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Human Gene Set: HP_ATLANTOAXIAL_ABNORMALITY
Standard name
HP_ATLANTOAXIAL_ABNORMALITY
Systematic name
M36293
Brief description
Atlantoaxial abnormality
Full description or abstract
An anomaly of the atlantoaxial joint, i.e., of the joint between the first (atlas) and second (axis) cervical vertebrae. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0003413
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0003413
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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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 14 genes
Gene families
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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
11128
11128
POLR3A
RNA polymerase III subunit A [Source:HGNC S...
113189
113189
CHST14
carbohydrate sulfotransferase 14 [Source:HG...
126792
126792
B3GALT6
beta-1,3-galactosyltransferase 6 [Source:HG...
1280
1280
COL2A1
collagen type II alpha 1 chain [Source:HGNC...
1311
1311
COMP
cartilage oligomeric matrix protein [Source...
29940
29940
DSE
dermatan sulfate epimerase [Source:HGNC Sym...
415
415
ARSL
arylsulfatase L [Source:HGNC Symbol;Acc:HGN...
4784
4784
NFIX
nuclear factor I X [Source:HGNC Symbol;Acc:...
4921
4921
DDR2
discoidin domain receptor tyrosine kinase 2...
54808
54808
DYM
dymeclin [Source:HGNC Symbol;Acc:HGNC:21317]
55033
55033
FKBP14
FKBP prolyl isomerase 14 [Source:HGNC Symbo...
59341
59341
TRPV4
transient receptor potential cation channel...
6023
6023
RMRP
RNA component of mitochondrial RNA processi...
79158
79158
GNPTAB
N-acetylglucosamine-1-phosphate transferase...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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