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Human Gene Set: HP_NONCOMPACTION_CARDIOMYOPATHY
Standard name
HP_NONCOMPACTION_CARDIOMYOPATHY
Systematic name
M38202
Brief description
Noncompaction cardiomyopathy
Full description or abstract
A type of cardiomyopathy characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber. [https://orcid.org/0000-0002-0736-9199, PMID:15210614, PMID:24282766]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0012817
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0012817
Filtered by similarity
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Source species
Homo sapiens
Contributed by
Human Phenotype Ontology Group (The Jackson Laboratory (JAX))
Source platform or
identifier namespace
Human_NCBI_Gene_ID
Dataset references
Download gene set
format:
grp
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gmt
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xml
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TSV metadata
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H: Hallmark
C1: Positional
C2: Curated
CGP: Chemical and Genetic Perturbations
CP: Canonical Pathways
CP:BIOCARTA: BioCarta Pathways
CP:KEGG_MEDICUS: KEGG Medicus Pathways
CP:PID: PID Pathways
CP:REACTOME: Reactome Pathways
CP:WIKIPATHWAYS: WikiPathways
CP:KEGG_LEGACY: KEGG Legacy Pathways
C3: Regulatory Target
MIR: microRNA Targets
MIR:MIRDB: miRDB
MIR:MIR_LEGACY: MIR_Legacy
TFT: Transcription Factor Targets
TFT:GTRD: GTRD
TFT:TFT_LEGACY: TFT_Legacy
C4: Computational
3CA: Curated Cancer Cell Atlas gene sets
CGN: Cancer Gene Neighborhoods
CM: Cancer Modules
C5: Ontology
GO: Gene Ontology
GO:BP: GO Biological Process
GO:CC: GO Cellular Component
GO:MF: GO Molecular Function
HPO: Human Phenotype Ontology
C6: Oncogenic Signature
C7: Immunologic Signature
IMMUNESIGDB: ImmuneSigDB
VAX: HIPC Vaccine Response
C8: Cell Type Signature
Compendia expression profiles
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NG-CHM interactive heatmaps
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GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)
Legacy heatmaps (PNG)
GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)
Advanced query
Further investigate
these 17 genes
Gene families
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Categorize
these 17 genes by gene family
Show members
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show
17 source identifiers mapped to 17 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
100151683
100151683
RNU4ATAC
RNA, U4atac small nuclear [Source:HG...
114803
114803
MYSM1
Myb like, SWIRM and MPN domains 1 [S...
131118
131118
DNAJC19
DnaJ heat shock protein family (Hsp4...
1837
1837
DTNA
dystrobrevin alpha [Source:HGNC Symb...
23417
23417
MLYCD
malonyl-CoA decarboxylase [Source:HG...
4633
4633
MYL2
myosin light chain 2 [Source:HGNC Sy...
4841
4841
NONO
non-POU domain containing octamer bi...
54675
54675
CRLS1
cardiolipin synthase 1 [Source:HGNC ...
57534
57534
MIB1
MIB E3 ubiquitin protein ligase 1 [S...
6262
6262
RYR2
ryanodine receptor 2 [Source:HGNC Sy...
6389
6389
SDHA
succinate dehydrogenase complex flav...
6390
6390
SDHB
succinate dehydrogenase complex iron...
6392
6392
SDHD
succinate dehydrogenase complex subu...
644096
644096
SDHAF1
succinate dehydrogenase complex asse...
6910
6910
TBX5
T-box transcription factor 5 [Source...
7168
7168
TPM1
tropomyosin 1 [Source:HGNC Symbol;Ac...
93649
93649
MYOCD
myocardin [Source:HGNC Symbol;Acc:HG...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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