MCID: CRD162
MIFTS: 53

Cardiomyopathy, Dilated, 1ii malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Muscle diseases, Ear diseases, Neuronal diseases categories
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Summaries for Cardiomyopathy, Dilated, 1ii

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MalaCards based summary: Cardiomyopathy, Dilated, 1ii, also known as familial or idiopathic dilated cardiomyopathy, is related to dilated cardiomyopathy and alzheimer disease type 1, and has symptoms including cardiomyopathy/hypertrophic/dilated, autosomal dominant inheritance and sensorineural deafness/hearing loss. An important gene associated with Cardiomyopathy, Dilated, 1ii is CRYAB (crystallin, alpha B), and among its related pathways are Notch Pathway and A-beta Plaque Formation and APP Metabolism. The compounds s-182 and jlk 6 have been mentioned in the context of this disorder. Affiliated tissues include neutrophil, and related mouse phenotypes are digestive/alimentary and respiratory system.

Descriptions from OMIM:46 615184, 615235, 615248, 615373, 615396 615916, 607482, 607487, 608569, 609909, 609915, 611407, 611615, 611878, 611879, 611880, 612158, 612877, 613122, 613172, 613252, 613286, 613424, 613426, 613642, 613694, 613697, 613740, 613881, 614672, 302045, 600884, 601154, 601493, 601494, 604145, 604288, 604765, 605582, 606685 more

Aliases & Classifications for Cardiomyopathy, Dilated, 1ii

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Sources:
46OMIM, 48Orphanet, 26ICD10 via Orphanet
See all sources

Cardiomyopathy, Dilated, 1ii, Aliases & Descriptions:

Name: Cardiomyopathy, Dilated, 1ii 46
Familial or Idiopathic Dilated Cardiomyopathy 48
 
Familial Isolated Dilated Cardiomyopathy 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
familial or idiopathic dilated cardiomyopathy:
Inheritance: Autosomal dominant,Autosomal recessive,Mitochondrial inheritance,X-linked recessive; Prevalence: 1-5/10000; Age of onset: Variable; Age of death: Any age


Related Diseases for Cardiomyopathy, Dilated, 1ii

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Diseases in the Dilated Cardiomyopathy family:

Lmna-Related Dilated Cardiomyopathy Cardiomyopathy Due to Anthracyclines
Familial Dilated Cardiomyopathy Taz-Related Dilated Cardiomyopathy
Tnnt2-Related Dilated Cardiomyopathy Myh7-Related Dilated Cardiomyopathy
Mybpc3-Related Dilated Cardiomyopathy Tpm1-Related Dilated Cardiomyopathy
Des-Related Dilated Cardiomyopathy Sgcd-Related Dilated Cardiomyopathy
Tnni3-Related Dilated Cardiomyopathy Actc1-Related Dilated Cardiomyopathy
Ldb3-Related Dilated Cardiomyopathy Pln-Related Dilated Cardiomyopathy
Scn5a-Related Dilated Cardiomyopathy Dmd-Related Dilated Cardiomyopathy
Ttn-Related Dilated Cardiomyopathy Csrp3-Related Dilated Cardiomyopathy
Tcap-Related Dilated Cardiomyopathy Abcc9-Related Dilated Cardiomyopathy
Vcl-Related Dilated Cardiomyopathy Actn2-Related Dilated Cardiomyopathy
Tnnc1-Related Dilated Cardiomyopathy Ankrd1-Related Dilated Cardiomyopathy
Psen2-Related Dilated Cardiomyopathy Psen1-Related Dilated Cardiomyopathy
Eya4-Related Dilated Cardiomyopathy Tmpo-Related Dilated Cardiomyopathy
Fktn-Related Dilated Cardiomyopathy Dsg2-Related Dilated Cardiomyopathy
Nexn-Related Dilated Cardiomyopathy Rbm20-Related Dilated Cardiomyopathy
Bag3-Related Dilated Cardiomyopathy Myh6-Related Dilated Cardiomyopathy
Cardiomyopathy, Dilated, 1ll Cardiomyopathy, Dilated, 1cc
Cardiomyopathy, Dilated, 1a Cardiomyopathy, Dilated, 1v
Cardiomyopathy, Dilated, 1d Cardiomyopathy, Dilated, 1aa
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 1b Cardiomyopathy, Dilated, 1x
Cardiomyopathy, Dilated, 1kk Cardiomyopathy, Dilated, 1w
Cardiomyopathy, Dilated 1c Cardiomyopathy, Dilated, 1dd
Cardiomyopathy, Dilated, 1hh Cardiomyopathy, Dilated, 1m
Cardiomyopathy, Dilated, 1mm cardiomyopathy, dilated, 1ii
Cardiomyopathy, Dilated, 1o Cardiomyopathy, Dilated, 1t
Cardiomyopathy, Dilated, 1ee Cardiomyopathy, Dilated, 1u
Cardiomyopathy, Dilated, 1r Cardiomyopathy, Dilated, 1n
Cardiomyopathy, Dilated, 1bb Cardiomyopathy, Dilated, 2a
Cardiomyopathy, Dilated, 1ff Severe Dilated Cardiomyopathy Due to Lamin a/c Mutation

