login
register
GSEA Home
Downloads
Molecular Signatures Database
Documentation
Contact
Team
MSigDB Home
Human Collections
About
Browse
Search
Investigate
Gene Families
Mouse Collections
About
Browse
Search
Investigate
Help
Human Gene Set: HP_LEUKOCORIA
Standard name
HP_LEUKOCORIA
Systematic name
M45393
Brief description
Leukocoria
Full description or abstract
An abnormal white reflection from the pupil rather than the usual black reflection. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0000555
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0000555
Filtered by similarity
?
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
|
gmt
|
xml
|
json
|
TSV metadata
Compute overlaps
?
(
show
collections to investigate for overlap with this gene set)
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
?
NG-CHM interactive heatmaps
(
Please note that clustering takes a few seconds
)
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 7 genes
Gene families
?
Categorize
these 7 genes by gene family
Show members
(
show
7 source identifiers mapped to 7 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
151188
151188
ARL6IP6
ADP ribosylation factor like GTPase 6 inter...
220202
220202
ATOH7
atonal bHLH transcription factor 7 [Source:...
26277
26277
TINF2
TERF1 interacting nuclear factor 2 [Source:...
2767
2767
GNA11
G protein subunit alpha 11 [Source:HGNC Sym...
4693
4693
NDP
norrin cystine knot growth factor NDP [Sour...
5925
5925
RB1
RB transcriptional corepressor 1 [Source:HG...
8322
8322
FZD4
frizzled class receptor 4 [Source:HGNC Symb...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
See
MSigDB license terms here
. Please note that certain gene sets have special access terms.