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_IMPAIRED_OROPHARYNGEAL_SWALLOW_RESPONSE
Standard name
HP_IMPAIRED_OROPHARYNGEAL_SWALLOW_RESPONSE
Systematic name
M38446
Brief description
Impaired oropharyngeal swallow response
Full description or abstract
Delay or absence of the swallow response, reflexes triggered by the contact the food bolus makes with the anterior faucial pillars. [PMID:27785002]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0031162
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0031162
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 14 genes
Gene families
?
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
100996717
100996717
NOTCH2NLC
notch 2 N-terminal like C [Source:H...
10755
10755
GIPC1
GIPC PDZ domain containing family m...
116461
116461
TSEN15
tRNA splicing endonuclease subunit ...
283989
283989
TSEN54
tRNA splicing endonuclease subunit ...
29967
29967
LRP12
LDL receptor related protein 12 [So...
353116
353116
RILPL1
Rab interacting lysosomal protein l...
51091
51091
SEPSECS
Sep (O-phosphoserine) tRNA:Sec (sel...
5376
5376
PMP22
peripheral myelin protein 22 [Sourc...
55768
55768
NGLY1
N-glycanase 1 [Source:HGNC Symbol;A...
673
673
BRAF
B-Raf proto-oncogene, serine/threon...
6872
6872
TAF1
TATA-box binding protein associated...
79042
79042
TSEN34
tRNA splicing endonuclease subunit ...
80746
80746
TSEN2
tRNA splicing endonuclease subunit ...
9373
9373
PLAA
phospholipase A2 activating protein...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
See
MSigDB license terms here
. Please note that certain gene sets have special access terms.