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Human Gene Set: HP_PROFOUND_HEARING_IMPAIRMENT
Standard name
HP_PROFOUND_HEARING_IMPAIRMENT
Systematic name
M38167
Brief description
Profound hearing impairment
Full description or abstract
A profound (essentially complete) form of hearing impairment. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0012715
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0012715
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
Compute overlaps
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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 13 genes
Gene families
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Categorize
these 13 genes by gene family
Show members
(
show
13 source identifiers mapped to 13 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
10518
10518
CIB2
calcium and integrin binding family member 2 ...
2059
2059
EPS8
epidermal growth factor receptor pathway subs...
2248
2248
FGF3
fibroblast growth factor 3 [Source:HGNC Symbo...
3735
3735
KARS1
lysyl-tRNA synthetase 1 [Source:HGNC Symbol;A...
3753
3753
KCNE1
potassium voltage-gated channel subfamily E r...
3784
3784
KCNQ1
potassium voltage-gated channel subfamily Q m...
4762
4762
NEUROG1
neurogenin 1 [Source:HGNC Symbol;Acc:HGNC:7764]
51168
51168
MYO15A
myosin XVA [Source:HGNC Symbol;Acc:HGNC:7594]
5376
5376
PMP22
peripheral myelin protein 22 [Source:HGNC Sym...
5631
5631
PRPS1
phosphoribosyl pyrophosphate synthetase 1 [So...
5962
5962
RDX
radixin [Source:HGNC Symbol;Acc:HGNC:9944]
6558
6558
SLC12A2
solute carrier family 12 member 2 [Source:HGN...
8565
8565
YARS1
tyrosyl-tRNA synthetase 1 [Source:HGNC Symbol...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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