MCID: PLN012
MIFTS: 14

Pln-Related Dilated Cardiomyopathy malady

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Pln-Related Dilated Cardiomyopathy

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Aliases & Descriptions for Pln-Related Dilated Cardiomyopathy:

Name: Pln-Related Dilated Cardiomyopathy 22
Cardiomyopathy, Dilated, 1p 65
Cardiomyopathy, Dilated 1p 24
 
Dilated Cardiomyopathy 1p 22
Cmd1p 22

Classifications:



External Ids:

UMLS65 C1835928

Summaries for Pln-Related Dilated Cardiomyopathy

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MalaCards based summary: Pln-Related Dilated Cardiomyopathy, also known as cardiomyopathy, dilated, 1p, is related to cardiomyopathy, dilated, 1p and cardiomyopathy, dilated, 1a. An important gene associated with Pln-Related Dilated Cardiomyopathy is PLN (Phospholamban).

Related Diseases for Pln-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 Cryab-Related Dilated Cardiomyopathy
Mypn-Related 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 Pln-Related Dilated Cardiomyopathy via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cardiomyopathy, dilated, 1p11.0
2cardiomyopathy, dilated, 1a10.0

Symptoms for Pln-Related Dilated Cardiomyopathy

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Drugs & Therapeutics for Pln-Related Dilated Cardiomyopathy

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Pln-Related Dilated Cardiomyopathy

Genetic Tests for Pln-Related Dilated Cardiomyopathy

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Genetic tests related to Pln-Related Dilated Cardiomyopathy:

id Genetic test Affiliating Genes
1 Pln-Related Dilated Cardiomyopathy22 PLN

Anatomical Context for Pln-Related Dilated Cardiomyopathy

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Animal Models for Pln-Related Dilated Cardiomyopathy or affiliated genes

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Publications for Pln-Related Dilated Cardiomyopathy

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Variations for Pln-Related Dilated Cardiomyopathy

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Clinvar genetic disease variations for Pln-Related Dilated Cardiomyopathy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NM_002667.4(PLN): c.25C> T (p.Arg9Cys)single nucleotide variantPathogenicrs111033559GRCh37Chr 6, 118880109: 118880109
2NM_002667.4(PLN): c.116T> G (p.Leu39Ter)single nucleotide variantLikely pathogenic, Pathogenicrs111033560GRCh37Chr 6, 118880200: 118880200
3NM_002667.4(PLN): c.40_42delAGA (p.Arg14del)deletionPathogenicrs397516784GRCh37Chr 6, 118880124: 118880126

Expression for genes affiliated with Pln-Related Dilated Cardiomyopathy

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

Pathways for genes affiliated with Pln-Related Dilated Cardiomyopathy

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GO Terms for genes affiliated with Pln-Related Dilated Cardiomyopathy

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Sources for Pln-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