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Human Gene Set: HP_SEVERE_EXPRESSIVE_LANGUAGE_DELAY
Standard name
HP_SEVERE_EXPRESSIVE_LANGUAGE_DELAY
Systematic name
M36938
Brief description
Severe expressive language delay
Full description or abstract
A severe delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts. [https://orcid.org/0000-0002-6410-0882]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0006863
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0006863
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 12 genes
Gene families
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Categorize
these 12 genes by gene family
Show members
(
show
12 source identifiers mapped to 12 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
166378
166378
AFG2A
AFG2 AAA ATPase homolog A [Source:HGNC Symbo...
171023
171023
ASXL1
ASXL transcriptional regulator 1 [Source:HGN...
1806
1806
DPYD
dihydropyrimidine dehydrogenase [Source:HGNC...
23126
23126
POGZ
pogo transposable element derived with ZNF d...
25970
25970
SH2B1
SH2B adaptor protein 1 [Source:HGNC Symbol;A...
2892
2892
GRIA3
glutamate ionotropic receptor AMPA type subu...
57492
57492
ARID1B
AT-rich interaction domain 1B [Source:HGNC S...
58508
58508
KMT2C
lysine methyltransferase 2C [Source:HGNC Sym...
6872
6872
TAF1
TATA-box binding protein associated factor 1...
79813
79813
EHMT1
euchromatic histone lysine methyltransferase...
8925
8925
HERC1
HECT and RLD domain containing E3 ubiquitin ...
89970
89970
RSPRY1
ring finger and SPRY domain containing 1 [So...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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