login
register
GSEA Home
Downloads
Molecular Signatures Database
Documentation
Contact
Team
MSigDB Home
Human Collections
About
Browse
Search
Investigate
Gene Families
Mouse Collections
About
Browse
Search
Investigate
Help
Human Gene Set: HP_DECREASED_CIRCULATING_VITAMIN_B12_CONCENTRATION
Standard name
HP_DECREASED_CIRCULATING_VITAMIN_B12_CONCENTRATION
Systematic name
M41620
Brief description
Decreased circulating vitamin B12 concentration
Full description or abstract
The concentration of vitamin B12 in the blood circulation is below the lower limit of normal. []
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0100502
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0100502
Filtered by similarity
?
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
|
gmt
|
xml
|
json
|
TSV metadata
Compute overlaps
?
(
show
collections to investigate for overlap with this gene set)
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
?
NG-CHM interactive heatmaps
(
Please note that clustering takes a few seconds
)
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 10 genes
Gene families
?
Categorize
these 10 genes by gene family
Show members
(
show
10 source identifiers mapped to 10 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
215
215
ABCD1
ATP binding cassette subfamily D member 1 [S...
2694
2694
CBLIF
cobalamin binding intrinsic factor [Source:H...
2917
2917
GRM7
glutamate metabotropic receptor 7 [Source:HG...
2984
2984
GUCY2C
guanylate cyclase 2C [Source:HGNC Symbol;Acc...
3117
3117
HLA-DQA1
major histocompatibility complex, class II, ...
3119
3119
HLA-DQB1
major histocompatibility complex, class II, ...
55788
55788
LMBRD1
LMBR1 domain containing 1 [Source:HGNC Symbo...
6573
6573
SLC19A1
solute carrier family 19 member 1 [Source:HG...
8029
8029
CUBN
cubilin [Source:HGNC Symbol;Acc:HGNC:2548]
81693
81693
AMN
amnion associated transmembrane protein [Sou...
Version history
2024.1.Hs: Renamed from HP_VITAMIN_B12_DEFICIENCY. Updated to HPO Release 2024-04-26.
See
MSigDB license terms here
. Please note that certain gene sets have special access terms.