_004006.2(DMD): c.2954T> A (p.Leu985Ter)single nucleotide variantPathogenicrs398123916GRCh37Chr X, 32486823: 32486823
100DMDNM_004006.2(DMD): c.2977C> T (p.Gln993Ter)single nucleotide variantPathogenicrs398123917GRCh37Chr X, 32486800: 32486800
101DMDNM_004006.2(DMD): c.3022A> T (p.Lys1008Ter)single nucleotide variantPathogenicrs398123918GRCh37Chr X, 32486755: 32486755
102DMDNM_004006.2(DMD): c.3059C> G (p.Ser1020Ter)single nucleotide variantPathogenicrs398123919GRCh37Chr X, 32486718: 32486718
103DMDNM_004006.2(DMD): c.3076G> T (p.Glu1026Ter)single nucleotide variantPathogenicrs398123920GRCh37Chr X, 32486701: 32486701
104DMDNM_004006.2(DMD): c.3087G> A (p.Trp1029Ter)single nucleotide variantPathogenicrs398123921GRCh37Chr X, 32486690: 32486690
105DMDNM_004006.2(DMD): c.31+1G> Tsingle nucleotide variantPathogenicrs398123923GRCh37Chr X, 33229398: 33229398
106DMDNM_004006.2(DMD): c.3124A> T (p.Lys1042Ter)single nucleotide variantPathogenicrs398123927GRCh37Chr X, 32486653: 32486653
107DMDNM_004006.2(DMD): c.3151C> T (p.Arg1051Ter)single nucleotide variantPathogenicrs398123929GRCh37Chr X, 32486626: 32486626
108DMDNM_004006.2(DMD): c.32-2A> Tsingle nucleotide variantPathogenicrs398123930GRCh37Chr X, 33038319: 33038319
109DMDNM_004006.2(DMD): c.3246_3247insTTTCTAAAAA (p.Ile1083Phefs)insertionPathogenicrs398123932GRCh37Chr X, 32482732: 32482733
110DMDNM_004006.2(DMD): c.3276+1G> Asingle nucleotide variantPathogenicrs398123934GRCh37Chr X, 32482702: 32482702
111DMDNM_004006.2(DMD): c.3295C> T (p.Gln1099Ter)single nucleotide variantPathogenicrs398123935GRCh37Chr X, 32481693: 32481693
112DMDNM_004006.2(DMD): c.336G> A (p.Trp112Ter)single nucleotide variantPathogenicrs398123936GRCh37Chr X, 32841433: 32841433
113DMDNM_004006.2(DMD): c.3432+1G> Asingle nucleotide variantPathogenicrs398123937GRCh37Chr X, 32481555: 32481555
114DMDNM_004006.2(DMD): c.3432+3A> Gsingle nucleotide variantPathogenicrs398123938GRCh37Chr X, 32481553: 32481553
115DMDNM_004006.2(DMD): c.3433-1G> Asingle nucleotide variantPathogenicrs398123939GRCh37Chr X, 32472950: 32472950
116DMDNM_004006.2(DMD): c.3502G> T (p.Glu1168Ter)single nucleotide variantPathogenicrs398123941GRCh37Chr X, 32472880: 32472880
117DMDNM_004006.2(DMD): c.3580C> T (p.Gln1194Ter)single nucleotide variantPathogenicrs398123942GRCh37Chr X, 32472802: 32472802
118DMDNM_004006.2(DMD): c.3639dupA (p.Val1214Serfs)duplicationPathogenicrs398123943GRCh37Chr X, 32466720: 32466720
119DMDNM_004006.2(DMD): c.3697delC (p.Gln1233Lysfs)deletionPathogenicrs398123944GRCh37Chr X, 32466662: 32466662
120DMDNM_004006.2(DMD): c.3747delG (p.Trp1249Cysfs)deletionPathogenicrs398123945GRCh37Chr X, 32466612: 32466612
121DMDNM_004006.2(DMD): c.3779_3785delCTTTGGAinsGG (p.Thr1260Argfs)indelPathogenicrs398123946GRCh37Chr X, 32466574: 32466580
122DMDNM_004006.2(DMD): c.4071G> C (p.Glu1357Asp)single nucleotide variantPathogenicrs398123947GRCh37Chr X, 32456358: 32456358
123DMDNM_004006.2(DMD): c.4117C> T (p.Gln1373Ter)single nucleotide variantPathogenicrs398123948GRCh37Chr X, 32429985: 32429985
