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Human Gene Set: HP_ABNORMAL_PULMONARY_VALVE_CUSP_MORPHOLOGY
Standard name
HP_ABNORMAL_PULMONARY_VALVE_CUSP_MORPHOLOGY
Systematic name
M47271
Brief description
Abnormal pulmonary valve cusp morphology
Full description or abstract
Any structural anomaly of the pulmonary valve leaflets. [Fyler:1652]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0031566
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0031566
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
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grp
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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
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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 5 genes
Gene families
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Show members
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5 source identifiers mapped to 5 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
145173
145173
B3GLCT
beta 3-glucosyltransferase [Source:HGNC Symb...
1616
1616
DAXX
death domain associated protein [Source:HGNC...
546
546
ATRX
ATRX chromatin remodeler [Source:HGNC Symbol...
7046
7046
TGFBR1
transforming growth factor beta receptor 1 [...
7048
7048
TGFBR2
transforming growth factor beta receptor 2 [...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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