Diseases related to Cardiomyopathy, Dilated, 1ii via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 24)
idRelated DiseaseScoreTop Affiliating Genes
1dilated cardiomyopathy30.7VCL, TCAP, LDB3, ACTC1, PLN, CSRP3
2alzheimer disease type 110.5PSEN1, PSEN2
3alzheimer disease type 210.5PSEN1, PSEN2
4prion disease10.5PSEN2, PSEN1
5endocardial fibroelastosis10.5TAZ
6hemorrhage, intracerebral10.5PSEN2, PSEN1
7becker muscular dystrophy10.5VCL, FKTN
8duchenne muscular dystrophy10.4TCAP, FKTN, VCL
9limb-girdle muscular dystrophy10.4TCAP, FKTN
10astrocytoma10.4VCL, PSEN1, PSEN2, PLA2G2A
11barth syndrome10.4TAZ, LDB3
12paraganglioma10.4ACTC1
13rhabdomyosarcoma10.3ACTC1, VCL
14myopathy10.3FKTN, TCAP, LDB3, TAZ
15familial hypertrophic cardiomyopathy10.3ACTC1, CSRP3, PLN, TCAP
16ischemia10.2PSEN1, VCL, PLA2G2A, RAF1
17hypertrophic cardiomyopathy10.2CSRP3, ACTC1
18congenital heart disease10.2ACTC1, CSRP3, PLN, TAZ
19pemphigus vulgaris10.1DSG2, VCL
20factor v leiden thrombophilia10.1PSEN1, ACTC1, PLA2G2A
21adenocarcinoma10.0RAF1, PSEN2, ACTC1, PLA2G2A, VCL
22breast cancer9.9FHL2, PSEN2, RAF1, PLA2G2A, VCL, CSRP3
23melanoma9.9FHL2, VCL, RAF1, ACTC1, PLA2G2A
24noonan syndrome9.8PLN, CSRP3, VCL, TAZ, DSG2, TCAP

Graphical network of the top 20 diseases related to Cardiomyopathy, Dilated, 1ii:



Diseases related to cardiomyopathy, dilated, 1ii

Symptoms for Cardiomyopathy, Dilated, 1ii

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Symptoms by clinical synopsis from OMIM:

615184

Clinical features from OMIM:

615184, 615235, 615248, 615373, 615396, 615916, 607482, 607487, 608569, 609909 609915, 611407, 611615, 611878, 611879, 611880, 612158, 612877, 613122, 613172, 613252, 613286, 613424, 613426, 613642, 613694, 613697, 613740, 613881, 614672, 302045, 600884, 601154, 601493, 601494, 604145, 604288, 604765, 605582, 606685 more

Symptoms:

48 (show all 13)
  • cardiomyopathy/hypertrophic/dilated
  • autosomal dominant inheritance
  • sensorineural deafness/hearing loss
  • palmoplantar hyperkeratosis/keratoderma
  • lipoatrophy
  • myopathy
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • abnormal emg/electromyogram/electropmyography
  • polynuclear cells/neutrophils anomalies/neutropenia
  • autosomal recessive inheritance
  • x-linked dominant inheritance
  • x-linked recessive inheritance
  • stillbirth/neonatal death

HPO human phenotypes related to Cardiomyopathy, Dilated, 1ii:

