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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 14
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Accession:DOID:9004100 term browser browse the term
Synonyms:exact_synonym: ATFB14;   SCN2B-RELATED CONDITION
 primary_id: MIM:615378


show annotations for term's descendants           Sort by:
Familial Atrial Fibrillation 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG4 ATP binding cassette subfamily G member 4 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr11:113,987,709...114,001,354
Ensembl chr11:117,916,043...117,929,636 		JBrowse link
G ARCN1 archain 1 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr11:113,411,166...113,441,792
Ensembl chr11:117,341,427...117,371,589 		JBrowse link
G ATP5MG ATP synthase membrane subunit g ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr11:113,236,010...113,243,661
Ensembl chr11:117,167,404...117,200,030 		JBrowse link
G BCL9L BCL9 like ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr11:113,735,852...113,765,811
Ensembl chr11:117,666,995...117,678,598 		JBrowse link
G C2CD2L C2CD2 like ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr11:113,944,939...113,955,296
Ensembl chr11:117,875,077...117,883,581 		JBrowse link
G CBL Cbl proto-oncogene ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr11:114,044,996...114,149,204
Ensembl chr11:117,973,187...118,074,671 		JBrowse link
G CENATAC centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr11:113,836,400...113,853,928
Ensembl chr11:117,766,526...117,784,125 		JBrowse link
G CXCR5 C-X-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr11:113,722,084...113,735,987
Ensembl chr11:117,652,368...117,664,852 		JBrowse link
G DDX6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr11:113,587,220...113,630,995
Ensembl chr11:117,515,778...117,559,364 		JBrowse link
G DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr11:113,934,705...113,940,535
Ensembl chr11:117,863,866...117,870,204 		JBrowse link
G DRC12 dynein regulatory complex subunit 12 homolog ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr11:114,028,927...114,034,620
Ensembl chr11:117,956,945...117,962,655 		JBrowse link
G FOXR1 forkhead box R1 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr11:113,809,875...113,819,093
Ensembl chr11:117,740,678...117,750,262 		JBrowse link
G HINFP histone H4 transcription factor ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr11:113,959,670...113,973,781
Ensembl chr11:117,888,855...117,902,184 		JBrowse link
G HMBS hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr11:113,923,004...113,931,732
Ensembl chr11:117,852,295...117,860,757 		JBrowse link
G HYOU1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr11:113,882,418...113,895,438
Ensembl chr11:117,812,975...117,824,005 		JBrowse link
G IFT46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr11:113,382,150...113,404,866
Ensembl chr11:117,312,894...117,335,319 		JBrowse link
G JAML junction adhesion molecule like ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr11:113,027,829...113,062,344
Ensembl chr11:116,960,436...116,994,373 		JBrowse link
G KMT2A lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr11:113,273,198...113,364,404
Ensembl chr11:117,204,820...117,290,100 		JBrowse link
G LOC100978919 T-cell surface glycoprotein CD3 epsilon chain ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr11:113,142,200...113,153,928
Ensembl chr11:117,074,041...117,085,625 		JBrowse link
G LOC100979261 T-cell surface glycoprotein CD3 gamma chain ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr11:113,179,270...113,190,104
Ensembl chr11:117,111,132...117,120,566 		JBrowse link
G LOC100979946 T-cell surface glycoprotein CD3 delta chain ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr11:113,174,007...113,179,244
Ensembl chr11:117,105,868...117,111,051 		JBrowse link
G LOC100994157 histone H2AX ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr11:113,932,078...113,933,679 JBrowse link
G MPZL2 myelin protein zero like 2 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr11:113,063,961...113,102,097
Ensembl chr11:117,023,102...117,034,209 		JBrowse link
G MPZL3 myelin protein zero like 3 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr11:113,063,957...113,089,929
Ensembl chr11:116,996,090...117,022,051 		JBrowse link
G NHERF4 NHERF family PDZ scaffold protein 4 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr11:114,024,150...114,028,884
Ensembl chr11:117,952,154...117,956,879 		JBrowse link
G NLRX1 NLR family member X1 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr11:114,007,415...114,022,712
Ensembl chr11:117,935,444...117,950,728 		JBrowse link
G PHLDB1 pleckstrin homology like domain family B member 1 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr11:113,446,275...113,496,941
Ensembl chr11:117,376,205...117,426,391 		JBrowse link
G RPS25 ribosomal protein S25 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr11:113,853,891...113,856,636
Ensembl chr11:117,784,075...117,787,104 		JBrowse link
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 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17556197 PMID:17576681 PMID:17623065 More... NCBI chr11:112,996,609...113,010,412
Ensembl chr11:116,928,676...116,942,500 		JBrowse link
G SCN4B sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr11:112,967,190...112,986,727
Ensembl chr11:116,899,268...116,918,892 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr11:113,862,537...113,869,447
Ensembl chr11:117,792,700...117,799,269 		JBrowse link
G TMEM25 transmembrane protein 25 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr11:113,368,595...113,384,290
Ensembl chr11:117,299,183...117,314,494 		JBrowse link
G TRAPPC4 trafficking protein particle complex subunit 4 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr11:113,856,661...113,861,855
Ensembl chr11:117,786,838...117,793,395 		JBrowse link
G TREH trehalase ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr11:113,496,561...113,519,230
Ensembl chr11:117,426,597...117,448,445 		JBrowse link
G TTC36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr11:113,364,559...113,368,586
Ensembl chr11:117,295,191...117,298,928 		JBrowse link
G UBE4A ubiquitination factor E4A ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr11:113,193,986...113,233,660
Ensembl chr11:117,131,100...117,162,385 		JBrowse link
G UPK2 uroplakin 2 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr11:113,768,506...113,796,564
Ensembl chr11:117,724,038...117,726,313 		JBrowse link
G VPS11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr11:113,905,989...113,920,163
Ensembl chr11:117,835,557...117,849,389 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15833
    Pathological Conditions, Signs and Symptoms 12339
      Pathologic Processes 7774
        Cardiac Arrhythmias 771
          atrial fibrillation 263
            familial atrial fibrillation 78
              Familial Atrial Fibrillation 14 38
Path 2
Term Annotations click to browse term
  disease 15833
    disease of anatomical entity 15489
      respiratory system disease 4887
        thoracic disease 3737
          heart disease 3188
            heart conduction disease 461
              atrial fibrillation 263
                familial atrial fibrillation 78
                  Familial Atrial Fibrillation 14 38
paths to the root