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Human Gene Set: HP_PULVERULENT_CATARACT
Standard name
HP_PULVERULENT_CATARACT
Systematic name
M37625
Brief description
Pulverulent cataract
Full description or abstract
A kind of congenital cataract that is characterized by a hollow sphere of punctate opacities involving the fetal nucleus and that usually occurs bilaterally. [HPO_CONTRIBUTOR:vkumar, https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0010693
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0010693
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
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grp
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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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Categorize
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
1414
1414
CRYBB1
crystallin beta B1 [Source:HGNC Symbol;Acc:HGNC:...
1415
1415
CRYBB2
crystallin beta B2 [Source:HGNC Symbol;Acc:HGNC:...
1420
1420
CRYGC
crystallin gamma C [Source:HGNC Symbol;Acc:HGNC:...
2512
2512
FTL
ferritin light chain [Source:HGNC Symbol;Acc:HGN...
2702
2702
GJA5
gap junction protein alpha 5 [Source:HGNC Symbol...
2703
2703
GJA8
gap junction protein alpha 8 [Source:HGNC Symbol...
3299
3299
HSF4
heat shock transcription factor 4 [Source:HGNC S...
3982
3982
LIM2
lens intrinsic membrane protein 2 [Source:HGNC S...
4094
4094
MAF
MAF bZIP transcription factor [Source:HGNC Symbo...
7431
7431
VIM
vimentin [Source:HGNC Symbol;Acc:HGNC:12692]
7439
7439
BEST1
bestrophin 1 [Source:HGNC Symbol;Acc:HGNC:12703]
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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