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_NOCTURNAL_HYPOVENTILATION
Standard name
HP_NOCTURNAL_HYPOVENTILATION
Systematic name
M36058
Brief description
Nocturnal hypoventilation
Full description or abstract
An abnormal reduction in alveolar ventilation occuring during sleep. This is characterized by a rise in arterial carbon dioxide. [PMID:20308760]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0002877
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0002877
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 16 genes
Gene families
?
Categorize
these 16 genes by gene family
Show members
(
show
16 source identifiers mapped to 16 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
10324
10324
KLHL41
kelch like family member 41 [Source:HGNC Sy...
1073
1073
CFL2
cofilin 2 [Source:HGNC Symbol;Acc:HGNC:1875]
11080
11080
DNAJB4
DnaJ heat shock protein family (Hsp40) memb...
113278
113278
SLC52A3
solute carrier family 52 member 3 [Source:H...
1291
1291
COL6A1
collagen type VI alpha 1 chain [Source:HGNC...
1303
1303
COL12A1
collagen type XII alpha 1 chain [Source:HGN...
3190
3190
HNRNPK
heterogeneous nuclear ribonucleoprotein K [...
4625
4625
MYH7
myosin heavy chain 7 [Source:HGNC Symbol;Ac...
4703
4703
NEB
nebulin [Source:HGNC Symbol;Acc:HGNC:7720]
56203
56203
LMOD3
leiomodin 3 [Source:HGNC Symbol;Acc:HGNC:6649]
57190
57190
SELENON
selenoprotein N [Source:HGNC Symbol;Acc:HGN...
58
58
ACTA1
actin alpha 1, skeletal muscle [Source:HGNC...
7169
7169
TPM2
tropomyosin 2 [Source:HGNC Symbol;Acc:HGNC:...
7273
7273
TTN
titin [Source:HGNC Symbol;Acc:HGNC:12403]
79147
79147
FKRP
fukutin related protein [Source:HGNC Symbol...
8929
8929
PHOX2B
paired like homeobox 2B [Source:HGNC Symbol...
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.