(show all 10)
id Description Frequency HPO Source Accession
1 hypertrophic cardiomyopathy hallmark (90%) HP:0001639
2 sensorineural hearing impairment occasional (7.5%) HP:0000407
3 palmoplantar keratoderma occasional (7.5%) HP:0000982
4 abnormality of neutrophils occasional (7.5%) HP:0001874
5 myopathy occasional (7.5%) HP:0003198
6 emg abnormality occasional (7.5%) HP:0003457
7 lipoatrophy occasional (7.5%) HP:0100578
8 autosomal dominant inheritance HP:0000006
9 dilated cardiomyopathy HP:0001644
10 mitral regurgitation HP:0001653

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1ii

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Drug clinical trials:

Search ClinicalTrials for Cardiomyopathy, Dilated, 1ii

Search NIH Clinical Center for Cardiomyopathy, Dilated, 1ii

Genetic Tests for Cardiomyopathy, Dilated, 1ii

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Anatomical Context for Cardiomyopathy, Dilated, 1ii

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MalaCards organs/tissues related to Cardiomyopathy, Dilated, 1ii:

32
Neutrophil

Animal Models for Cardiomyopathy, Dilated, 1ii or affiliated genes

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MGI Mouse Phenotypes related to Cardiomyopathy, Dilated, 1ii:

36 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053819.7VCL, PRDM16, LDB3, PSEN1, PSEN2, ACTG1
2MP:00053889.6PRDM16, LDB3, PSEN1, PSEN2, CSRP3, RAF1
3MP:00053829.6RAF1, PSEN2, PSEN1, PRDM16, VCL
4MP:00053869.2LAMA4, FKTN, TCAP, LDB3, PSEN1, PSEN2
5MP:00036318.8LAMA4, VCL, FKTN, PRDM16, PSEN1, PSEN2
6MP:00053768.8LAMA4, FKTN, TCAP, LDB3, PSEN1, PSEN2
7MP:00053698.8RAF1, LAMA4, VCL, FKTN, TCAP, LDB3
8MP:00053788.7LAMA4, VCL, FKTN, PRDM16, LDB3, PSEN1
9MP:00053858.4LDB3, PRDM16, TCAP, VCL, LAMA4, PSEN1
10MP:00053848.3DSG2, VCL, FKTN, TCAP, PSEN1, PSEN2
11MP:00107688.0PRDM16, FKTN, VCL, DSG2, LAMA4, LDB3

Publications for Cardiomyopathy, Dilated, 1ii

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Variations for Cardiomyopathy, Dilated, 1ii

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UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Dilated, 1ii:

64
id Symbol AA change Variation ID SNP ID
1CRYABp.Gly154SerVAR_070035
2CRYABp.Arg157HisVAR_070036

Clinvar genetic disease variations for Cardiomyopathy, Dilated, 1ii:

