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Human Gene Set: HP_LACRIMAL_DUCT_APLASIA
Standard name
HP_LACRIMAL_DUCT_APLASIA
Systematic name
M37147
Brief description
Lacrimal duct aplasia
Full description or abstract
A congenital defect resulting in absence of the lacrimal duct. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0007925
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0007925
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
Compute overlaps
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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 10 genes
Gene families
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Categorize
these 10 genes by gene family
Show members
(
show
10 source identifiers mapped to 10 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
2138
2138
EYA1
EYA transcriptional coactivator and phosphata...
2255
2255
FGF10
fibroblast growth factor 10 [Source:HGNC Symb...
2261
2261
FGFR3
fibroblast growth factor receptor 3 [Source:H...
2263
2263
FGFR2
fibroblast growth factor receptor 2 [Source:H...
23426
23426
GRIP1
glutamate receptor interacting protein 1 [Sou...
341640
341640
FREM2
FRAS1 related extracellular matrix 2 [Source:...
6495
6495
SIX1
SIX homeobox 1 [Source:HGNC Symbol;Acc:HGNC:1...
80144
80144
FRAS1
Fraser extracellular matrix complex subunit 1...
8085
8085
KMT2D
lysine methyltransferase 2D [Source:HGNC Symb...
8295
8295
TRRAP
transformation/transcription domain associate...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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