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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:focal segmental glomerulosclerosis 5
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Accession:DOID:0111130 term browser browse the term
Definition:A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the INF2 gene on chromosome 14q32.33. (DO)
Synonyms:exact_synonym: FSGS5
 broad_synonym: INF2-RELATED CONDITION
 primary_id: MESH:C567687
 alt_id: OMIM:613237



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focal segmental glomerulosclerosis 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adss1 adenylosuccinate synthase 1 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr12:112,586,481...112,607,789
Ensembl chr12:112,586,479...112,607,794
JBrowse link
G Ahnak2 AHNAK nucleoprotein 2 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr12:112,738,631...112,766,278
Ensembl chr12:112,738,628...112,766,277
JBrowse link
G Akt1 thymoma viral proto-oncogene 1 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr12:112,620,260...112,641,266
Ensembl chr12:112,620,255...112,641,318
JBrowse link
G Brf1 BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr12:112,919,251...112,964,327
Ensembl chr12:112,923,705...112,964,324
JBrowse link
G Btbd6 BTB domain containing 6 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr12:112,937,880...112,943,113
Ensembl chr12:112,940,102...112,942,565
JBrowse link
G Cdca4 cell division cycle associated 4 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr12:112,783,849...112,793,141
Ensembl chr12:112,783,849...112,793,043
JBrowse link
G Cep170b centrosomal protein 170B ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr12:112,687,950...112,713,026
Ensembl chr12:112,686,889...112,713,026
JBrowse link
G Clba1 clathrin binding box of aftiphilin containing 1 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr12:112,772,595...112,779,865
Ensembl chr12:112,772,557...112,779,872
JBrowse link
G Gpr132 G protein-coupled receptor 132 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr12:112,814,493...112,832,035
Ensembl chr12:112,814,493...112,831,848
JBrowse link
G Inf2 inverted formin, FH2 and WH2 domain containing ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 | ClinVar Annotator: match by term: INF2-related condition
OMIM
CTD
ClinVar
PMID:6054293 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20023659 More... NCBI chr12:112,555,121...112,581,991
Ensembl chr12:112,555,218...112,581,991
JBrowse link
G Jag2 jagged 2 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr12:112,871,439...112,893,437
Ensembl chr12:112,871,439...112,893,396
JBrowse link
G Nudt14 nudix hydrolase 14 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr12:112,897,911...112,905,762
Ensembl chr12:112,897,911...112,905,744
JBrowse link
G Pacs2 phosphofurin acidic cluster sorting protein 2 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr12:112,977,998...113,038,021
Ensembl chr12:112,978,128...113,038,021
JBrowse link
G Pld4 phospholipase D family member 4 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr12:112,727,089...112,735,420
Ensembl chr12:112,727,089...112,735,424
JBrowse link
G Siva1 SIVA1, apoptosis-inducing factor ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr12:112,611,262...112,615,586
Ensembl chr12:112,611,113...112,615,583
JBrowse link
G Zbtb42 zinc finger and BTB domain containing 42 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr12:112,645,042...112,649,181
Ensembl chr12:112,645,262...112,649,181
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18296
    Pathological Conditions, Signs and Symptoms 12329
      Pathologic Processes 7687
        Fibrosis 1555
          renal fibrosis 178
            glomerulosclerosis 137
              focal segmental glomerulosclerosis 122
                focal segmental glomerulosclerosis 5 16
Path 2
Term Annotations click to browse term
  disease 18296
    disease of anatomical entity 15613
      Urogenital Diseases 4868
        urinary system disease 2476
          kidney disease 2233
            nephritis 412
              glomerulonephritis 360
                glomerulosclerosis 137
                  focal segmental glomerulosclerosis 122
                    focal segmental glomerulosclerosis 5 16
paths to the root