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Human Gene Set: HP_PERINEAL_FISTULA
Standard name
HP_PERINEAL_FISTULA
Systematic name
M36595
Brief description
Perineal fistula
Full description or abstract
The presence of a fistula between the bowel and the perineum. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0004871
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0004871
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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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 14 genes
Gene families
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Categorize
these 14 genes by gene family
Show members
(
show
14 source identifiers mapped to 14 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
1024
1024
CDK8
cyclin dependent kinase 8 [Source:HGNC Symbol;...
2000
2000
ELF4
E74 like ETS transcription factor 4 [Source:HG...
26123
26123
TCTN3
tectonic family member 3 [Source:HGNC Symbol;A...
4689
4689
NCF4
neutrophil cytosolic factor 4 [Source:HGNC Sym...
51339
51339
DACT1
dishevelled binding antagonist of beta catenin...
5317
5317
PKP1
plakophilin 1 [Source:HGNC Symbol;Acc:HGNC:9023]
6299
6299
SALL1
spalt like transcription factor 1 [Source:HGNC...
6850
6850
SYK
spleen associated tyrosine kinase [Source:HGNC...
7040
7040
TGFB1
transforming growth factor beta 1 [Source:HGNC...
7403
7403
KDM6A
lysine demethylase 6A [Source:HGNC Symbol;Acc:...
79803
79803
HPS6
HPS6 biogenesis of lysosomal organelles comple...
8085
8085
KMT2D
lysine methyltransferase 2D [Source:HGNC Symbo...
917
917
CD3G
CD3 gamma subunit of T-cell receptor complex [...
9401
9401
RECQL4
RecQ like helicase 4 [Source:HGNC Symbol;Acc:H...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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