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Human Gene Set: HP_SEMILOBAR_HOLOPROSENCEPHALY
Standard name
HP_SEMILOBAR_HOLOPROSENCEPHALY
Systematic name
M41260
Brief description
Semilobar holoprosencephaly
Full description or abstract
A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly. [HPO_CONTRIBUTOR:GC_HPE]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0002507
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0002507
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 9 genes
Gene families
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Categorize
these 9 genes by gene family
Show members
(
show
9 source identifiers mapped to 9 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
10735
10735
STAG2
STAG2 cohesin complex component [Source:HGNC S...
2260
2260
FGFR1
fibroblast growth factor receptor 1 [Source:HG...
22872
22872
SEC31A
SEC31 homolog A, COPII coat complex component ...
23019
23019
CNOT1
CCR4-NOT transcription complex subunit 1 [Sour...
5727
5727
PTCH1
patched 1 [Source:HGNC Symbol;Acc:HGNC:9585]
6496
6496
SIX3
SIX homeobox 3 [Source:HGNC Symbol;Acc:HGNC:10...
7050
7050
TGIF1
TGFB induced factor homeobox 1 [Source:HGNC Sy...
7546
7546
ZIC2
Zic family member 2 [Source:HGNC Symbol;Acc:HG...
8243
8243
SMC1A
structural maintenance of chromosomes 1A [Sour...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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