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Human Gene Set: HP_ABNORMALITY_OF_CARTILAGE_OF_EXTERNAL_EAR
Standard name
HP_ABNORMALITY_OF_CARTILAGE_OF_EXTERNAL_EAR
Systematic name
M38966
Brief description
Abnormality of cartilage of external ear
Full description or abstract
An abnormality of a cartilage of external ear. []
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:3000022
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:3000022
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
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
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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
1906
1906
EDN1
endothelin 1 [Source:HGNC Symbol;Acc:HGNC:3176]
2261
2261
FGFR3
fibroblast growth factor receptor 3 [Source:HG...
2263
2263
FGFR2
fibroblast growth factor receptor 2 [Source:HG...
22907
22907
DHX30
DExH-box helicase 30 [Source:HGNC Symbol;Acc:H...
26123
26123
TCTN3
tectonic family member 3 [Source:HGNC Symbol;A...
26137
26137
ZBTB20
zinc finger and BTB domain containing 20 [Sour...
2773
2773
GNAI3
G protein subunit alpha i3 [Source:HGNC Symbol...
368
368
ABCC6
ATP binding cassette subfamily C member 6 [Sou...
4256
4256
MGP
matrix Gla protein [Source:HGNC Symbol;Acc:HGN...
5167
5167
ENPP1
ectonucleotide pyrophosphatase/phosphodiestera...
5332
5332
PLCB4
phospholipase C beta 4 [Source:HGNC Symbol;Acc...
58499
58499
ZNF462
zinc finger protein 462 [Source:HGNC Symbol;Ac...
63932
63932
STEEP1
STING1 ER exit protein 1 [Source:HGNC Symbol;A...
7291
7291
TWIST1
twist family bHLH transcription factor 1 [Sour...
7468
7468
NSD2
nuclear receptor binding SET domain protein 2 ...
9653
9653
HS2ST1
heparan sulfate 2-O-sulfotransferase 1 [Source...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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