6 (show all 94)
id Gene Name Type Significance SNP ID Assembly Location
1DMDDMD, EX1DELdeletionPathogenic
2DMDDMD, IVS1, G-T, +1single nucleotide variantPathogenic
3DMDNM_004006.2(DMD): c.835A> G (p.Thr279Ala)single nucleotide variantPathogenicrs128627255GRCh37Chr X, 32716112: 32716112
4DMDDMD, ALU INSinsertionPathogenic
5DMDDMD, 16-BP DELdeletionPathogenic
6VCLVCL, 3-BP DEL, 2862GTTdeletionPathogenic
7TNNT2NM_000364.3(TNNT2): c.266T> A (p.Ile89Asn)single nucleotide variantPathogenicrs121964855GRCh37Chr 1, 201334766: 201334766
8TNNT2NM_000364.3(TNNT2): c.649_651delAAG (p.Lys217del)deletionPathogenicrs121964859GRCh37Chr 1, 201331100: 201331102
9TNNT2NM_000364.3(TNNT2): c.451C> T (p.Arg151Trp)single nucleotide variantPathogenicrs74315379GRCh37Chr 1, 201333464: 201333464
10TNNT2NM_000364.3(TNNT2): c.421C> T (p.Arg141Trp)single nucleotide variantLikely pathogenic, Pathogenicrs74315380GRCh37Chr 1, 201333494: 201333494
11TNNT2NM_000364.3(TNNT2): c.635G> T (p.Arg212Leu)single nucleotide variantPathogenicrs121964860GRCh37Chr 1, 201331116: 201331116
12TNNT2NM_000364.3(TNNT2): c.829G> A (p.Asp277Asn)single nucleotide variantPathogenicrs121964861GRCh37Chr 1, 201328764: 201328764
13TNNI3TNNI3, A2Vsingle nucleotide variantPathogenic
14TNNI3NM_000363.4(TNNI3): c.106A> C (p.Lys36Gln)single nucleotide variantPathogenicrs267607130GRCh37Chr 19, 55668420: 55668420
15TNNI3NM_000363.4(TNNI3): c.555C> G (p.Asn185Lys)single nucleotide variantPathogenicrs267607129GRCh37Chr 19, 55663280: 55663280
16TNNC1NM_003280.2(TNNC1): c.476G> A (p.Gly159Asp)single nucleotide variantPathogenicrs104893823GRCh37Chr 3, 52485301: 52485301
17TPM1NM_001018005.1(TPM1): c.160G> A (p.Glu54Lys)single nucleotide variantPathogenicrs104894505GRCh37Chr 15, 63336271: 63336271
18TPM1NM_001018005.1(TPM1): c.118G> A (p.Glu40Lys)single nucleotide variantPathogenicrs104894501GRCh37Chr 15, 63336229: 63336229
19TTNTTN, 2-BP INS, 43628ATinsertionPathogenic
20TTNNM_001256850.1(TTN): c.2926T> C (p.Trp976Arg)single nucleotide variantPathogenicrs267607155GRCh37Chr 2, 179647707: 179647707
21TTNNM_001256850.1(TTN): c.2228C> T (p.Ala743Val)single nucleotide variantPathogenicrs267607157GRCh37Chr 2, 179650717: 179650717
22TTNNM_001256850.1(TTN): c.160G> A (p.Val54Met)single nucleotide variantPathogenicrs139517732GRCh37Chr 2, 179667000: 179667000
23TTNNM_001256850.1(TTN): c.12157C> T (p.Gln4053Ter)single nucleotide variantPathogenicrs267607158GRCh37Chr 2, 179604852: 179604852
24TTNNM_003319.4(TTN): c.13250G> A (p.Ser4417Asn)single nucleotide variantPathogenicrs147879266GRCh37Chr 2, 179602841: 179602841
25TMPONM_003276.2(TMPO): c.2068C> T (p.Arg690Cys)single nucleotide variantPathogenicrs17028450GRCh37Chr 12, 98928103: 98928103
26NM_002667.3(PLN): c.25C> T (p.Arg9Cys)single nucleotide variantPathogenicrs111033559GRCh37Chr 6, 118880109: 118880109
27PLNPLN, 3-BP DEL, 39AGAdeletionPathogenic
28MYH7NM_000257.3(MYH7): c.1594T> C (p.Ser532Pro)single nucleotide variantPathogenicrs121913642GRCh37Chr 14, 23897088: 23897088
29MYH7NM_000257.3(MYH7): c.2292C> G (p.Phe764Leu)single nucleotide variantPathogenicrs121913643GRCh37Chr 14, 23894622: 23894622
30MYH7NM_000257.3(MYH7): c.667G> A (p.Ala223Thr)single nucleotide variantPathogenicrs121913645GRCh37Chr 14, 23900859: 23900859
31MYH7NM_000257.3(MYH7): c.1925C> T (p.Ser642Leu)single nucleotide variantPathogenicrs121913646GRCh37Chr 14, 23896480: 23896480
32MYH6NM_002471.3(MYH6): c.2489C> T (p.Pro830Leu)single nucleotide variantPathogenicrs267606906GRCh37Chr 14, 23863473: 23863473
33NM_002471.3(MYH6): c.3010G> T (p.Ala1004Ser)single nucleotide variantPathogenicrs143978652GRCh37Chr 14, 23862646: 23862646
