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Human Gene Set: HP_TENDON_XANTHOMATOSIS
Standard name
HP_TENDON_XANTHOMATOSIS
Systematic name
M37679
Brief description
Tendon xanthomatosis
Full description or abstract
The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows). [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0010874
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0010874
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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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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Categorize
these 15 genes by gene family
Show members
(
show
15 source identifiers mapped to 15 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
1071
1071
CETP
cholesteryl ester transfer protein [Source:...
10842
10842
PPP1R17
protein phosphatase 1 regulatory subunit 17...
1593
1593
CYP27A1
cytochrome P450 family 27 subfamily A membe...
2053
2053
EPHX2
epoxide hydrolase 2 [Source:HGNC Symbol;Acc...
255738
255738
PCSK9
proprotein convertase subtilisin/kexin type...
26119
26119
LDLRAP1
low density lipoprotein receptor adaptor pr...
2690
2690
GHR
growth hormone receptor [Source:HGNC Symbol...
335
335
APOA1
apolipoprotein A1 [Source:HGNC Symbol;Acc:H...
336
336
APOA2
apolipoprotein A2 [Source:HGNC Symbol;Acc:H...
338
338
APOB
apolipoprotein B [Source:HGNC Symbol;Acc:HG...
348
348
APOE
apolipoprotein E [Source:HGNC Symbol;Acc:HG...
3949
3949
LDLR
low density lipoprotein receptor [Source:HG...
64240
64240
ABCG5
ATP binding cassette subfamily G member 5 [...
64241
64241
ABCG8
ATP binding cassette subfamily G member 8 [...
7274
7274
TTPA
alpha tocopherol transfer protein [Source:H...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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