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Human Gene Set: HP_OCCIPITAL_MENINGOCELE
Standard name
HP_OCCIPITAL_MENINGOCELE
Systematic name
M35832
Brief description
Occipital meningocele
Full description or abstract
A herniation of meninges through a congenital bone defect in the skull in the occipital region. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0002436
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0002436
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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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 16 genes
Gene families
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Categorize
these 16 genes by gene family
Show members
(
show
16 source identifiers mapped to 16 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
1312
1312
COMT
catechol-O-methyltransferase [Source:HGNC ...
221037
221037
JMJD1C
jumonji domain containing 1C [Source:HGNC ...
2812
2812
GP1BB
glycoprotein Ib platelet subunit beta [Sou...
421
421
ARVCF
ARVCF delta catenin family member [Source:...
56623
56623
INPP5E
inositol polyphosphate-5-phosphatase E [So...
5727
5727
PTCH1
patched 1 [Source:HGNC Symbol;Acc:HGNC:9585]
6239
6239
RREB1
ras responsive element binding protein 1 [...
65250
65250
CPLANE1
ciliogenesis and planar polarity effector ...
6608
6608
SMO
smoothened, frizzled class receptor [Sourc...
6899
6899
TBX1
T-box transcription factor 1 [Source:HGNC ...
7290
7290
HIRA
histone cell cycle regulator [Source:HGNC ...
7353
7353
UFD1
ubiquitin recognition factor in ER associa...
7476
7476
WNT7A
Wnt family member 7A [Source:HGNC Symbol;A...
80781
80781
COL18A1
collagen type XVIII alpha 1 chain [Source:...
9632
9632
SEC24C
SEC24 homolog C, COPII coat complex compon...
9786
9786
KIAA0586
KIAA0586 [Source:HGNC Symbol;Acc:HGNC:19960]
Version history
2023.1.Hs: Updated to HPO Release 2023-01-27.
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