34MYH6NM_002471.3(MYH6): c.4369G> A (p.Glu1457Lys)single nucleotide variantPathogenicrs267606905GRCh37Chr 14, 23857123: 23857123
35MYH7NM_000257.3(MYH7): c.5378_5380delTGC (p.Leu1793del)deletionPathogenicGRCh37Chr 14, 23884383: 23884385
36DESNM_001927.3(DES): c.1353C> G (p.Ile451Met)single nucleotide variantPathogenicrs121913002GRCh37Chr 2, 220290449: 220290449
37PSEN1NM_000021.3(PSEN1): c.998A> G (p.Asp333Gly)single nucleotide variantPathogenicrs121917809GRCh37Chr 14, 73678519: 73678519
38ACTN2NM_001103.3(ACTN2): c.26A> G (p.Gln9Arg)single nucleotide variantPathogenicrs121434525GRCh37Chr 1, 236849999: 236849999
39NM_005159.4(ACTC1): c.941G> A (p.Arg314His)single nucleotide variantPathogenicrs121912673GRCh37Chr 15, 35083364: 35083364
40NM_005159.4(ACTC1): c.1088A> G (p.Glu363Gly)single nucleotide variantPathogenicrs121912674GRCh37Chr 15, 35082659: 35082659
41RBM20NM_001134363.2(RBM20): c.1913C> T (p.Pro638Leu)single nucleotide variantPathogenicrs267607003GRCh37Chr 10, 112572068: 112572068
42RBM20NM_001134363.2(RBM20): c.1901G> A (p.Arg634Gln)single nucleotide variantPathogenicrs267607001GRCh37Chr 10, 112572056: 112572056
43RBM20NM_001134363.2(RBM20): c.1906C> A (p.Arg636Ser)single nucleotide variantLikely pathogenicrs267607002GRCh37Chr 10, 112572061: 112572061
44RBM20NM_001134363.2(RBM20): c.1907G> A (p.Arg636His)single nucleotide variantLikely pathogenicrs267607004GRCh37Chr 10, 112572062: 112572062
45RBM20NM_001134363.2(RBM20): c.1909A> G (p.Ser637Gly)single nucleotide variantPathogenicrs267607005GRCh37Chr 10, 112572064: 112572064
46PLNPLN, -36A-Csingle nucleotide variantPathogenic
47BAG3BAG3, EX4DELdeletionPathogenic
48BAG3NM_004281.3(BAG3): c.211C> T (p.Arg71Trp)single nucleotide variantPathogenicrs387906874GRCh37Chr 10, 121429393: 121429393
49BAG3NM_004281.3(BAG3): c.367C> T (p.Arg123Ter)single nucleotide variantLikely pathogenicrs387906875GRCh37Chr 10, 121429549: 121429549
50BAG3BAG3, 1-BP DEL, 652CdeletionPathogenic
51BAG3NM_004281.3(BAG3): c.1430G> A (p.Arg477His)single nucleotide variantPathogenicrs387906876GRCh37Chr 10, 121436496: 121436496
52GATAD1NM_021167.4(GATAD1): c.304T> C (p.Ser102Pro)single nucleotide variantPathogenicrs387907188GRCh37Chr 7, 92078120: 92078120
53MYPNNM_032578.3(MYPN): c.3263G> A (p.Arg1088His)single nucleotide variantPathogenicrs71584501GRCh37Chr 10, 69957213: 69957213
54MYPNNM_032578.3(MYPN): c.3335C> T (p.Pro1112Leu)single nucleotide variantPathogenicrs71534278GRCh37Chr 10, 69959174: 69959174
55MYPNNM_032578.3(MYPN): c.3583G> A (p.Val1195Met)single nucleotide variantPathogenicrs71534280GRCh37Chr 10, 69961675: 69961675
56MYPNNM_032578.3(MYPN): c.59A> G (p.Tyr20Cys)single nucleotide variantPathogenicrs140148105GRCh37Chr 10, 69881254: 69881254
57FKTNFKTN, 3-KB INS, SVA RETROTRANSPOSON INSinsertionPathogenic
58FKTNNM_001079802.1(FKTN): c.1073A> C (p.Gln358Pro)single nucleotide variantPathogenicrs119463993GRCh37Chr 9, 108382243: 108382243
59FKTNNM_001079802.1(FKTN): c.536G> C (p.Arg179Thr)single nucleotide variantPathogenicrs119463994GRCh37Chr 9, 108366662: 108366662
60NEXNNEXN, 3-BP DEL, 1948GGAdeletionPathogenic
61NEXNNM_144573.3(NEXN): c.1955A> G (p.Tyr652Cys)single nucleotide variantPathogenicrs137853197GRCh37Chr 1, 78408441: 78408441
62NEXNNM_144573.3(NEXN): c.1831C> A (p.Pro611Thr)single nucleotide variantPathogenicrs137853198GRCh37Chr 1, 78408317: 78408317
63LDB3NM_007078.2(LDB3): c.1051A> G (p.Thr351Ala)single nucleotide variantLikely pathogenicrs138251566GRCh37Chr 10, 88466442: 88466442
64SCN5ANM_000335.4(SCN5A): c.5504T> C (p.Ile1835Thr)single nucleotide variantPathogenicrs45563942GRCh37Chr 3, 38592356: 38592356
