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Human Gene Set: HP_PUNCTATE_CATARACT
Standard name
HP_PUNCTATE_CATARACT
Systematic name
M37105
Brief description
Punctate cataract
Full description or abstract
A type of cataract with punctate opacities of the lens. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0007648
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0007648
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 14 genes
Gene families
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Categorize
these 14 genes by gene family
Show members
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show
14 source identifiers mapped to 14 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
10484
10484
SEC23A
SEC23 homolog A, COPII coat complex component...
1414
1414
CRYBB1
crystallin beta B1 [Source:HGNC Symbol;Acc:HG...
1415
1415
CRYBB2
crystallin beta B2 [Source:HGNC Symbol;Acc:HG...
1420
1420
CRYGC
crystallin gamma C [Source:HGNC Symbol;Acc:HG...
2512
2512
FTL
ferritin light chain [Source:HGNC Symbol;Acc:...
2702
2702
GJA5
gap junction protein alpha 5 [Source:HGNC Sym...
2703
2703
GJA8
gap junction protein alpha 8 [Source:HGNC Sym...
3299
3299
HSF4
heat shock transcription factor 4 [Source:HGN...
3982
3982
LIM2
lens intrinsic membrane protein 2 [Source:HGN...
4094
4094
MAF
MAF bZIP transcription factor [Source:HGNC Sy...
7431
7431
VIM
vimentin [Source:HGNC Symbol;Acc:HGNC:12692]
7439
7439
BEST1
bestrophin 1 [Source:HGNC Symbol;Acc:HGNC:12703]
80207
80207
OPA3
outer mitochondrial membrane lipid metabolism...
84816
84816
RTN4IP1
reticulon 4 interacting protein 1 [Source:HGN...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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