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Human Gene Set: HP_IRIS_TRANSILLUMINATION_DEFECT
Standard name
HP_IRIS_TRANSILLUMINATION_DEFECT
Systematic name
M43448
Brief description
Iris transillumination defect
Full description or abstract
Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris. [https://orcid.org/0000-0002-0736-9199, PMID:19920562]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0012805
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0012805
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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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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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 15 genes
Gene families
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these 15 genes by gene family
Show members
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15 source identifiers mapped to 15 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
11152
11152
WDR45
WD repeat domain 45 [Source:HGNC Symbol;Ac...
11234
11234
HPS5
HPS5 biogenesis of lysosomal organelles co...
114902
114902
C1QTNF5
C1q and TNF related 5 [Source:HGNC Symbol;...
1638
1638
DCT
dopachrome tautomerase [Source:HGNC Symbol...
27151
27151
CPAMD8
C3 and PZP like alpha-2-macroglobulin doma...
388552
388552
BLOC1S3
biogenesis of lysosomal organelles complex...
4157
4157
MC1R
melanocortin 1 receptor [Source:HGNC Symbo...
4286
4286
MITF
melanocyte inducing transcription factor [...
4948
4948
OCA2
OCA2 melanosomal transmembrane protein [So...
54507
54507
ADAMTSL4
ADAMTS like 4 [Source:HGNC Symbol;Acc:HGNC...
63915
63915
BLOC1S5
biogenesis of lysosomal organelles complex...
79803
79803
HPS6
HPS6 biogenesis of lysosomal organelles co...
80781
80781
COL18A1
collagen type XVIII alpha 1 chain [Source:...
83938
83938
LRMDA
leucine rich melanocyte differentiation as...
91851
91851
CHRDL1
chordin like 1 [Source:HGNC Symbol;Acc:HGN...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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