65BAG3NM_004281.3(BAG3): c.652C> T (p.Arg218Trp)single nucleotide variantPathogenicrs397514506GRCh37Chr 10, 121431911: 121431911
66BAG3NM_004281.3(BAG3): c.1385T> C (p.Leu462Pro)single nucleotide variantPathogenicrs397514507GRCh37Chr 10, 121436451: 121436451
67CRYABNM_001885.2(CRYAB): c.470G> A (p.Arg157His)single nucleotide variantPathogenicrs141638421GRCh37Chr 11, 111779546: 111779546
68CRYABNM_001885.2(CRYAB): c.460G> A (p.Gly154Ser)single nucleotide variantPathogenicrs150516929GRCh37Chr 11, 111779556: 111779556
69MYBPC3NM_000256.3(MYBPC3): c.1468G> A (p.Gly490Arg)single nucleotide variantPathogenicrs200625851GRCh37Chr 11, 47364285: 47364285
70MYBPC3NM_000256.3(MYBPC3): c.2497G> A (p.Ala833Thr)single nucleotide variantPathogenicrs199865688GRCh37Chr 11, 47359047: 47359047
71MYH7NM_000257.3(MYH7): c.5740G> A (p.Glu1914Lys)single nucleotide variantLikely pathogenicrs397516254GRCh37Chr 14, 23883018: 23883018
72LDB3NM_007078.2(LDB3): c.1035C> G (p.Ile345Met)single nucleotide variantPathogenicrs121908336GRCh37Chr 10, 88466426: 88466426
73LDB3NM_001080116.1(LDB3): c.383A> T (p.Lys128Met)single nucleotide variantPathogenicrs121908339GRCh37Chr 10, 88446864: 88446864
74LDB3NM_007078.2(LDB3): c.2017G> A (p.Asp673Asn)single nucleotide variantPathogenicrs45514002GRCh37Chr 10, 88485932: 88485932
75LAMA4NM_002290.4(LAMA4): c.3217C> T (p.Arg1073Ter)single nucleotide variantPathogenicrs372615994GRCh37Chr 6, 112460366: 112460366
76LAMA4NM_002290.4(LAMA4): c.2828C> T (p.Pro943Leu)single nucleotide variantPathogenicrs387907365GRCh37Chr 6, 112462089: 112462089
77MYPNNM_032578.3(MYPN): c.2882C> T (p.Pro961Leu)single nucleotide variantPathogenicGRCh37Chr 10, 69948840: 69948840
78TCAPNM_003673.3(TCAP): c.260G> A (p.Arg87Gln)single nucleotide variantPathogenicrs121434298GRCh37Chr 17, 37822118: 37822118
79PRDM16NM_022114.3(PRDM16): c.2104A> T (p.Lys702Ter)single nucleotide variantPathogenicrs397514742GRCh37Chr 1, 3328865: 3328865
80PRDM16PRDM16, 1-BP DUP, 1573CduplicationPathogenic
81PRDM16NM_022114.3(PRDM16): c.2447A> G (p.Asn816Ser)single nucleotide variantPathogenicrs397514743GRCh37Chr 1, 3329208: 3329208
82MYBPC3NM_000256.3(MYBPC3): c.3791G> T (p.Cys1264Phe)single nucleotide variantPathogenicrs397514751GRCh37Chr 11, 47353646: 47353646
83MYBPC3NM_000256.3(MYBPC3): c.2618C> T (p.Pro873Leu)single nucleotide variantPathogenicrs371401403GRCh37Chr 11, 47357547: 47357547
84MYBPC3MYBPC3, 2-BP DEL, 2919CTdeletionPathogenic
85ABCC9ABCC9, 3-BP DEL, 4-BP INS, EX38indelPathogenic
86ABCC9NM_020297.3(ABCC9): c.4537G> A (p.Ala1513Thr)single nucleotide variantPathogenicrs121909304GRCh37Chr 12, 21954091: 21954091
87SGCDSGCD, 3-BP DEL, 710AGA/711GAAdeletionPathogenic
88SGCDNM_000337.5(SGCD): c.451T> G (p.Ser151Ala)single nucleotide variantPathogenicrs121909298GRCh37Chr 5, 156022010: 156022010
89MYBPC3NM_000256.3(MYBPC3): c.2843A> C (p.Asn948Thr)single nucleotide variantPathogenicrs121909376GRCh37Chr 11, 47356655: 47356655
90SDHANM_004168.3(SDHA): c.1664G> A (p.Gly555Glu)single nucleotide variantPathogenicrs137852768GRCh37Chr 5, 251453: 251453
91CSRP3NM_003476.4(CSRP3): c.10T> C (p.Trp4Arg)single nucleotide variantPathogenicrs45550635GRCh37Chr 11, 19213986: 19213986
92CSRP3NM_003476.4(CSRP3): c.206A> G (p.Lys69Arg)single nucleotide variantPathogenicrs137852764GRCh37Chr 11, 19209758: 19209758
93PSEN2NM_000447.2(PSEN2): c.389C> T (p.Ser130Leu)single nucleotide variantPathogenicrs63750197GRCh37Chr 1, 227073271: 227073271
94SCN5ANM_000335.4(SCN5A): c.2549_2550dupTG (p.Phe851Cysfs)duplicationPathogenicrs397514450GRCh37Chr 3, 38627419: 38627420

