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Human Gene Set: HP_ABNORMAL_CIRCULATING_HOMOCYSTEINE_CONCENTRATION
Standard name
HP_ABNORMAL_CIRCULATING_HOMOCYSTEINE_CONCENTRATION
Systematic name
M46189
Brief description
Abnormal circulating homocysteine concentration
Full description or abstract
An abnormality of a homocysteine metabolic process. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0010919
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0010919
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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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 16 genes
Gene families
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Categorize
these 16 genes by gene family
Show members
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16 source identifiers mapped to 16 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
191
191
AHCY
adenosylhomocysteinase [Source:HGNC Symbol;Ac...
25974
25974
MMACHC
metabolism of cobalamin associated C [Source:...
27249
27249
MMADHC
metabolism of cobalamin associated D [Source:...
3054
3054
HCFC1
host cell factor C1 [Source:HGNC Symbol;Acc:H...
4522
4522
MTHFD1
methylenetetrahydrofolate dehydrogenase, cycl...
4524
4524
MTHFR
methylenetetrahydrofolate reductase [Source:H...
4548
4548
MTR
5-methyltetrahydrofolate-homocysteine methylt...
4552
4552
MTRR
5-methyltetrahydrofolate-homocysteine methylt...
4780
4780
NFE2L2
NFE2 like bZIP transcription factor 2 [Source...
5052
5052
PRDX1
peroxiredoxin 1 [Source:HGNC Symbol;Acc:HGNC:...
51293
51293
CD320
CD320 molecule [Source:HGNC Symbol;Acc:HGNC:1...
55788
55788
LMBRD1
LMBR1 domain containing 1 [Source:HGNC Symbol...
5826
5826
ABCD4
ATP binding cassette subfamily D member 4 [So...
6573
6573
SLC19A1
solute carrier family 19 member 1 [Source:HGN...
84693
84693
MCEE
methylmalonyl-CoA epimerase [Source:HGNC Symb...
875
875
CBS
cystathionine beta-synthase [Source:HGNC Symb...
Version history
2023.1.Hs: Updated to HPO Release 2023-01-27.
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