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Human Gene Set: REACTOME_DEFECTIVE_B4GALT1_CAUSES_B4GALT1_CDG_CDG_2D
Standard name
REACTOME_DEFECTIVE_B4GALT1_CAUSES_B4GALT1_CDG_CDG_2D
Systematic name
M27265
Brief description
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)
Full description or abstract
Collection
C2: Curated
CP: Canonical Pathways
CP:REACTOME: Reactome Pathways
Source publication
Exact source
R-HSA-3656244
Related gene sets
External links
https://www.reactome.org/content/detail/R-HSA-3656244
Filtered by similarity
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Source species
Homo sapiens
Contributed by
Reactome
Source platform or
identifier namespace
Human_Ensembl_Gene_ID
Dataset references
Download gene set
format:
grp
|
gmt
|
xml
|
json
|
TSV metadata
Compute overlaps
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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
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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 8 genes
Gene families
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Categorize
these 8 genes by gene family
Show members
(
show
8 source identifiers mapped to 8 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
ENSG00000086062
2683
B4GALT1
beta-1,4-galactosyltransferase 1 [S...
ENSG00000106809
4969
OGN
osteoglycin [Source:HGNC Symbol;Acc...
ENSG00000122176
2331
FMOD
fibromodulin [Source:HGNC Symbol;Ac...
ENSG00000127083
4958
OMD
osteomodulin [Source:HGNC Symbol;Ac...
ENSG00000139329
4060
LUM
lumican [Source:HGNC Symbol;Acc:HGN...
ENSG00000139330
11081
KERA
keratocan [Source:HGNC Symbol;Acc:H...
ENSG00000157766
176
ACAN
aggrecan [Source:HGNC Symbol;Acc:HG...
ENSG00000188783
5549
PRELP
proline and arginine rich end leuci...
Version history
2024.1.Hs: Updated to Reactome v89
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