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Human Gene Set: HP_ABNORMALITY_OF_FOLATE_METABOLISM
Standard name
HP_ABNORMALITY_OF_FOLATE_METABOLISM
Systematic name
M43429
Brief description
Abnormality of folate metabolism
Full description or abstract
An abnormality of the metabolism of folic acid, which is also known as vitamin B9. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0012335
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0012335
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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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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these 14 genes by gene family
Show members
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show
14 source identifiers mapped to 14 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
10841
10841
FTCD
formimidoyltransferase cyclodeaminase [Sou...
113235
113235
SLC46A1
solute carrier family 46 member 1 [Source:...
1719
1719
DHFR
dihydrofolate reductase [Source:HGNC Symbo...
3117
3117
HLA-DQA1
major histocompatibility complex, class II...
3119
3119
HLA-DQB1
major histocompatibility complex, class II...
374879
374879
ZNF699
zinc finger protein 699 [Source:HGNC Symbo...
4548
4548
MTR
5-methyltetrahydrofolate-homocysteine meth...
50640
50640
PNPLA8
patatin like phospholipase domain containi...
55593
55593
OTUD5
OTU deubiquitinase 5 [Source:HGNC Symbol;A...
6573
6573
SLC19A1
solute carrier family 19 member 1 [Source:...
6711
6711
SPTBN1
spectrin beta, non-erythrocytic 1 [Source:...
6948
6948
TCN2
transcobalamin 2 [Source:HGNC Symbol;Acc:H...
8029
8029
CUBN
cubilin [Source:HGNC Symbol;Acc:HGNC:2548]
81693
81693
AMN
amnion associated transmembrane protein [S...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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