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focal segmental glomerulosclerosis 6 - Ontology Report - Rat Genome Database

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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 6
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Accession:DOID:0111131 term browser browse the term
Definition:A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of the MYO1E gene on chromosome 15q22.2. (DO)
Synonyms:exact_synonym: FSGS6;   MYO1E-RELATED CONDITION
 primary_id: MIM:614131

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focal segmental glomerulosclerosis 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G LDHAL6B lactate dehydrogenase A like 6B ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6 ClinVar PMID:25741868 NCBI chr26:24,304,857...24,307,906
Ensembl chr26:24,305,289...24,306,434 		JBrowse link
G S Ldhal6b lactate dehydrogenase A like 6B ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6 ClinVar PMID:25741868 NCBI chrNW_004936489:9,281,228...9,283,132 JBrowse link
G D LDHAL6B lactate dehydrogenase A like 6B ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6 ClinVar PMID:25741868 NCBI chr 1:46,878,452...46,880,160 JBrowse link
G B LDHAL6B lactate dehydrogenase A like 6B ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6 ClinVar PMID:25741868 NCBI chr15:38,176,451...38,179,189
Ensembl chr15:56,484,343...56,485,488 		JBrowse link
G C Ldhal6b lactate dehydrogenase A like 6B ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6 ClinVar PMID:25741868 NCBI chrNW_004955439:4,954,208...4,956,660 JBrowse link
G R Ldhal6b lactate dehydrogenase A-like 6B ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6 ClinVar PMID:25741868 NCBI chr 1:45,997,845...45,999,268
Ensembl chr 1:45,991,991...45,999,272 		JBrowse link
G M Ldhal6b lactate dehydrogenase A-like 6B ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6 ClinVar PMID:25741868 NCBI chr17:5,467,598...5,469,042
Ensembl chr17:5,467,598...5,469,042 		JBrowse link
G H LDHAL6B lactate dehydrogenase A like 6B IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6 ClinVar PMID:25741868 NCBI chr15:59,206,843...59,208,588
Ensembl chr15:59,206,843...59,208,588 		JBrowse link
G H LOC112272600 Sharpr-MPRA regulatory region 4265 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6 ClinVar PMID:25741868 PMID:28492532 NCBI chr15:59,138,210...59,138,504 JBrowse link
G N Myo1e myosin IE ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6 | ClinVar Annotator: match by term: MYO1E-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21756023 PMID:25741868 PMID:28492532 More... NCBI chrNW_004624781:12,682,614...12,866,990
Ensembl chrNW_004624781:12,682,514...12,871,099 		JBrowse link
G G MYO1E myosin IE ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6 | ClinVar Annotator: match by term: MYO1E-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21756023 PMID:25741868 PMID:28492532 More... NCBI chr26:24,138,462...24,378,602
Ensembl chr26:24,138,829...24,379,143 		JBrowse link
G P MYO1E myosin IE ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6 | ClinVar Annotator: match by term: MYO1E-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21756023 PMID:25741868 PMID:28492532 More... NCBI chr 1:112,677,545...112,902,005
Ensembl chr 1:112,677,821...112,901,993 		JBrowse link
G S Myo1e myosin IE ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6 | ClinVar Annotator: match by term: MYO1E-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21756023 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936471:20,244,424...20,435,604
Ensembl chrNW_004936471:20,244,397...20,435,648 		JBrowse link
G D MYO1E myosin IE ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6 | ClinVar Annotator: match by term: MYO1E-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21756023 PMID:25741868 PMID:28492532 More... NCBI chr30:24,067,622...24,265,567
Ensembl chr30:24,068,283...24,265,311 		JBrowse link
G B MYO1E myosin IE ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6 | ClinVar Annotator: match by term: MYO1E-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21756023 PMID:25741868 PMID:28492532 More... NCBI chr15:38,106,599...38,343,040
Ensembl chr15:56,413,570...56,649,722 		JBrowse link
G C Myo1e myosin IE ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6 | ClinVar Annotator: match by term: MYO1E-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21756023 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955450:15,421,843...15,551,680
Ensembl chrNW_004955450:15,456,580...15,551,584 		JBrowse link
G R Myo1e myosin IE ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6 | ClinVar Annotator: match by term: MYO1E-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21756023 PMID:25741868 PMID:28492532 More... NCBI chr 8:79,768,828...79,961,048
Ensembl chr 8:70,887,870...71,080,169 		JBrowse link
G M Myo1e myosin IE ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6 | ClinVar Annotator: match by term: MYO1E-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21756023 PMID:25741868 PMID:28492532 More... NCBI chr 9:70,114,632...70,307,349
Ensembl chr 9:70,114,632...70,307,048 		JBrowse link
G H MYO1E myosin IE IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6 | ClinVar Annotator: match by term: MYO1E-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21756023 PMID:25741868 PMID:28492532 More... NCBI chr15:59,132,434...59,372,871
Ensembl chr15:59,132,434...59,372,871 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    Pathological Conditions, Signs and Symptoms 178736
      Pathologic Processes 103364
        Fibrosis 15185
          renal fibrosis 1847
            glomerulosclerosis 1448
              focal segmental glomerulosclerosis 1295
                focal segmental glomerulosclerosis 6 19
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      Urogenital Diseases 59340
        urinary system disease 37137
          kidney disease 23965
            nephritis 4489
              glomerulonephritis 3955
                glomerulosclerosis 1448
                  focal segmental glomerulosclerosis 1295
                    focal segmental glomerulosclerosis 6 19
paths to the root