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Human Gene Set: HP_PILI_TORTI
Standard name
HP_PILI_TORTI
Systematic name
M36411
Brief description
Pili torti
Full description or abstract
Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0003777
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0003777
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
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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 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
1001
1001
CDH3
cadherin 3 [Source:HGNC Symbol;Acc:HGNC:1762]
147409
147409
DSG4
desmoglein 4 [Source:HGNC Symbol;Acc:HGNC:2...
2068
2068
ERCC2
ERCC excision repair 2, TFIIH core complex ...
341208
341208
HEPHL1
hephaestin like 1 [Source:HGNC Symbol;Acc:H...
3891
3891
KRT85
keratin 85 [Source:HGNC Symbol;Acc:HGNC:6462]
4000
4000
LMNA
lamin A/C [Source:HGNC Symbol;Acc:HGNC:6636]
5189
5189
PEX1
peroxisomal biogenesis factor 1 [Source:HGN...
5190
5190
PEX6
peroxisomal biogenesis factor 6 [Source:HGN...
538
538
ATP7A
ATPase copper transporting alpha [Source:HG...
5818
5818
NECTIN1
nectin cell adhesion molecule 1 [Source:HGN...
617
617
BCS1L
BCS1 homolog, ubiquinol-cytochrome c reduct...
6768
6768
ST14
ST14 transmembrane serine protease matripta...
7486
7486
WRN
WRN RecQ like helicase [Source:HGNC Symbol;...
81607
81607
NECTIN4
nectin cell adhesion molecule 4 [Source:HGN...
8626
8626
TP63
tumor protein p63 [Source:HGNC Symbol;Acc:H...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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