login
register
GSEA Home
Downloads
Molecular Signatures Database
Documentation
Contact
Team
MSigDB Home
Human Collections
About
Browse
Search
Investigate
Gene Families
Mouse Collections
About
Browse
Search
Investigate
Help
Human Gene Set: HP_AUTOAMPUTATION_OF_DIGITS
Standard name
HP_AUTOAMPUTATION_OF_DIGITS
Systematic name
M47123
Brief description
Autoamputation of digits
Full description or abstract
The spontaneous detachment of a digit (finger or toe) from the body due to long standing pathology. []
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0007460
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0007460
Filtered by similarity
?
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
|
gmt
|
xml
|
json
|
TSV metadata
Compute overlaps
?
(
show
collections to investigate for overlap with this gene set)
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
?
NG-CHM interactive heatmaps
(
Please note that clustering takes a few seconds
)
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
?
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
11277
11277
TREX1
three prime repair exonuclease 1 [Source:HG...
162514
162514
TRPV3
transient receptor potential cation channel...
26276
26276
VPS33B
VPS33B late endosome and lysosome associate...
2706
2706
GJB2
gap junction protein beta 2 [Source:HGNC Sy...
3848
3848
KRT1
keratin 1 [Source:HGNC Symbol;Acc:HGNC:6412]
4358
4358
MPV17
mitochondrial inner membrane protein MPV17 ...
4914
4914
NTRK1
neurotrophic receptor tyrosine kinase 1 [So...
51062
51062
ATL1
atlastin GTPase 1 [Source:HGNC Symbol;Acc:H...
54463
54463
RETREG1
reticulophagy regulator 1 [Source:HGNC Symb...
547
547
KIF1A
kinesin family member 1A [Source:HGNC Symbo...
6335
6335
SCN9A
sodium voltage-gated channel alpha subunit ...
65125
65125
WNK1
WNK lysine deficient protein kinase 1 [Sour...
7051
7051
TGM1
transglutaminase 1 [Source:HGNC Symbol;Acc:...
9517
9517
SPTLC2
serine palmitoyltransferase long chain base...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
See
MSigDB license terms here
. Please note that certain gene sets have special access terms.