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Human Gene Set: HP_ABNORMAL_BOWMAN_CAPSULE_MORPHOLOGY
Standard name
HP_ABNORMAL_BOWMAN_CAPSULE_MORPHOLOGY
Systematic name
M43503
Brief description
Abnormal Bowman capsule morphology
Full description or abstract
A structural anomaly of the double-walled capsule (Bowman capsule) that opens into a renal tubule. []
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0031264
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0031264
Filtered by similarity
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2 similar ontology term(s) from the external resource)
External ID
External Name
HP:0031265
Abnormal glomerular visceral epithelial cell morphology
HP:0031266
Podocyte foot process effacement
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
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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
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10 source identifiers mapped to 10 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
10677
10677
AVIL
advillin [Source:HGNC Symbol;Acc:HGNC:14188]
2013
2013
EMP2
epithelial membrane protein 2 [Source:HGNC ...
23500
23500
DAAM2
dishevelled associated activator of morphog...
254428
254428
SLC41A1
solute carrier family 41 member 1 [Source:H...
55243
55243
KIRREL1
kirre like nephrin family adhesion molecule...
7535
7535
ZAP70
zeta chain of T cell receptor associated pr...
79693
79693
YRDC
yrdC N6-threonylcarbamoyltransferase domain...
8526
8526
DGKE
diacylglycerol kinase epsilon [Source:HGNC ...
8879
8879
SGPL1
sphingosine-1-phosphate lyase 1 [Source:HGN...
9722
9722
NOS1AP
nitric oxide synthase 1 adaptor protein [So...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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