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Human Gene Set: HP_ABNORMAL_BRAINSTEM_WHITE_MATTER_MORPHOLOGY
Standard name
HP_ABNORMAL_BRAINSTEM_WHITE_MATTER_MORPHOLOGY
Systematic name
M41455
Brief description
Abnormal brainstem white matter morphology
Full description or abstract
An anomaly of the white matter of brainstem. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0012501
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0012501
Filtered by similarity
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1 similar ontology term(s) from the external resource)
External ID
External Name
HP:0011931
Abnormal cerebellar peduncle morphology
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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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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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
(
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16 source identifiers mapped to 16 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
1182
1182
CLCN3
chloride voltage-gated channel 3 [Source:H...
1593
1593
CYP27A1
cytochrome P450 family 27 subfamily A memb...
215
215
ABCD1
ATP binding cassette subfamily D member 1 ...
2313
2313
FLI1
Fli-1 proto-oncogene, ETS transcription fa...
26278
26278
SACS
sacsin molecular chaperone [Source:HGNC Sy...
284217
284217
LAMA1
laminin subunit alpha 1 [Source:HGNC Symbo...
4001
4001
LMNB1
lamin B1 [Source:HGNC Symbol;Acc:HGNC:6637]
403
403
ARL3
ADP ribosylation factor like GTPase 3 [Sou...
4867
4867
NPHP1
nephrocystin 1 [Source:HGNC Symbol;Acc:HGN...
51259
51259
TMEM216
transmembrane protein 216 [Source:HGNC Sym...
54806
54806
AHI1
Abelson helper integration site 1 [Source:...
56623
56623
INPP5E
inositol polyphosphate-5-phosphatase E [So...
79848
79848
CSPP1
centrosome and spindle pole associated pro...
80184
80184
CEP290
centrosomal protein 290 [Source:HGNC Symbo...
91147
91147
TMEM67
transmembrane protein 67 [Source:HGNC Symb...
9786
9786
KIAA0586
KIAA0586 [Source:HGNC Symbol;Acc:HGNC:19960]
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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