MCID: CRD064
MIFTS: 11

Cardiomyopathy, Dilated, 1ff malady

Genetic diseases, Cardiovascular diseases, Rare diseases, Muscle diseases, Ear diseases, Neuronal diseases categories

Summaries for Cardiomyopathy, Dilated, 1ff

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Sources:
48OMIM, 34MalaCards
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MalaCards: Cardiomyopathy, Dilated, 1ff An important gene associated with Cardiomyopathy, Dilated, 1ff is TNNI3 (troponin I type 3 (cardiac)).

Description from OMIM:48 613286

Aliases & Classifications for Cardiomyopathy, Dilated, 1ff

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48OMIM
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Classifications:



Aliases & Descriptions:

cardiomyopathy, dilated, 1ff 48


Related Diseases for Cardiomyopathy, Dilated, 1ff

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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, 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, 1s Cardiomyopathy, Dilated, 1u
Cardiomyopathy, Dilated, 1r Cardiomyopathy, Dilated, 1n
Cardiomyopathy, Dilated, 1bb Cardiomyopathy, Dilated, 2a
cardiomyopathy, dilated, 1ff

Symptoms for Cardiomyopathy, Dilated, 1ff

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48OMIM
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Clinical features from OMIM:

613286

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1ff

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Cardiomyopathy, Dilated, 1ff

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Anatomical Context for Cardiomyopathy, Dilated, 1ff

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

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Publications for Cardiomyopathy, Dilated, 1ff

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Variations for Cardiomyopathy, Dilated, 1ff

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Dilated, 1ff:

65
id Symbol AA change Variation ID SNP ID
1TNNI3p.Lys36GlnVAR_063548
2TNNI3p.Asn185LysVAR_063549
3TNNI3p.Ala116GlyVAR_067264

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

1
id Gene Name Type Significance SNP ID Assembly Location
1TNNI3NM_000363.4(TNNI3): c.106A> C (p.Lys36Gln)single nucleotide variantPathogenicrs267607130GRCh37Chr 19, 55668420: 55668420
2TNNI3NM_000363.4(TNNI3): c.555C> G (p.Asn185Lys)single nucleotide variantPathogenicrs267607129GRCh37Chr 19, 55663280: 55663280

Expression for genes affiliated with Cardiomyopathy, Dilated, 1ff

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cardiomyopathy, Dilated, 1ff

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Pathways for genes affiliated with Cardiomyopathy, Dilated, 1ff

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Compounds for genes affiliated with Cardiomyopathy, Dilated, 1ff

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

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Products for genes affiliated with Cardiomyopathy, Dilated, 1ff

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cardiomyopathy, Dilated, 1ff

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet