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Human Gene Set: HP_CONTRACTURE_OF_THE_DISTAL_INTERPHALANGEAL_JOINT_OF_THE_FINGERS
Standard name
HP_CONTRACTURE_OF_THE_DISTAL_INTERPHALANGEAL_JOINT_OF_THE_FINGERS
Systematic name
M46157
Brief description
Contracture of the distal interphalangeal joint of the fingers
Full description or abstract
Chronic loss of joint motion in one or more distal interphalangeal joints of the fingers. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0009697
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0009697
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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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 6 genes
Gene families
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these 6 genes by gene family
Show members
(
show
6 source identifiers mapped to 6 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
25942
25942
SIN3A
SIN3 transcription regulator family member A...
26092
26092
TOR1AIP1
torsin 1A interacting protein 1 [Source:HGNC...
3425
3425
IDUA
alpha-L-iduronidase [Source:HGNC Symbol;Acc:...
4010
4010
LMX1B
LIM homeobox transcription factor 1 beta [So...
4297
4297
KMT2A
lysine methyltransferase 2A [Source:HGNC Sym...
6662
6662
SOX9
SRY-box transcription factor 9 [Source:HGNC ...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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