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Human Gene Set: HP_SOFT_DOUGHY_SKIN
Standard name
HP_SOFT_DOUGHY_SKIN
Systematic name
M35084
Brief description
Soft, doughy skin
Full description or abstract
A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough. []
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0001027
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0001027
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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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 13 genes
Gene families
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Categorize
these 13 genes by gene family
Show members
(
show
13 source identifiers mapped to 13 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
10367
10367
MICU1
mitochondrial calcium uptake 1 [Source:HGNC...
126792
126792
B3GALT6
beta-1,3-galactosyltransferase 6 [Source:HG...
1277
1277
COL1A1
collagen type I alpha 1 chain [Source:HGNC ...
1278
1278
COL1A2
collagen type I alpha 2 chain [Source:HGNC ...
1289
1289
COL5A1
collagen type V alpha 1 chain [Source:HGNC ...
1290
1290
COL5A2
collagen type V alpha 2 chain [Source:HGNC ...
3376
3376
IARS1
isoleucyl-tRNA synthetase 1 [Source:HGNC Sy...
3636
3636
INPPL1
inositol polyphosphate phosphatase like 1 [...
4256
4256
MGP
matrix Gla protein [Source:HGNC Symbol;Acc:...
64131
64131
XYLT1
xylosyltransferase 1 [Source:HGNC Symbol;Ac...
6651
6651
SON
SON DNA and RNA binding protein [Source:HGN...
81031
81031
SLC2A10
solute carrier family 2 member 10 [Source:H...
9509
9509
ADAMTS2
ADAM metallopeptidase with thrombospondin t...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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