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Human Gene Set: HP_ABNORMALITY_OF_THE_PROXIMAL_PHALANX_OF_THE_THUMB
Standard name
HP_ABNORMALITY_OF_THE_PROXIMAL_PHALANX_OF_THE_THUMB
Systematic name
M37392
Brief description
Abnormality of the proximal phalanx of the thumb
Full description or abstract
An anomaly of the shape or form of the proximal phalanx of the thumb. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0009618
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0009618
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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xml
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json
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TSV metadata
Compute overlaps
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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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NG-CHM interactive heatmaps
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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 9 genes
Gene families
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these 9 genes by gene family
Show members
(
show
9 source identifiers mapped to 9 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
10084
10084
PQBP1
polyglutamine binding protein 1 [Source:HGNC S...
2263
2263
FGFR2
fibroblast growth factor receptor 2 [Source:HG...
22856
22856
CHSY1
chondroitin sulfate synthase 1 [Source:HGNC Sy...
3549
3549
IHH
Indian hedgehog signaling molecule [Source:HGN...
4841
4841
NONO
non-POU domain containing octamer binding [Sou...
51715
51715
RAB23
RAB23, member RAS oncogene family [Source:HGNC...
658
658
BMPR1B
bone morphogenetic protein receptor type 1B [S...
90459
90459
ERI1
exoribonuclease 1 [Source:HGNC Symbol;Acc:HGNC...
9898
9898
UBAP2L
ubiquitin associated protein 2 like [Source:HG...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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