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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:Cardiac Conduction Defect
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Accession:DOID:9001836 term browser browse the term
Synonyms:primary_id: MIM:115080
 xref: EFO:0005304;   EFO:1001497

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show annotations for term's descendants           Sort by:
Cardiac Conduction Defect term browser
Symbol Object Name 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: cardiac conduction defect ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:26498160 PMID:28492532 NCBI chr11:21,658,804...21,797,851
Ensembl chr11:21,658,794...21,797,263 		JBrowse link
G ANK2 ankyrin 2 ISO ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:12571597 PMID:15178757 PMID:16253912 PMID:16650839 PMID:17242276 More... NCBI chr 7:60,487,776...61,174,351
Ensembl chr 7:60,938,523...61,175,519 		JBrowse link
G CASQ2 calsequestrin 2 ISO ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:25741868 PMID:27114410 PMID:28492532 NCBI chr20:17,937,089...18,008,433
Ensembl chr20:17,937,524...18,008,786 		JBrowse link
G DMD dystrophin ISO ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:29,543,003...32,218,011 JBrowse link
G DSG2 desmoglein 2 ISO ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:21606396 PMID:25741868 PMID:28492532 PMID:29517769 PMID:30847666 NCBI chr18:49,174,539...49,227,519
Ensembl chr18:49,174,409...49,227,347 		JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:20857253 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31983221 More... NCBI chr17:64,611,243...64,656,297
Ensembl chr17:64,611,103...64,656,366 		JBrowse link
G JUP junction plakoglobin ISO ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:25741868 PMID:27532257 PMID:28492532 PMID:30847666 NCBI chr16:64,470,974...64,503,085
Ensembl chr16:64,470,959...64,503,322 		JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:17088455 PMID:19322600 PMID:19841300 PMID:21410720 PMID:22581653 More... NCBI chr21:119,123,601...119,156,985
Ensembl chr21:119,124,007...119,156,794 		JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:9323054 PMID:10482963 PMID:10704188 PMID:10737999 PMID:10973849 More... NCBI chr 1:2,261,448...2,661,840
Ensembl chr 1:2,261,845...2,661,863 		JBrowse link
G LOC103231480 myosin-7 ISO ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:16199547 PMID:25741868 PMID:28492532 PMID:29343803 PMID:36923113 NCBI chr29:23,783,610...23,804,981
Ensembl chr29:23,783,557...23,799,771 		JBrowse link
G MYBPC3 myosin binding protein C3 ISO ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:9536098 PMID:15519027 PMID:16858239 PMID:17576681 PMID:18273486 More... NCBI chr 1:17,964,581...17,986,351
Ensembl chr 1:17,963,706...17,985,758 		JBrowse link
G NKX2-5 NK2 homeobox 5 ISO RGD PMID:11457872 RGD:12914774 NCBI chr23:75,391,833...75,399,003
Ensembl chr23:75,391,847...75,395,205 		JBrowse link
G PKP2 plakophilin 2 ISO ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:17010805 PMID:20400443 PMID:23183494 PMID:23396983 PMID:23861362 More... NCBI chr11:32,225,743...32,333,951
Ensembl chr11:32,225,600...32,333,615 		JBrowse link
G RBM20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 9:103,583,722...103,775,391
Ensembl chr 9:103,703,569...103,777,934 		JBrowse link
G RYR2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:19926015 PMID:21964171 PMID:23204524 PMID:23396983 PMID:23861362 More... NCBI chr25:74,169,024...74,951,371
Ensembl chr25:74,389,122...74,953,451 		JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:10508990 PMID:10961955 PMID:10973849 PMID:17210839 PMID:17210841 More... NCBI chr15:767,854...869,787
Ensembl chr15:794,963...867,457 		JBrowse link
G TRPM4 transient receptor potential cation channel subfamily M member 4 ISO ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:21887725 PMID:23382873 PMID:25416190 PMID:25741868 PMID:28492532 NCBI chr 6:42,379,534...42,424,721
Ensembl chr 6:42,379,659...42,424,146 		JBrowse link
G TTR transthyretin ISO ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:10439123 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29875424 More... NCBI chr18:49,124,302...49,131,495
Ensembl chr18:49,124,121...49,131,399 		JBrowse link
Cardiac Conduction Defect, Nonspecific term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Cardiac conduction defect, nonspecific ClinVar PMID:2030070 PMID:9521325 PMID:10532948 PMID:10618304 PMID:11029409 More... NCBI chr15:767,854...869,787
Ensembl chr15:794,963...867,457 		JBrowse link
Cardiac Conduction Disease with or without Dilated Cardiomyopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNA lamin A/C ISO DNA:missense mutations:cds:multiple (human) RGD PMID:10580070 RGD:11066902 NCBI chr20:7,723,059...7,748,799
Ensembl chr20:7,723,477...7,748,780 		JBrowse link
G LOC103224612 fucose-1-phosphate guanylyltransferase ISO ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy | ClinVar Annotator: match by term: TNNI3K-related condition ClinVar PMID:16199547 PMID:24925317 PMID:25741868 PMID:25791106 PMID:28492532 More... NCBI chr20:58,618,409...58,941,264
Ensembl chr20:58,945,638...58,953,526
Ensembl chr20:58,945,638...58,953,526 		JBrowse link
G LRRC53 leucine rich repeat containing 53 ISO ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy | ClinVar Annotator: match by term: TNNI3K-related condition ClinVar PMID:25741868 PMID:28492532 PMID:30010057 PMID:34203974 NCBI chr20:58,640,427...58,693,003
Ensembl chr20:58,679,269...58,692,748 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15275
    syndrome 9994
      Brugada syndrome 125
        Cardiac Conduction Defect 21
          Cardiac Conduction Defect, Nonspecific 1
          Cardiac Conduction Disease with or without Dilated Cardiomyopathy 3
Path 2
Term Annotations click to browse term
  disease 15275
    Developmental Disease 13251
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12365
        genetic disease 12018
          monogenic disease 10116
            Brugada syndrome 125
              Cardiac Conduction Defect 21
                Cardiac Conduction Defect, Nonspecific 1
                Cardiac Conduction Disease with or without Dilated Cardiomyopathy 3
paths to the root