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Human Gene Set: HP_INFERIOR_CEREBELLAR_VERMIS_HYPOPLASIA
Standard name
HP_INFERIOR_CEREBELLAR_VERMIS_HYPOPLASIA
Systematic name
M36987
Brief description
Inferior cerebellar vermis hypoplasia
Full description or abstract
Underdevelopment of the inferior portion of the vermis of cerebellum. [https://orcid.org/0000-0002-0736-9199, PMID:16580298]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0007068
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0007068
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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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
26173
26173
INTS1
integrator complex subunit 1 [Source:HGNC ...
284217
284217
LAMA1
laminin subunit alpha 1 [Source:HGNC Symbo...
2911
2911
GRM1
glutamate metabotropic receptor 1 [Source:...
2972
2972
BRF1
BRF1 RNA polymerase III transcription init...
3897
3897
L1CAM
L1 cell adhesion molecule [Source:HGNC Sym...
400569
400569
MED11
mediator complex subunit 11 [Source:HGNC S...
4190
4190
MDH1
malate dehydrogenase 1 [Source:HGNC Symbol...
50628
50628
GEMIN4
gem nuclear organelle associated protein 4...
63895
63895
PIEZO2
piezo type mechanosensitive ion channel co...
652
652
BMP4
bone morphogenetic protein 4 [Source:HGNC ...
7436
7436
VLDLR
very low density lipoprotein receptor [Sou...
80816
80816
ASXL3
ASXL transcriptional regulator 3 [Source:H...
83696
83696
TRAPPC9
trafficking protein particle complex subun...
9851
9851
KIAA0753
KIAA0753 [Source:HGNC Symbol;Acc:HGNC:29110]
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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