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Human Gene Set: HP_CORTICAL_CATARACT
Standard name
HP_CORTICAL_CATARACT
Systematic name
M38653
Brief description
Cortical cataract
Full description or abstract
A cataract which affects the layer of the lens surrounding the nucleus, i.e., the lens cortex. It is identified by its unique wedge or spoke appearance. [https://orcid.org/0009-0006-4530-3154]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0100019
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0100019
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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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 11 genes
Gene families
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these 11 genes by gene family
Show members
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show
11 source identifiers mapped to 11 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
1427
1427
CRYGS
crystallin gamma S [Source:HGNC Symbol;Acc:H...
4284
4284
MIP
major intrinsic protein of lens fiber [Sourc...
4771
4771
NF2
NF2, moesin-ezrin-radixin like (MERLIN) tumo...
4952
4952
OCRL
OCRL inositol polyphosphate-5-phosphatase [S...
5062
5062
PAK2
p21 (RAC1) activated kinase 2 [Source:HGNC S...
55229
55229
PANK4
pantothenate kinase 4 (inactive) [Source:HGN...
57670
57670
KIAA1549
KIAA1549 [Source:HGNC Symbol;Acc:HGNC:22219]
631
631
BFSP1
beaded filament structural protein 1 [Source...
79797
79797
ZNF408
zinc finger protein 408 [Source:HGNC Symbol;...
80207
80207
OPA3
outer mitochondrial membrane lipid metabolis...
80781
80781
COL18A1
collagen type XVIII alpha 1 chain [Source:HG...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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