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Human Gene Set: HP_ABNORMAL_CIRCULATING_CERULOPLASMIN_CONCENTRATION
Standard name
HP_ABNORMAL_CIRCULATING_CERULOPLASMIN_CONCENTRATION
Systematic name
M41585
Brief description
Abnormal circulating ceruloplasmin concentration
Full description or abstract
Any deviation of the concentration of ceruloplasmin in the blood from the normal range. [PMID:32119309]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0033144
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0033144
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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gmt
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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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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 11 genes
Gene families
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Categorize
these 11 genes by gene family
Show members
(
show
11 source identifiers mapped to 11 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
1174
1174
AP1S1
adaptor related protein complex 1 subunit s...
1317
1317
SLC31A1
solute carrier family 31 member 1 [Source:H...
1356
1356
CP
ceruloplasmin [Source:HGNC Symbol;Acc:HGNC:...
147007
147007
TMEM199
transmembrane protein 199 [Source:HGNC Symb...
162
162
AP1B1
adaptor related protein complex 1 subunit b...
22796
22796
COG2
component of oligomeric golgi complex 2 [So...
2495
2495
FTH1
ferritin heavy chain 1 [Source:HGNC Symbol;...
538
538
ATP7A
ATPase copper transporting alpha [Source:HG...
540
540
ATP7B
ATPase copper transporting beta [Source:HGN...
84317
84317
CCDC115
coiled-coil domain containing 115 [Source:H...
9197
9197
SLC33A1
solute carrier family 33 member 1 [Source:H...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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