MCID: ZSP001
MIFTS: 23

Zaspopathy malady

Summaries for Zaspopathy

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Sources:
63Wikipedia, 32MalaCards
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Wikipedia:63 Zaspopathy, also called ZASP-related myofibril myopathy, is a novel autosomal dominant form of... more...

MalaCards: Zaspopathy is related to myopathy and myopathy, myofibrillar, 4. An important gene associated with Zaspopathy is LDB3 (LIM domain binding 3), and among its related pathways are Hypertrophic cardiomyopathy (HCM) and Striated Muscle Contraction. The compounds ryanodine and gold have been mentioned in the context of this disorder. Related mouse phenotypes are cardiovascular system and homeostasis/metabolism.

Aliases & Classifications for Zaspopathy

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20GeneTests
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Aliases & Descriptions:

zaspopathy 20


Related Diseases for Zaspopathy

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Zaspopathy:



Diseases related to zaspopathy

Clinical Features for Zaspopathy

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Drugs & Therapeutics for Zaspopathy

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Zaspopathy

Search CenterWatch for Zaspopathy

Genetic Tests for Zaspopathy

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20GeneTests
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Genetic tests related to Zaspopathy:

id Genetic test Affiliating Genes
1 Zaspopathy20 LDB3

Anatomical Context for Zaspopathy

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Animal Models for Zaspopathy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Zaspopathy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053857.7GNE, TTN, DES, FLNC, LDB3
2MP:00053767.6TTN, GNE, DYSF, DES, LDB3
3MP:00053697.2GNE, LDB3, TTN, DES, FLNC, DYSF
4MP:00053867.1LDB3, DES, FLNC, DYSF, GNE, TTN

Publications for Zaspopathy

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Genetic Variations for Zaspopathy

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Expression for genes affiliated with Zaspopathy

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Zaspopathy

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Pathways for genes affiliated with Zaspopathy

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Sources:
29KEGG, 37NCBI BioSystems Database, 53Reactome
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Pathways related to Zaspopathy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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9.3TTN, DES
2
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9.3TTN, DES

Compounds for genes affiliated with Zaspopathy

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Sources:
44Novoseek, 28IUPHAR, 59Tocris Bioscience
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Compounds related to Zaspopathy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ryanodine44 28 5911.3TTN, DES
2gold449.3TTN, DES
3ganglioside449.0DES, GNE
4creatinine448.4TTN, DES, DYSF

GO Terms for genes affiliated with Zaspopathy

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Sources:
16Gene Ontology
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Cellular components related to Zaspopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sarcolemmaGO:0423839.0MYOT, DES, FLNC
2Z discGO:0300187.8LDB3, TTN, MYOT, DES, FLNC

Biological processes related to Zaspopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1muscle filament slidingGO:0300499.3TTN, DES
2sarcomere organizationGO:0452149.3LDB3, TTN
3muscle contractionGO:0069368.8TTN, MYOT, DES

Molecular functions related to Zaspopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1muscle alpha-actinin bindingGO:0513719.5LDB3, TTN
2structural constituent of muscleGO:0083079.2TTN, MYOT
3cytoskeletal protein bindingGO:0080929.0LDB3, FLNC, DES
4protein bindingGO:0055157.3DYSF, FLNC, DES, MYOT, TTN, LDB3

Products for genes affiliated with Zaspopathy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Zaspopathy

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet