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Human Gene Set: HP_POLAR_CATARACT
Standard name
HP_POLAR_CATARACT
Systematic name
M37626
Brief description
Polar cataract
Full description or abstract
A type of Congenital cataract in which the opacities occupy the subcapsular cortex at the anterior or posterior pole of the lens. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0010696
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0010696
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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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
10682
10682
EBP
EBP cholestenol delta-isomerase [Source:HGNC...
1285
1285
COL4A3
collagen type IV alpha 3 chain [Source:HGNC ...
1410
1410
CRYAB
crystallin alpha B [Source:HGNC Symbol;Acc:H...
1419
1419
CRYGB
crystallin gamma B [Source:HGNC Symbol;Acc:H...
1969
1969
EPHA2
EPH receptor A2 [Source:HGNC Symbol;Acc:HGNC...
26137
26137
ZBTB20
zinc finger and BTB domain containing 20 [So...
324
324
APC
APC regulator of WNT signaling pathway [Sour...
3299
3299
HSF4
heat shock transcription factor 4 [Source:HG...
406960
406960
MIR184
microRNA 184 [Source:HGNC Symbol;Acc:HGNC:31...
5309
5309
PITX3
paired like homeodomain 3 [Source:HGNC Symbo...
57551
57551
TAOK1
TAO kinase 1 [Source:HGNC Symbol;Acc:HGNC:29...
583
583
BBS2
Bardet-Biedl syndrome 2 [Source:HGNC Symbol;...
5830
5830
PEX5
peroxisomal biogenesis factor 5 [Source:HGNC...
7431
7431
VIM
vimentin [Source:HGNC Symbol;Acc:HGNC:12692]
9445
9445
ITM2B
integral membrane protein 2B [Source:HGNC Sy...
9653
9653
HS2ST1
heparan sulfate 2-O-sulfotransferase 1 [Sour...
Version history
2023.1.Hs: Updated to HPO Release 2023-01-27.
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