Expression for genes affiliated with Cardiomyopathy, Dilated, 1ii

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Expression patterns in normal tissues for genes affiliated with Cardiomyopathy, Dilated, 1ii

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Pathways for genes affiliated with Cardiomyopathy, Dilated, 1ii

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Pathways related to Cardiomyopathy, Dilated, 1ii according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.2PSEN1, PSEN2
210.2PSEN1, PSEN2
39.9RAF1, PLN, ACTG1
4
Show member pathways
9.7LAMA4, PLA2G2A, PLN, RAF1
5
Show member pathways
9.7RAF1, PLA2G2A, ACTG1, LAMA4
6
Show member pathways
Integrin-mediated cell adhesion37
Focal Adhesion37
9.7LAMA4, VCL, ACTG1, RAF1
7
Show member pathways
9.7RAF1, ACTG1, VCL, LAMA4
8
Show member pathways
9.6ACTC1, ACTG1, TCAP, VCL
9
Show member pathways
Neurophysiological process Receptor mediated axon growth repulsion60
Pathogenic Escherichia coli infection37
9.6ACTG1, ACTC1, RAF1
10
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility60
Cytoskeleton remodeling Integrin outside in signaling60
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases60
Cell adhesion Tight junctions60
Development MAG dependent inhibition of neurite outgrowth60
9.4RAF1, ACTC1, ACTG1, VCL
11
Show member pathways
9.4LAMA4, VCL, PSEN1, PSEN2, ACTG1, RAF1
12
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy37
9.2DSG2, ACTG1, ACTC1, PLN
139.2ACTC1, ACTG1, VCL, DSG2

Compounds for genes affiliated with Cardiomyopathy, Dilated, 1ii

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Compounds related to Cardiomyopathy, Dilated, 1ii according to GeneCards/GeneDecks:

(show all 23)
idCompoundScoreTop Affiliating Genes
1s-1824410.6PSEN1, PSEN2
2jlk 66110.6PSEN2, PSEN1
3mrk 5606110.6PSEN2, PSEN1
4begacestat6110.6PSEN1, PSEN2
5l-685,4586110.5PSEN1, PSEN2
6dapt6110.5PSEN1, PSEN2
7pip24410.4VCL, ACTG1, PLA2G2A
8laccer4410.2PLA2G2A, RAF1
9choline44 24 1112.1RAF1, PLA2G2A, PSEN2, PSEN1
10lactacystin4410.1RAF1, PSEN2, PSEN1
11biotin44 24 1112.0ACTC1, PSEN2, PSEN1
1212-o-tetradecanoylphorbol 13-acetate4410.0VCL, PSEN1, PSEN2, RAF1
13gf 109203x44 6111.0RAF1, PLA2G2A, VCL
14cytochalasin d44 6110.9VCL, ACTG1, RAF1
15cycloheximide449.9VCL, PSEN1, PSEN2, PLA2G2A, RAF1
16h2o2449.9RAF1, PLA2G2A, PSEN2, PSEN1, VCL
17valine449.8RAF1, PSEN2, PSEN1
18phosphatidylcholine449.7TAZ, RAF1, PLA2G2A
19phosphatidylserine44 28 1111.5VCL, PLA2G2A, RAF1
20vegf449.5VCL, PSEN2, ACTC1, PLA2G2A, RAF1
21retinoic acid44 2410.4PSEN1, PSEN2, ACTC1, PLA2G2A, RAF1
22calcium44 50 24 1111.9PLN, DSG2, VCL, MYPN, PSEN1, PSEN2
23tyrosine448.5DSG2, VCL, PSEN1, PSEN2, ACTC1, FHL2

