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Human Gene Set: HP_ABNORMAL_CIRCULATING_COPPER_CONCENTRATION
Standard name
HP_ABNORMAL_CIRCULATING_COPPER_CONCENTRATION
Systematic name
M37667
Brief description
Abnormal circulating copper concentration
Full description or abstract
An abnormal concentration of copper. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0010836
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0010836
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
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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
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 14 genes
Gene families
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Categorize
these 14 genes by gene family
Show members
(
show
14 source identifiers mapped to 14 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
1174
1174
AP1S1
adaptor related protein complex 1 subunit ...
1317
1317
SLC31A1
solute carrier family 31 member 1 [Source:...
1356
1356
CP
ceruloplasmin [Source:HGNC Symbol;Acc:HGNC...
162
162
AP1B1
adaptor related protein complex 1 subunit ...
164656
164656
TMPRSS6
transmembrane serine protease 6 [Source:HG...
166378
166378
AFG2A
AFG2 AAA ATPase homolog A [Source:HGNC Sym...
22796
22796
COG2
component of oligomeric golgi complex 2 [S...
23545
23545
ATP6V0A2
ATPase H+ transporting V0 subunit a2 [Sour...
2495
2495
FTH1
ferritin heavy chain 1 [Source:HGNC Symbol...
537
537
ATP6AP1
ATPase H+ transporting accessory protein 1...
538
538
ATP7A
ATPase copper transporting alpha [Source:H...
540
540
ATP7B
ATPase copper transporting beta [Source:HG...
9197
9197
SLC33A1
solute carrier family 33 member 1 [Source:...
9997
9997
SCO2
synthesis of cytochrome C oxidase 2 [Sourc...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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