124DMDNM_004006.2(DMD): c.412_413delAA (p.Lys138Aspfs)deletionPathogenicrs398123949GRCh37Chr X, 32834702: 32834703
125DMDNM_004006.2(DMD): c.4314_4315delAA (p.Arg1439Serfs)deletionPathogenicrs398123950GRCh37Chr X, 32408217: 32408218
126DMDNM_004006.2(DMD): c.4375C> T (p.Arg1459Ter)single nucleotide variantPathogenicrs398123953GRCh37Chr X, 32407761: 32407761
127DMDNM_004006.2(DMD): c.4405C> T (p.Gln1469Ter)single nucleotide variantPathogenicrs398123954GRCh37Chr X, 32407731: 32407731
128DMDNM_004006.2(DMD): c.4409_4412dupGTCT (p.Gln1472Serfs)duplicationPathogenicrs398123955GRCh37Chr X, 32407724: 32407727
129DMDNM_004006.2(DMD): c.4471_4472delAA (p.Lys1491Glufs)deletionPathogenicrs398123957GRCh37Chr X, 32407664: 32407665
130DMDNM_004006.2(DMD): c.4486delG (p.Glu1496Lysfs)deletionPathogenicrs398123958GRCh37Chr X, 32407650: 32407650
131DMDNM_004006.2(DMD): c.4500delA (p.Gln1501Serfs)deletionPathogenicrs398123959GRCh38Chr X, 32389519: 32389519
132DMDNM_004006.2(DMD): c.4518+5G> Asingle nucleotide variantPathogenicrs398123960GRCh37Chr X, 32407613: 32407613
133DMDNM_004006.2(DMD): c.4534_4535delCT (p.Leu1512Glufs)deletionPathogenicrs398123961GRCh37Chr X, 32404566: 32404567
134DMDNM_004006.2(DMD): c.4545_4549delGAAGT (p.Lys1516Terfs)deletionPathogenicrs398123962GRCh37Chr X, 32404552: 32404556
135DMDNM_004006.2(DMD): c.4634dupT (p.Thr1546Asnfs)duplicationPathogenicrs398123963GRCh37Chr X, 32404467: 32404467
136DMDNM_004006.2(DMD): c.4735G> T (p.Glu1579Ter)single nucleotide variantPathogenicrs398123964GRCh37Chr X, 32398737: 32398737
137DMDNM_004006.2(DMD): c.4843A> T (p.Lys1615Ter)single nucleotide variantPathogenicrs398123969GRCh37Chr X, 32398629: 32398629
138DMDNM_004006.2(DMD): c.489G> A (p.Trp163Ter)single nucleotide variantPathogenicrs398123970GRCh37Chr X, 32834626: 32834626
139DMDNM_004006.2(DMD): c.4902_4908delAGGAGAG (p.Gly1635Profs)deletionPathogenicrs398123971GRCh37Chr X, 32383254: 32383260
140DMDNM_004006.2(DMD): c.4926_4971dup46 (p.Ser1658Glyfs)duplicationPathogenicrs398123972GRCh37Chr X, 32383191: 32383236
141DMDNM_004006.2(DMD): c.4996C> T (p.Arg1666Ter)single nucleotide variantPathogenicrs398123973GRCh37Chr X, 32383166: 32383166
142DMDNM_004006.2(DMD): c.4996_5004delCGAGCAGAAinsT (p.Arg1666Terfs)indelPathogenicrs398123974GRCh37Chr X, 32383158: 32383166
143DMDNM_004006.2(DMD): c.5052delT (p.Phe1684Leufs)deletionPathogenicrs398123977GRCh37Chr X, 32382801: 32382801
144DMDNM_004006.2(DMD): c.5124_5127delGAAA (p.Lys1708Asnfs)deletionPathogenicrs398123979GRCh37Chr X, 32382726: 32382729
145DMDNM_004006.2(DMD): c.5134C> T (p.Gln1712Ter)single nucleotide variantPathogenicrs398123980GRCh37Chr X, 32382719: 32382719
146DMDNM_004006.2(DMD): c.5287C> T (p.Arg1763Ter)single nucleotide variantPathogenicrs398123981GRCh37Chr X, 32380943: 32380943
147DMDNM_004006.2(DMD): c.530+1delGdeletionPathogenicrs398123983GRCh37Chr X, 32834584: 32834584
148DMDNM_004006.2(DMD): c.531-2A> Csingle nucleotide variantPathogenicrs398123985GRCh37Chr X, 32827730: 32827730
