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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
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Accession:DOID:0050650 term browser browse the term
Definition:An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes. (DO)
Synonyms:exact_synonym: ATFB;   familial atrial fibrillations
 xref: GARD:9740;   OMIM:PS608583;   ORDO:334


show annotations for term's descendants           Sort by:
familial atrial fibrillation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Familial atrial fibrillation ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356 		JBrowse link
G Gata5 GATA binding protein 5 ISO DNA:mutations:cds: c.413A>T(p.Y138F), c.628T>G (p.C210G)(human) RGD PMID:23295592 RGD:155260349 NCBI chr 3:167,418,563...167,426,751
Ensembl chr 3:167,418,565...167,426,751 		JBrowse link
G Gja5 gap junction protein, alpha 5 ISO ClinVar Annotator: match by term: Familial atrial fibrillation ClinVar PMID:12522116 PMID:28492532 NCBI chr 2:184,602,407...184,621,952
Ensembl chr 2:184,564,475...184,621,952 		JBrowse link
G Kcna5 potassium voltage-gated channel subfamily A member 5 ISO ClinVar Annotator: match by term: Familial atrial fibrillation ClinVar NCBI chr 4:159,354,689...159,358,173
Ensembl chr 4:159,350,097...159,357,697 		JBrowse link
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Familial atrial fibrillation ClinVar PMID:25741868 NCBI chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043 		JBrowse link
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 ISO ClinVar Annotator: match by term: Familial atrial fibrillation ClinVar PMID:25741868 PMID:28492532 NCBI chr10:96,060,834...96,071,397
Ensembl chr10:96,060,821...96,071,445 		JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Familial atrial fibrillation ClinVar PMID:9536098 PMID:17470695 PMID:17576681 PMID:19716085 PMID:19841300 More... NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669 		JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Familial atrial fibrillation ClinVar PMID:25741868 PMID:28492532 NCBI chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347 		JBrowse link
G Myl4 myosin, light chain 4 ISO ClinVar Annotator: match by term: Familial atrial fibrillation ClinVar PMID:27066836 PMID:28492532 PMID:29080865 NCBI chr10:89,449,456...89,485,365
Ensembl chr10:89,449,443...89,485,363 		JBrowse link
G Nkx2-6 NK2 homeobox 6 susceptibility ISO DNA:missense mutation:CDS:p.Q175H (human) RGD PMID:25319568 RGD:155882443 NCBI chr15:44,443,151...44,447,248
Ensembl chr15:44,443,101...44,447,247 		JBrowse link
Brugada syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn3b sodium voltage-gated channel beta subunit 3 ISO
ISS		 OMIM:613120
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrial fibrillation, familial, 16 | ClinVar Annotator: match by term: Brugada syndrome 7		 OMIM
MouseDO
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20031595 PMID:20042427 More... NCBI chr 8:40,630,372...40,652,869
Ensembl chr 8:40,630,455...40,652,868 		JBrowse link
Familial Atrial Fibrillation 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: ATFB1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293 		JBrowse link
Familial Atrial Fibrillation 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrial fibrillation, familial, 10		 CTD
OMIM
ClinVar		 PMID:291807 PMID:461398 PMID:1309946 PMID:3953067 PMID:8661019 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769 		JBrowse link
Familial Atrial Fibrillation 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja5 gap junction protein, alpha 5 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 11
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9588401 PMID:16790700 PMID:20818502 PMID:23348765 PMID:24060583 More... NCBI chr 2:184,602,407...184,621,952
Ensembl chr 2:184,564,475...184,621,952 		JBrowse link
Familial Atrial Fibrillation 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 12
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:15034580 PMID:17245405 PMID:17576681 PMID:24033266 More... NCBI chr 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356 		JBrowse link
Familial Atrial Fibrillation 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 13
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9461582 PMID:9539778 PMID:9697698 PMID:9894880 PMID:11254444 More... NCBI chr 1:86,353,917...86,363,820
Ensembl chr 1:86,353,917...86,363,739 		JBrowse link
Familial Atrial Fibrillation 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn2b sodium voltage-gated channel beta subunit 2 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 | ClinVar Annotator: match by term: SCN2B-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17556197 PMID:17576681 PMID:17623065 More... NCBI chr 8:45,425,629...45,437,765
Ensembl chr 8:45,425,629...45,437,765 		JBrowse link
Familial Atrial Fibrillation 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup155 nucleoporin 155 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrial fibrillation, familial, 15		 OMIM
