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Human Gene Set: HP_MACULAR_HYPOPLASIA
Standard name
HP_MACULAR_HYPOPLASIA
Systematic name
M35129
Brief description
Macular hypoplasia
Full description or abstract
Underdevelopment of the macula lutea. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0001104
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0001104
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
format:
grp
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gmt
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xml
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json
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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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Categorize
these 15 genes by gene family
Show members
(
show
15 source identifiers mapped to 15 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
10682
10682
EBP
EBP cholestenol delta-isomerase [Source:HGN...
1130
1130
LYST
lysosomal trafficking regulator [Source:HGN...
1806
1806
DPYD
dihydropyrimidine dehydrogenase [Source:HGN...
220202
220202
ATOH7
atonal bHLH transcription factor 7 [Source:...
3166
3166
HMX1
H6 family homeobox 1 [Source:HGNC Symbol;Ac...
3913
3913
LAMB2
laminin subunit beta 2 [Source:HGNC Symbol;...
4094
4094
MAF
MAF bZIP transcription factor [Source:HGNC ...
4693
4693
NDP
norrin cystine knot growth factor NDP [Sour...
5080
5080
PAX6
paired box 6 [Source:HGNC Symbol;Acc:HGNC:8...
51151
51151
SLC45A2
solute carrier family 45 member 2 [Source:H...
57724
57724
EPG5
ectopic P-granules 5 autophagy tethering fa...
79803
79803
HPS6
HPS6 biogenesis of lysosomal organelles com...
80781
80781
COL18A1
collagen type XVIII alpha 1 chain [Source:H...
8322
8322
FZD4
frizzled class receptor 4 [Source:HGNC Symb...
8777
8777
MPDZ
multiple PDZ domain crumbs cell polarity co...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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