149DMDNM_004006.2(DMD): c.5313dupT (p.Lys1772Terfs)duplicationPathogenicrs398123987GRCh37Chr X, 32380917: 32380917
150DMDNM_004006.2(DMD): c.5353C> T (p.Gln1785Ter)single nucleotide variantPathogenicrs398123990GRCh37Chr X, 32366618: 32366618
151DMDNM_004006.2(DMD): c.5530C> T (p.Arg1844Ter)single nucleotide variantPathogenicrs1064325GRCh37Chr X, 32364116: 32364116
152DMDNM_004006.2(DMD): c.5554C> T (p.Gln1852Ter)single nucleotide variantPathogenicrs398123991GRCh37Chr X, 32364092: 32364092
153DMDNM_004006.2(DMD): c.5570_5571dupAA (p.His1858Asnfs)duplicationPathogenicrs398123992GRCh37Chr X, 32364075: 32364076
154DMDNM_004006.2(DMD): c.5640T> A (p.Tyr1880Ter)single nucleotide variantPathogenicrs398123993GRCh37Chr X, 32361350: 32361350
155DMDNM_004006.2(DMD): c.5671A> T (p.Lys1891Ter)single nucleotide variantPathogenicrs398123995GRCh37Chr X, 32361319: 32361319
156DMDNM_004006.2(DMD): c.5773G> T (p.Glu1925Ter)single nucleotide variantPathogenicrs398123997GRCh37Chr X, 32360366: 32360366
157DMDNM_004006.2(DMD): c.5807T> A (p.Leu1936Ter)single nucleotide variantPathogenicrs398123998GRCh37Chr X, 32360332: 32360332
158DMDNM_004006.2(DMD): c.583C> T (p.Arg195Ter)single nucleotide variantPathogenicrs398123999GRCh37Chr X, 32827676: 32827676
159DMDNM_004006.2(DMD): c.5922+3G> Csingle nucleotide variantPathogenicrs398124000GRCh37Chr X, 32360214: 32360214
160DMDNM_004006.2(DMD): c.5938G> T (p.Glu1980Ter)single nucleotide variantPathogenicrs398124001GRCh37Chr X, 32328378: 32328378
161DMDNM_004006.2(DMD): c.6000T> A (p.Tyr2000Ter)single nucleotide variantPathogenicrs398124002GRCh37Chr X, 32328316: 32328316
162DMDNM_004006.2(DMD): c.6014_6017delCTCA (p.Thr2005Metfs)deletionPathogenicrs398124003GRCh37Chr X, 32328299: 32328302
163DMDNM_004006.2(DMD): c.6072T> A (p.Cys2024Ter)single nucleotide variantPathogenicrs373804251GRCh37Chr X, 32328244: 32328244
164DMDNM_004006.2(DMD): c.615T> A (p.Tyr205Ter)single nucleotide variantPathogenicrs398124004GRCh37Chr X, 32827644: 32827644
165DMDNM_004006.2(DMD): c.6182delC (p.Ala2061Glufs)deletionPathogenicrs398124005GRCh37Chr X, 32305754: 32305754
166DMDNM_004006.2(DMD): c.6226G> T (p.Glu2076Ter)single nucleotide variantPathogenicrs398124007GRCh37Chr X, 32305710: 32305710
167DMDNM_004006.2(DMD): c.6283C> T (p.Arg2095Ter)single nucleotide variantPathogenicrs398124008GRCh37Chr X, 32305653: 32305653
168DMDNM_004006.2(DMD): c.6340A> T (p.Lys2114Ter)single nucleotide variantPathogenicrs398124011GRCh37Chr X, 32235131: 32235131
169DMDNM_004006.2(DMD): c.6391_6392delCA (p.Gln2131Asnfs)deletionPathogenicrs398124012GRCh37Chr X, 32235079: 32235080
170DMDNM_004006.2(DMD): c.6392_6393insCA (p.Gln2131Hisfs)insertionPathogenicrs398124013GRCh37Chr X, 32235078: 32235079
171DMDNM_004006.2(DMD): c.649+1G> Asingle nucleotide variantPathogenicrs398124032GRCh37Chr X, 32827609: 32827609
172DMDNM_004006.2(DMD): c.6763-2A> Gsingle nucleotide variantPathogenicrs398124033GRCh37Chr X, 31947864: 31947864
173DMDNM_004006.2(DMD): c.676_678delAAG (p.Lys226del)deletionPathogenicrs398124034GRCh37Chr X, 32717382: 32717384
