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_LENS_SUBLUXATION
Standard name
HP_LENS_SUBLUXATION
Systematic name
M35142
Brief description
Lens subluxation
Full description or abstract
Partial dislocation of the lens of the eye. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0001132
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0001132
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 15 genes
Gene families
?
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
1280
1280
COL2A1
collagen type II alpha 1 chain [Source:HGNC S...
23451
23451
SF3B1
splicing factor 3b subunit 1 [Source:HGNC Sym...
26610
26610
ELP4
elongator acetyltransferase complex subunit 4...
2767
2767
GNA11
G protein subunit alpha 11 [Source:HGNC Symbo...
2776
2776
GNAQ
G protein subunit alpha q [Source:HGNC Symbol...
4016
4016
LOXL1
lysyl oxidase like 1 [Source:HGNC Symbol;Acc:...
444
444
ASPH
aspartate beta-hydroxylase [Source:HGNC Symbo...
5130
5130
PCYT1A
phosphate cytidylyltransferase 1A, choline [S...
55214
55214
P3H2
prolyl 3-hydroxylase 2 [Source:HGNC Symbol;Ac...
57105
57105
CYSLTR2
cysteinyl leukotriene receptor 2 [Source:HGNC...
6297
6297
SALL2
spalt like transcription factor 2 [Source:HGN...
80781
80781
COL18A1
collagen type XVIII alpha 1 chain [Source:HGN...
8314
8314
BAP1
BRCA1 associated protein 1 [Source:HGNC Symbo...
875
875
CBS
cystathionine beta-synthase [Source:HGNC Symb...
91851
91851
CHRDL1
chordin like 1 [Source:HGNC Symbol;Acc:HGNC:2...
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.