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
Accession: DOID:0111130
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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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:20803156 PMID:21258034 PMID:21415313 PMID:21866090 PMID:21998196 PMID:22187985 PMID:22961558 PMID:23014460 PMID:23349334 PMID:23515051 PMID:24174593 PMID:24750328 PMID:25165188 PMID:25407002 PMID:25676889 PMID:25741868 PMID:25741869 PMID:25943269 PMID:26086034 PMID:26248470 PMID:26467025 PMID:26467726 PMID:26764407 PMID:27350175 PMID:27549087 PMID:28166811 PMID:28492532 PMID:28658201 PMID:28780565 PMID:29653220 PMID:29869118 PMID:30126379 PMID:30373780 PMID:30406062 PMID:30586318 PMID:30680856 PMID:30773290 PMID:30962575 PMID:31328266 PMID:31515790 PMID:31924668 PMID:31937884 PMID:32451589 PMID:32604935 PMID:32901917 PMID:33443052 PMID:33712733 PMID:36506246 More...
NCBI chr12:112,555,121...112,581,991
Ensembl chr12:112,555,218...112,581,991
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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
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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
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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
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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
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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
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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
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