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Human Gene Set: HP_ABSENT_PATELLAR_REFLEXES
Standard name
HP_ABSENT_PATELLAR_REFLEXES
Systematic name
M46120
Brief description
Absent patellar reflexes
Full description or abstract
Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0006844
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0006844
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
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grp
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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
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
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these 14 genes by gene family
Show members
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14 source identifiers mapped to 14 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
10516
10516
FBLN5
fibulin 5 [Source:HGNC Symbol;Acc:HGNC:3602]
10613
10613
ERLIN1
ER lipid raft associated 1 [Source:HGNC Symbol...
3572
3572
IL6ST
interleukin 6 cytokine family signal transduce...
3977
3977
LIFR
LIF receptor subunit alpha [Source:HGNC Symbol...
5375
5375
PMP2
peripheral myelin protein 2 [Source:HGNC Symbo...
55958
55958
KLHL9
kelch like family member 9 [Source:HGNC Symbol...
5700
5700
PSMC1
proteasome 26S subunit, ATPase 1 [Source:HGNC ...
59345
59345
GNB4
G protein subunit beta 4 [Source:HGNC Symbol;A...
6606
6606
SMN1
survival of motor neuron 1, telomeric [Source:...
6607
6607
SMN2
survival of motor neuron 2, centromeric [Sourc...
7453
7453
WARS1
tryptophanyl-tRNA synthetase 1 [Source:HGNC Sy...
79784
79784
MYH14
myosin heavy chain 14 [Source:HGNC Symbol;Acc:...
8988
8988
HSPB3
heat shock protein family B (small) member 3 [...
9927
9927
MFN2
mitofusin 2 [Source:HGNC Symbol;Acc:HGNC:16877]
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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