GO Terms for genes affiliated with Cardiomyopathy, Dilated, 1ii

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Cellular components related to Cardiomyopathy, Dilated, 1ii according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ciliary rootletGO:03525310.3PSEN2, PSEN1
2perinuclear region of cytoplasmGO:04847110.0PLN, PSEN2, PSEN1, LDB3
3I bandGO:0316749.9MYPN, TCAP, ACTC1
4endoplasmic reticulumGO:0057839.9FKTN, PSEN1, PSEN2, PLA2G2A, PLN
5cytoskeletonGO:0058569.9CSRP3, ACTG1, LDB3, VCL
6pseudopodiumGO:0311439.7LDB3, RAF1
7Z discGO:0300189.5CSRP3, FHL2, PSEN2, PSEN1, LDB3, TCAP

Biological processes related to Cardiomyopathy, Dilated, 1ii according to GeneCards/GeneDecks:

(show all 29)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of coagulationGO:05082010.6PSEN1, PSEN2
2myeloid leukocyte differentiationGO:00257310.6PSEN2, PSEN1
3detection of muscle stretchGO:03599510.6CSRP3, TCAP
4cardiac muscle hypertrophyGO:00330010.6TCAP, CSRP3
5amyloid precursor protein catabolic processGO:04298710.6PSEN1, PSEN2
6endoplasmic reticulum calcium ion homeostasisGO:03246910.5PSEN1, PSEN2
7beta-amyloid metabolic processGO:05043510.5PSEN2, PSEN1
8anagenGO:04264010.5PSEN2, PSEN1
9dorsal/ventral neural tube patterningGO:02190410.5PSEN2, PSEN1
10brain morphogenesisGO:04885410.5PSEN1, PSEN2
11hematopoietic progenitor cell differentiationGO:00224410.5PSEN1, PSEN2
12calcium ion transportGO:00681610.5PLN, PSEN2, PSEN1
13somitogenesisGO:00175610.4TCAP, PSEN1, PSEN2
14regulation of the force of heart contractionGO:00202610.4PLN, CSRP3
15cell fate specificationGO:00170810.4PSEN1, PSEN2
16T cell activation involved in immune responseGO:00228610.4PSEN2, PSEN1
17sarcomere organizationGO:04521410.3MYPN, TCAP, LDB3, ACTG1
18cardiac muscle tissue developmentGO:04873810.3TAZ, CSRP3, PLN
19membrane protein ectodomain proteolysisGO:00650910.3PSEN2, PSEN1
20negative regulation of protein complex assemblyGO:03133310.3PSEN2, RAF1
21skeletal muscle thin filament assemblyGO:03024010.3TCAP, ACTC1
22Notch receptor processingGO:00722010.2PSEN1, PSEN2
23cardiac muscle tissue morphogenesisGO:05500810.2ACTC1, TCAP
24cardiac myofibril assemblyGO:05500310.2CSRP3, ACTC1, TCAP
25brown fat cell differentiationGO:05087310.2PRDM16, LAMA4
26negative regulation of extrinsic apoptotic signaling pathway via death domain receptorsGO:190204210.1RAF1, PSEN2
27protein processingGO:0164859.9PSEN2, PSEN1
28cardiac muscle contractionGO:0600489.8TAZ, CSRP3, ACTC1, PSEN2, TCAP
29negative regulation of apoptotic processGO:0430669.1RAF1, FHL2, ACTC1, PSEN1

Molecular functions related to Cardiomyopathy, Dilated, 1ii according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1muscle alpha-actinin bindingGO:05137110.3MYPN, LDB3
2aspartic-type endopeptidase activityGO:00419010.2PSEN2, PSEN1
3endopeptidase activityGO:00417510.2PSEN2, PSEN1
4cadherin bindingGO:0452969.9PSEN1, VCL
5identical protein bindingGO:0428029.4ACTG1, PLN, FHL2, RAF1
6protein bindingGO:0055158.6RAF1, VCL, MYPN, TCAP, PRDM16, LDB3

Products for genes affiliated with Cardiomyopathy, Dilated, 1ii

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  • Antibodies
  • Proteins
  • Lysates

Sources for Cardiomyopathy, Dilated, 1ii

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet