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_APLASIA_HYPOPLASIA_OF_THE_INNER_EAR
Standard name
HP_APLASIA_HYPOPLASIA_OF_THE_INNER_EAR
Systematic name
M37287
Brief description
Aplasia/Hypoplasia of the inner ear
Full description or abstract
Aplasia or developmental hypoplasia of the inner ear. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0008774
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0008774
Filtered by similarity
?
(
show
1 similar ontology term(s) from the external resource)
External ID
External Name
HP:0011395
Aplasia/Hypoplasia of the cochlea
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 11 genes
Gene families
?
Categorize
these 11 genes by gene family
Show members
(
show
11 source identifiers mapped to 11 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
147912
147912
SIX5
SIX homeobox 5 [Source:HGNC Symbol;Acc:HGNC...
1663
1663
DDX11
DEAD/H-box helicase 11 [Source:HGNC Symbol;...
2138
2138
EYA1
EYA transcriptional coactivator and phospha...
2248
2248
FGF3
fibroblast growth factor 3 [Source:HGNC Sym...
2299
2299
FOXI1
forkhead box I1 [Source:HGNC Symbol;Acc:HGN...
3766
3766
KCNJ10
potassium inwardly rectifying channel subfa...
4762
4762
NEUROG1
neurogenin 1 [Source:HGNC Symbol;Acc:HGNC:7...
5172
5172
SLC26A4
solute carrier family 26 member 4 [Source:H...
6495
6495
SIX1
SIX homeobox 1 [Source:HGNC Symbol;Acc:HGNC...
80000
80000
GREB1L
GREB1 like retinoic acid receptor coactivat...
93986
93986
FOXP2
forkhead box P2 [Source:HGNC Symbol;Acc:HGN...
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.