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Standards Ontologies Notations
focal segmental glomerulosclerosis 1

Summary
Synonym
  • FSGS1
Definition
A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the ACTN4 gene on chromosome 19q13.2.
Super Class
autosomal dominant disease focal segmental glomerulosclerosis
Disease Ontology
DOID:0111128
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
81 ACTN4 actinin alpha 4
87 ACTN1 actinin alpha 1
88 ACTN2 actinin alpha 2
1636 ACE angiotensin I converting enzyme
Displaying all 5 entries
Gene ID Gene Symbol Description Source
11421 Ace angiotensin I converting enzyme
11472 Actn2 actinin alpha 2
11474 Actn3 actinin alpha 3
18793 Plaur plasminogen activator, urokinase receptor
60595 Actn4 actinin alpha 4
Displaying 1 entry
Gene ID Gene Symbol Description Source
24310 Ace angiotensin I converting enzyme
Displaying all 2 entries
Gene ID Gene Symbol Description Source
34189 Acer Angiotensin-converting enzyme-related
34805 Ance Angiotensin converting enzyme
Displaying 1 entry
Gene ID Gene Symbol Description Source
565980 ace angiotensin I converting enzyme (peptidyl-dipeptidase A) 1
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
100144634 ace angiotensin I converting enzyme Xenopus tropicalis (tropical clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
180780 acn-1 Inactive angiotensin-converting enzyme-related protein
The Human Phenotype Ontology
Displaying entries 1 - 10 of 16 in total
HPO ID HPO Term
HP:0002027 Abdominal pain
HP:0100539 Periorbital edema
HP:0000737 Irritability
HP:0003774 Stage 5 chronic kidney disease
HP:0000097 Focal segmental glomerulosclerosis
HP:0002586 Peritonitis
HP:0012579 Minimal change glomerulonephritis
HP:0001945 Fever
HP:0000093 Proteinuria
HP:0002315 Headache
Displaying 1 entry
Gene ID Gene Symbol Description
51196 PLCE1 phospholipase C epsilon 1
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024