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Human Gene Set: HP_CRANIOFACIAL_OSTEOSCLEROSIS
Standard name
HP_CRANIOFACIAL_OSTEOSCLEROSIS
Systematic name
M36716
Brief description
Craniofacial osteosclerosis
Full description or abstract
Abnormally increased density of craniofacial bone tissue. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0005464
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0005464
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 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
10312
10312
TCIRG1
T cell immune regulator 1, ATPase H+ trans...
1186
1186
CLCN7
chloride voltage-gated channel 7 [Source:H...
139285
139285
AMER1
APC membrane recruitment protein 1 [Source...
1436
1436
CSF1R
colony stimulating factor 1 receptor [Sour...
1855
1855
DVL1
dishevelled segment polarity protein 1 [So...
23516
23516
SLC39A14
solute carrier family 39 member 14 [Source...
4041
4041
LRP5
LDL receptor related protein 5 [Source:HGN...
50964
50964
SOST
sclerostin [Source:HGNC Symbol;Acc:HGNC:13...
56172
56172
ANKH
ANKH inorganic pyrophosphate transport reg...
63901
63901
FAM111A
FAM111 trypsin like peptidase A [Source:HG...
6905
6905
TBCE
tubulin folding cofactor E [Source:HGNC Sy...
7040
7040
TGFB1
transforming growth factor beta 1 [Source:...
8905
8905
AP1S2
adaptor related protein complex 1 subunit ...
9365
9365
KL
klotho [Source:HGNC Symbol;Acc:HGNC:6344]
9842
9842
PLEKHM1
pleckstrin homology and RUN domain contain...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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