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Human Gene Set: HP_ABSENT_BRAINSTEM_AUDITORY_RESPONSES
Standard name
HP_ABSENT_BRAINSTEM_AUDITORY_RESPONSES
Systematic name
M41299
Brief description
Absent brainstem auditory responses
Full description or abstract
Lack of measurable response to stimulation of auditory evoked potentials. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0004463
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0004463
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
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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
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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 12 genes
Gene families
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Categorize
these 12 genes by gene family
Show members
(
show
12 source identifiers mapped to 12 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
1161
1161
ERCC8
ERCC excision repair 8, CSA ubiquitin ligase c...
1678
1678
TIMM8A
translocase of inner mitochondrial membrane 8A...
2072
2072
ERCC4
ERCC excision repair 4, endonuclease catalytic...
2074
2074
ERCC6
ERCC excision repair 6, chromatin remodeling f...
3735
3735
KARS1
lysyl-tRNA synthetase 1 [Source:HGNC Symbol;Ac...
4747
4747
NEFL
neurofilament light chain [Source:HGNC Symbol;...
4976
4976
OPA1
OPA1 mitochondrial dynamin like GTPase [Source...
57731
57731
SPTBN4
spectrin beta, non-erythrocytic 4 [Source:HGNC...
6663
6663
SOX10
SRY-box transcription factor 10 [Source:HGNC S...
7841
7841
MOGS
mannosyl-oligosaccharide glucosidase [Source:H...
9381
9381
OTOF
otoferlin [Source:HGNC Symbol;Acc:HGNC:8515]
9750
9750
RIPOR2
RHO family interacting cell polarization regul...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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