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Human Gene Set: HP_APLASIA_HYPOPLASIA_OF_THE_LENS
Standard name
HP_APLASIA_HYPOPLASIA_OF_THE_LENS
Systematic name
M37176
Brief description
Aplasia/Hypoplasia of the lens
Full description or abstract
Absence or underdevelopment of the lens. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0008063
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0008063
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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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 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
1280
1280
COL2A1
collagen type II alpha 1 chain [Source:HGNC ...
2200
2200
FBN1
fibrillin 1 [Source:HGNC Symbol;Acc:HGNC:3603]
2248
2248
FGF3
fibroblast growth factor 3 [Source:HGNC Symb...
2301
2301
FOXE3
forkhead box E3 [Source:HGNC Symbol;Acc:HGNC...
23291
23291
FBXW11
F-box and WD repeat domain containing 11 [So...
27151
27151
CPAMD8
C3 and PZP like alpha-2-macroglobulin domain...
3166
3166
HMX1
H6 family homeobox 1 [Source:HGNC Symbol;Acc...
4010
4010
LMX1B
LIM homeobox transcription factor 1 beta [So...
4053
4053
LTBP2
latent transforming growth factor beta bindi...
4519
4519
MT-CYB
mitochondrially encoded cytochrome b [Source...
4693
4693
NDP
norrin cystine knot growth factor NDP [Sourc...
4796
4796
TONSL
tonsoku like, DNA repair protein [Source:HGN...
57479
57479
PRR12
proline rich 12 [Source:HGNC Symbol;Acc:HGNC...
64121
64121
RRAGC
Ras related GTP binding C [Source:HGNC Symbo...
64132
64132
XYLT2
xylosyltransferase 2 [Source:HGNC Symbol;Acc...
81794
81794
ADAMTS10
ADAM metallopeptidase with thrombospondin ty...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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