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Human Gene Set: HP_DUPLICATION_OF_PHALANX_OF_TOE
Standard name
HP_DUPLICATION_OF_PHALANX_OF_TOE
Systematic name
M48783
Brief description
Duplication of phalanx of toe
Full description or abstract
Partial/complete duplication of one or more phalanx of toe. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0010181
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0010181
Filtered by similarity
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1 similar ontology term(s) from the external resource)
External ID
External Name
HP:0010066
Duplication of phalanx of hallux
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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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 12 genes
Gene families
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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
124583
124583
CANT1
calcium activated nucleotidase 1 [Source:H...
1387
1387
CREBBP
CREB binding protein [Source:HGNC Symbol;A...
2033
2033
EP300
E1A binding protein p300 [Source:HGNC Symb...
219844
219844
HYLS1
HYLS1 centriolar and ciliogenesis associat...
26005
26005
C2CD3
C2 domain containing 3 centriole elongatio...
374654
374654
KIF7
kinesin family member 7 [Source:HGNC Symbo...
4750
4750
NEK1
NIMA related kinase 1 [Source:HGNC Symbol;...
51715
51715
RAB23
RAB23, member RAS oncogene family [Source:...
60
60
ACTB
actin beta [Source:HGNC Symbol;Acc:HGNC:132]
6910
6910
TBX5
T-box transcription factor 5 [Source:HGNC ...
7291
7291
TWIST1
twist family bHLH transcription factor 1 [...
9851
9851
KIAA0753
KIAA0753 [Source:HGNC Symbol;Acc:HGNC:29110]
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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