CTD
ClinVar		 PMID:15596564 PMID:19070573 PMID:25741868 NCBI chr 2:57,201,310...57,252,918
Ensembl chr 2:57,201,272...57,254,148 		JBrowse link
Familial Atrial Fibrillation 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn4b sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 17 ClinVar PMID:23604097 NCBI chr 8:45,446,580...45,462,294
Ensembl chr 8:45,446,215...45,462,292 		JBrowse link
Familial Atrial Fibrillation 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myl4 myosin, light chain 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrial fibrillation, familial, 18 | ClinVar Annotator: match by term: MYL4-related condition		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:25807286 More... NCBI chr10:89,449,456...89,485,365
Ensembl chr10:89,449,443...89,485,363 		JBrowse link
Familial Atrial Fibrillation 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrial fibrillation, familial, 3		 CTD
OMIM
ClinVar		 PMID:234416 PMID:234515 PMID:1346223 PMID:1467812 PMID:1984130 More... NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669 		JBrowse link
Familial Atrial Fibrillation 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrial fibrillation, familial, 4		 OMIM
CTD
ClinVar		 PMID:10219239 PMID:10973849 PMID:10984545 PMID:11034315 PMID:11101505 More... NCBI chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043 		JBrowse link
Familial Atrial Fibrillation 6 term browser
Symbol Object Name Qualifiers 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
Familial Atrial Fibrillation 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcna1 potassium voltage-gated channel subfamily A member 1 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 7 ClinVar PMID:28492532 NCBI chr 4:159,464,223...159,472,905
Ensembl chr 4:159,464,188...159,472,682 		JBrowse link
G Kcna5 potassium voltage-gated channel subfamily A member 5 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 7 | ClinVar Annotator: match by term: KCNA5-related condition | ClinVar Annotator: match by term: altered potassium channel function
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15735608 PMID:16025157 PMID:16411137 PMID:16772329 PMID:17266934 More... NCBI chr 4:159,354,689...159,358,173
Ensembl chr 4:159,350,097...159,357,697 		JBrowse link
Familial Atrial Fibrillation 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfhx3 zinc finger homeobox 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrial fibrillation, familial, 8		 CTD
OMIM
ClinVar		 PMID:37449401 NCBI chr19:36,257,196...36,886,104
Ensembl chr19:36,630,254...36,881,771 		JBrowse link
Familial Atrial Fibrillation 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 9
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11371347 PMID:11841151 PMID:11861044 PMID:12086641 PMID:12148092 More... NCBI chr10:96,060,834...96,071,397
Ensembl chr10:96,060,821...96,071,445 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Pathologic Processes 7982
        Cardiac Arrhythmias 726
          atrial fibrillation 232
            familial atrial fibrillation 42
              Brugada syndrome 7 1
              Familial Atrial Fibrillation 1 1
              Familial Atrial Fibrillation 10 1
              Familial Atrial Fibrillation 11 1
              Familial Atrial Fibrillation 12 1
              Familial Atrial Fibrillation 13 1
              Familial Atrial Fibrillation 14 1
              Familial Atrial Fibrillation 15 1
              Familial Atrial Fibrillation 17 1
              Familial Atrial Fibrillation 18 1
              Familial Atrial Fibrillation 2 0
              Familial Atrial Fibrillation 3 1
              Familial Atrial Fibrillation 4 1
              Familial Atrial Fibrillation 5 0
              Familial Atrial Fibrillation 6 23
              Familial Atrial Fibrillation 7 2
              Familial Atrial Fibrillation 8 1
              Familial Atrial Fibrillation 9 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      cardiovascular system disease 5404
        heart disease 3320
          heart conduction disease 399
            atrial fibrillation 232
              familial atrial fibrillation 42
                Brugada syndrome 7 1
                Familial Atrial Fibrillation 1 1
                Familial Atrial Fibrillation 10 1
                Familial Atrial Fibrillation 11 1
                Familial Atrial Fibrillation 12 1
                Familial Atrial Fibrillation 13 1
                Familial Atrial Fibrillation 14 1
                Familial Atrial Fibrillation 15 1
                Familial Atrial Fibrillation 17 1
                Familial Atrial Fibrillation 18 1
                Familial Atrial Fibrillation 2 0
                Familial Atrial Fibrillation 3 1
                Familial Atrial Fibrillation 4 1
                Familial Atrial Fibrillation 5 0
                Familial Atrial Fibrillation 6 23
                Familial Atrial Fibrillation 7 2
                Familial Atrial Fibrillation 8 1
                Familial Atrial Fibrillation 9 1
paths to the root