MCID: CRD111
MIFTS: 11

Cardiomyopathy, Dilated, 1i malady

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

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MalaCards based summary: Cardiomyopathy, Dilated, 1i and has symptoms including An important gene associated with Cardiomyopathy, Dilated, 1i is DES (desmin).

Description from OMIM:46 604765

Aliases & Classifications for Cardiomyopathy, Dilated, 1i

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Cardiomyopathy, Dilated, 1i, Aliases & Descriptions:

Name: Cardiomyopathy, Dilated, 1i 46


Classifications:



Related Diseases for Cardiomyopathy, Dilated, 1i

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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

Symptoms for Cardiomyopathy, Dilated, 1i

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Clinical features from OMIM:

604765

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

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 dilated cardiomyopathy HP:0001644
3 reduced systolic function HP:0006673

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1i

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Drug clinical trials:

Search ClinicalTrials for Cardiomyopathy, Dilated, 1i

Search NIH Clinical Center for Cardiomyopathy, Dilated, 1i

Genetic Tests for Cardiomyopathy, Dilated, 1i

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Anatomical Context for Cardiomyopathy, Dilated, 1i

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

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Publications for Cardiomyopathy, Dilated, 1i

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Variations for Cardiomyopathy, Dilated, 1i

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

64
id Symbol AA change Variation ID SNP ID
1DESp.Ile451MetVAR_018773rs121913002

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

6
id Gene Name Type Significance SNP ID Assembly Location
1DESNM_001927.3(DES): c.1353C> G (p.Ile451Met)single nucleotide variantPathogenicrs121913002GRCh37Chr 2, 220290449: 220290449

Expression for genes affiliated with Cardiomyopathy, Dilated, 1i

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

Search GEO for disease gene expression data for Cardiomyopathy, Dilated, 1i.

Pathways for genes affiliated with Cardiomyopathy, Dilated, 1i

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Compounds for genes affiliated with Cardiomyopathy, Dilated, 1i

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

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Products for genes affiliated with Cardiomyopathy, Dilated, 1i

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  • Antibodies
  • Proteins
  • Lysates

Sources for Cardiomyopathy, Dilated, 1i

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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