174DMDNM_004006.2(DMD): c.6834delT (p.Val2279Terfs)deletionPathogenicrs398124035GRCh37Chr X, 31947791: 31947791
175DMDNM_004006.2(DMD): c.6906G> A (p.Trp2302Ter)single nucleotide variantPathogenicrs398124036GRCh37Chr X, 31947719: 31947719
176DMDNM_004006.2(DMD): c.6936delA (p.Lys2312Asnfs)deletionPathogenicrs398124037GRCh37Chr X, 31893467: 31893467
177DMDNM_004006.2(DMD): c.6943G> T (p.Glu2315Ter)single nucleotide variantPathogenicrs398124038GRCh37Chr X, 31893460: 31893460
178DMDNM_004006.2(DMD): c.6964delG (p.Asp2322Thrfs)deletionPathogenicrs398124039GRCh37Chr X, 31893439: 31893439
179DMDNM_004006.2(DMD): c.6986dupA (p.Leu2330Alafs)duplicationPathogenicrs398124040GRCh37Chr X, 31893417: 31893417
180DMDNM_004006.2(DMD): c.7189C> T (p.Gln2397Ter)single nucleotide variantPathogenicrs398124042GRCh37Chr X, 31854846: 31854846
181DMDNM_004006.2(DMD): c.7229G> A (p.Trp2410Ter)single nucleotide variantPathogenicrs398124043GRCh37Chr X, 31838172: 31838172
182DMDNM_004006.2(DMD): c.7309+1G> Asingle nucleotide variantPathogenicrs398124044GRCh37Chr X, 31838091: 31838091
183DMDNM_004006.2(DMD): c.7552delC (p.Gln2518Argfs)deletionPathogenicrs398124049GRCh37Chr X, 31747856: 31747856
184DMDNM_004006.2(DMD): c.7657C> T (p.Arg2553Ter)single nucleotide variantPathogenicrs398124050GRCh37Chr X, 31747751: 31747751
185DMDNM_004006.2(DMD): c.7682G> A (p.Trp2561Ter)single nucleotide variantPathogenicrs398124052GRCh37Chr X, 31697682: 31697682
186DMDNM_004006.2(DMD): c.7683G> A (p.Trp2561Ter)single nucleotide variantPathogenicrs398124053GRCh37Chr X, 31697681: 31697681
187DMDNM_004006.2(DMD): c.7764dupT (p.Lys2589Terfs)duplicationPathogenicrs398124054GRCh37Chr X, 31697600: 31697600
188DMDNM_004006.2(DMD): c.7771G> T (p.Glu2591Ter)single nucleotide variantPathogenicrs398124055GRCh37Chr X, 31697593: 31697593
189DMDNM_004006.2(DMD): c.7818G> A (p.Trp2606Ter)single nucleotide variantPathogenicrs398124056GRCh37Chr X, 31697546: 31697546
190DMDNM_004006.2(DMD): c.7854delG (p.Ile2620Serfs)deletionPathogenicrs398124057GRCh37Chr X, 31697510: 31697510
191DMDNM_004006.2(DMD): c.7894C> T (p.Gln2632Ter)single nucleotide variantPathogenicrs398124058GRCh37Chr X, 31676240: 31676240
192DMDNM_004006.2(DMD): c.7922delA (p.Asn2641Metfs)deletionPathogenicrs398124059GRCh37Chr X, 31676212: 31676212
193DMDNM_004006.2(DMD): c.8064_8065delTA (p.His2688Glnfs)deletionPathogenicrs398124060GRCh37Chr X, 31645942: 31645943
194DMDNM_004006.2(DMD): c.8069T> G (p.Leu2690Ter)single nucleotide variantPathogenicrs398124061GRCh37Chr X, 31645938: 31645938
195DMDNM_004006.2(DMD): c.8086delC (p.Leu2696Trpfs)deletionPathogenicrs398124062GRCh37Chr X, 31645921: 31645921
196DMDNM_004006.2(DMD): c.8358G> A (p.Trp2786Ter)single nucleotide variantPathogenicrs398124068GRCh37Chr X, 31525430: 31525430
197DMDNM_004006.2(DMD): c.8374_8375delAA (p.Lys2792Valfs)deletionPathogenicrs398124070GRCh37Chr X, 31525413: 31525414
198DMDNM_004006.2(DMD): c.8443C> T (p.Gln2815Ter)single nucleotide variantPathogenicrs398124072GRCh37Chr X, 31515009: 31515009
199DMDNM_004006.2(DMD): c.8464C> T (p.Gln2822Ter)single nucleotide variantPathogenicrs398124073GRCh38Chr X, 31496871: 31496871
200DMDNM_004006.2(DMD): c.8608C> T (p.Arg2870Ter)single nucleotide variantPathogenicrs398124074GRCh37Chr X, 31497160: 31497160
201DMDNM_004006.2(DMD): c.8652_8653delCT (p.Tyr2885Profs)deletionPathogenicrs398124075GRCh37Chr X, 31497115: 31497116
202DMDNM_004006.2(DMD): c.8668G> A (p.Glu2890Lys)single nucleotide variantPathogenicrs398124076GRCh37Chr X, 31497100: 31497100
203DMDNM_004006.2(DMD): c.8912_8913delTC (p.Leu2971Profs)deletionPathogenicrs398124078GRCh37Chr X, 31496247: 31496248
204DMDNM_004006.2(DMD): c.9125delA (p.His3042Profs)deletionPathogenicrs398124080GRCh37Chr X, 31366711: 31366711
205DMDNM_004006.2(DMD): c.9158_9161delTTTC (p.Leu3053Profs)deletionPathogenicrs398124081GRCh37Chr X, 31366675: 31366678
206DMDNM_004006.2(DMD): c.9164-1G> Tsingle nucleotide variantPathogenicrs398124082GRCh37Chr X, 31341776: 31341776
207DMDNM_004006.2(DMD): c.9224+61934A> Gsingle nucleotide variantPathogenicrs398124084GRCh37Chr X, 31279781: 31279781
208DMDNM_004006.2(DMD): c.9225-647A> Gsingle nucleotide variantPathogenicrs398124091GRCh37Chr X, 31279780: 31279780
209DMDNM_004006.2(DMD): c.9337C> T (p.Arg3113Ter)single nucleotide variantPathogenicrs398124092GRCh37Chr X, 31241188: 31241188
210DMDNM_004006.2(DMD): c.9346C> T (p.Gln3116Ter)single nucleotide variantPathogenicrs398124093GRCh37Chr X, 31241179: 31241179
211DMDNM_004006.2(DMD): c.9361+1G> Asingle nucleotide variantPathogenicrs398124094GRCh37Chr X, 31241163: 31241163
212DMDNM_004006.2(DMD): c.9361+1G> Csingle nucleotide variantPathogenicrs398124094GRCh37Chr X, 31241163: 31241163
213DMDNM_004006.2(DMD): c.9564-1G> Asingle nucleotide variantPathogenicrs398124096GRCh37Chr X, 31224785: 31224785
214DMDNM_004006.2(DMD): c.961-5831C> Tsingle nucleotide variantPathogenicrs398124099GRCh37Chr X, 32669100: 32669100
215DMDNM_004006.2(DMD): c.9650-2A> Gsingle nucleotide variantPathogenicrs398124100GRCh37Chr X, 31222237: 31222237
216DMDNM_004006.2(DMD): c.9767dupG (p.Ser3257Glnfs)duplicationPathogenicrs398124103GRCh37Chr X, 31222118: 31222118
217DMDNM_004006.2(DMD): c.9851G> A (p.Trp3284Ter)single nucleotide variantPathogenicrs398124104GRCh37Chr X, 31200978: 31200978
218DMDNM_004006.2(DMD): c.9854_9863delTGAGACTGGA (p.Met3285Asnfs)deletionPathogenicrs398124105GRCh37Chr X, 31200966: 31200975
219DMDNM_004006.2(DMD): c.9862G> T (p.Glu3288Ter)single nucleotide variantPathogenicrs398124106GRCh37Chr X, 31200967: 31200967

Expression for genes affiliated with Dmd-Related Dilated Cardiomyopathy

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Search GEO for disease gene expression data for Dmd-Related Dilated Cardiomyopathy.

Pathways for genes affiliated with Dmd-Related Dilated Cardiomyopathy

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GO Terms for genes affiliated with Dmd-Related Dilated Cardiomyopathy

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Sources for Dmd-Related Dilated Cardiomyopathy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet