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Human Gene Set: HP_APLASIA_HYPOPLASIA_OF_THE_5TH_METACARPAL
Standard name
HP_APLASIA_HYPOPLASIA_OF_THE_5TH_METACARPAL
Systematic name
M37490
Brief description
Aplasia/Hypoplasia of the 5th metacarpal
Full description or abstract
Aplasia or Hypoplasia affecting the 5th metacarpal. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0010045
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0010045
Filtered by similarity
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1 similar ontology term(s) from the external resource)
External ID
External Name
HP:0010047
Short 5th metacarpal
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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xml
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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 15 genes
Gene families
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these 15 genes by gene family
Show members
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show
15 source identifiers mapped to 15 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
10847
10847
SRCAP
Snf2 related CREBBP activator protein [Sour...
1302
1302
COL11A2
collagen type XI alpha 2 chain [Source:HGNC...
2316
2316
FLNA
filamin A [Source:HGNC Symbol;Acc:HGNC:3754]
2778
2778
GNAS
GNAS complex locus [Source:HGNC Symbol;Acc:...
3239
3239
HOXD13
homeobox D13 [Source:HGNC Symbol;Acc:HGNC:5...
374969
374969
SVBP
small vasohibin binding protein [Source:HGN...
3930
3930
LBR
lamin B receptor [Source:HGNC Symbol;Acc:HG...
55612
55612
FERMT1
FERM domain containing kindlin 1 [Source:HG...
5593
5593
PRKG2
protein kinase cGMP-dependent 2 [Source:HGN...
650
650
BMP2
bone morphogenetic protein 2 [Source:HGNC S...
6926
6926
TBX3
T-box transcription factor 3 [Source:HGNC S...
860
860
RUNX2
RUNX family transcription factor 2 [Source:...
8823
8823
FGF16
fibroblast growth factor 16 [Source:HGNC Sy...
90459
90459
ERI1
exoribonuclease 1 [Source:HGNC Symbol;Acc:H...
9241
9241
NOG
noggin [Source:HGNC Symbol;Acc:HGNC:7866]
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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