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Human Gene Set: HP_SCLERODERMA
Standard name
HP_SCLERODERMA
Systematic name
M38698
Brief description
Scleroderma
Full description or abstract
A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin. [https://orcid.org/0009-0006-4530-3154]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0100324
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0100324
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
Compute overlaps
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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 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
1188
1188
CLCNKB
chloride voltage-gated channel Kb [Source:HGN...
1410
1410
CRYAB
crystallin alpha B [Source:HGNC Symbol;Acc:HG...
23592
23592
LEMD3
LEM domain containing 3 [Source:HGNC Symbol;A...
3501
3501
IGHG2
immunoglobulin heavy constant gamma 2 (G2m ma...
3514
3514
IGKC
immunoglobulin kappa constant [Source:HGNC Sy...
3930
3930
LBR
lamin B receptor [Source:HGNC Symbol;Acc:HGNC...
4000
4000
LMNA
lamin A/C [Source:HGNC Symbol;Acc:HGNC:6636]
5053
5053
PAH
phenylalanine hydroxylase [Source:HGNC Symbol...
55315
55315
SLC29A3
solute carrier family 29 member 3 [Source:HGN...
6559
6559
SLC12A3
solute carrier family 12 member 3 [Source:HGN...
7389
7389
UROD
uroporphyrinogen decarboxylase [Source:HGNC S...
7390
7390
UROS
uroporphyrinogen III synthase [Source:HGNC Sy...
7486
7486
WRN
WRN RecQ like helicase [Source:HGNC Symbol;Ac...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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