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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:Familial Atrial Fibrillation 6
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Accession:DOID:9007581 term browser browse the term
Synonyms:exact_synonym: ATFB6
 broad_synonym: NPPA-RELATED CONDITION
 primary_id: MESH:C567400
 alt_id: OMIM:612201;   RDO:0015478


show annotations for term's descendants           Sort by:
Familial Atrial Fibrillation 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 2510039O18Rikl RIKEN cDNA 2510039O18 gene like ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:158,371,925...158,378,195
Ensembl chr 5:158,371,955...158,378,195 		JBrowse link
G Agtrap angiotensin II receptor-associated protein ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:158,507,427...158,519,036
Ensembl chr 5:158,508,749...158,519,036 		JBrowse link
G Angptl7 angiopoietin like 7 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:158,932,096...158,937,281
Ensembl chr 5:158,932,794...158,937,324 		JBrowse link
G C5h1orf127 similar to human chromosome 1 open reading frame 127 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:159,075,217...159,110,642
Ensembl chr 5:159,075,343...159,105,369 		JBrowse link
G C5h1orf167 similar to human chromosome 1 open reading frame 167 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:158,495,514...158,505,671 JBrowse link
G Casz1 castor zinc finger 1 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:159,243,965...159,393,935
Ensembl chr 5:159,243,995...159,393,400 		JBrowse link
G Clcn6 chloride voltage-gated channel 6 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:158,434,299...158,465,174
Ensembl chr 5:158,434,299...158,465,059 		JBrowse link
G Disp3 dispatched RND transporter family member 3 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:158,672,015...158,720,806
Ensembl chr 5:158,672,015...158,720,806 		JBrowse link
G Draxin dorsal inhibitory axon guidance protein ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:158,530,149...158,563,457
Ensembl chr 5:158,530,342...158,564,483 		JBrowse link
G Exosc10 exosome component 10 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:158,995,313...159,018,940
Ensembl chr 5:158,995,313...159,018,940 		JBrowse link
G Fbxo2 F-box protein 2 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:158,592,926...158,598,355
Ensembl chr 5:158,592,925...158,598,355 		JBrowse link
G Fbxo44 F-box protein 44 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:158,583,363...158,592,510
Ensembl chr 5:158,583,366...158,592,363 		JBrowse link
G Fbxo6 F-box protein 6 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:158,576,729...158,582,520
Ensembl chr 5:158,576,759...158,582,525 		JBrowse link
G Mad2l2 mitotic arrest deficient 2 like 2 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:158,563,545...158,576,698
Ensembl chr 5:158,563,567...158,576,693 		JBrowse link
G Masp2 MBL associated serine protease 2 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:159,035,892...159,049,561
Ensembl chr 5:159,035,911...159,049,580 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311 		JBrowse link
G Nppa natriuretic peptide A ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:6225642 PMID:9536098 PMID:15017020 PMID:17460430 PMID:17576681 More... NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351 		JBrowse link
G Nppb natriuretic peptide B ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168 		JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620 		JBrowse link
G Srm spermidine synthase ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:159,025,875...159,029,076
Ensembl chr 5:159,025,873...159,029,405 		JBrowse link
G Tardbp TAR DNA binding protein ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055 		JBrowse link
G Ubiad1 UbiA prenyltransferase domain containing 1 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:158,856,582...158,880,490
Ensembl chr 5:158,868,672...158,880,271 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    Pathological Conditions, Signs and Symptoms 13376
      Pathologic Processes 7988
        Cardiac Arrhythmias 725
          atrial fibrillation 232
            familial atrial fibrillation 42
              Familial Atrial Fibrillation 6 23
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      cardiovascular system disease 5412
        heart disease 3307
          heart conduction disease 399
            atrial fibrillation 232
              familial atrial fibrillation 42
                Familial Atrial Fibrillation 6 23
paths to the root