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Human Gene Set: HP_ABNORMAL_GLOMERULAR_BASEMENT_MEMBRANE_MORPHOLOGY
Standard name
HP_ABNORMAL_GLOMERULAR_BASEMENT_MEMBRANE_MORPHOLOGY
Systematic name
M50050
Brief description
Abnormal glomerular basement membrane morphology
Full description or abstract
Any abnormal sttructure of the glomerular basement membrane. [PMID:29435440]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0033282
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0033282
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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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 13 genes
Gene families
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Categorize
these 13 genes by gene family
Show members
(
show
13 source identifiers mapped to 13 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
100147744
100147744
RNU7-1
RNA, U7 small nuclear 1 [Source:HGNC ...
1285
1285
COL4A3
collagen type IV alpha 3 chain [Sourc...
1286
1286
COL4A4
collagen type IV alpha 4 chain [Sourc...
1287
1287
COL4A5
collagen type IV alpha 5 chain [Sourc...
2625
2625
GATA3
GATA binding protein 3 [Source:HGNC S...
3075
3075
CFH
complement factor H [Source:HGNC Symb...
396
396
ARHGDIA
Rho GDP dissociation inhibitor alpha ...
4010
4010
LMX1B
LIM homeobox transcription factor 1 b...
51134
51134
CEP83
centrosomal protein 83 [Source:HGNC S...
7369
7369
UMOD
uromodulin [Source:HGNC Symbol;Acc:HG...
8526
8526
DGKE
diacylglycerol kinase epsilon [Source...
9722
9722
NOS1AP
nitric oxide synthase 1 adaptor prote...
977
977
CD151
CD151 molecule (Raph blood group) [So...
Version history
2025.1.Hs: Updated to HPO Release 2025-05-06.
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