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Human Gene Set: HP_TYPE_II_LISSENCEPHALY
Standard name
HP_TYPE_II_LISSENCEPHALY
Systematic name
M37022
Brief description
Type II lissencephaly
Full description or abstract
A form of lissencephaly characterized by an uneven cortical surface with a so called 'cobblestone' appearace. There are no distinguishable cortical layers. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0007260
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0007260
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
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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
10329
10329
RXYLT1
ribitol xylosyltransferase 1 [Source:HGNC ...
10381
10381
TUBB3
tubulin beta 3 class III [Source:HGNC Symb...
10585
10585
POMT1
protein O-mannosyltransferase 1 [Source:HG...
11041
11041
B4GAT1
beta-1,4-glucuronyltransferase 1 [Source:H...
148789
148789
B3GALNT2
beta-1,3-N-acetylgalactosaminyltransferase...
160418
160418
TMTC3
transmembrane O-mannosyltransferase target...
2218
2218
FKTN
fukutin [Source:HGNC Symbol;Acc:HGNC:3622]
29925
29925
GMPPB
GDP-mannose pyrophosphorylase B [Source:HG...
29954
29954
POMT2
protein O-mannosyltransferase 2 [Source:HG...
3912
3912
LAMB1
laminin subunit beta 1 [Source:HGNC Symbol...
55624
55624
POMGNT1
protein O-linked mannose N-acetylglucosami...
729920
729920
CRPPA
CDP-L-ribitol pyrophosphorylase A [Source:...
79147
79147
FKRP
fukutin related protein [Source:HGNC Symbo...
84197
84197
POMK
protein O-mannose kinase [Source:HGNC Symb...
84892
84892
POMGNT2
protein O-linked mannose N-acetylglucosami...
9215
9215
LARGE1
LARGE xylosyl- and glucuronyltransferase 1...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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