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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:atrioventricular block
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Accession:DOID:0050820 term browser browse the term
Definition:A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart. (DO)
Synonyms:exact_synonym: AV block;   AV blocks;   Atrioventricular Blocks;   Atrioventricular Conduction Block;   Atrioventricular Conduction Blocks
 related_synonym: AV Block Third Degree Adverse Event
 primary_id: MESH:D054537
 xref: EFO:0005305;   ICD10CM:I44.3;   ICD9CM:426.10;   NCI:C26703


show annotations for term's descendants           Sort by:
atrioventricular block term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnai2 G protein subunit alpha i2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17277016 NCBI chr 9:107,491,324...107,512,542
Ensembl chr 9:107,491,324...107,512,566 		JBrowse link
G Lmna lamin A ISO DNA:missense mutation:cds:p.G613A (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:10580070 PMID:25469153 RGD:12791032 NCBI chr 3:88,388,455...88,413,842
Ensembl chr 3:88,387,454...88,417,263 		JBrowse link
G Myh6 myosin, heavy polypeptide 6, cardiac muscle, alpha ISO ClinVar Annotator: match by term: AV Block Third Degree Adverse Event ClinVar PMID:9536098 PMID:17576681 PMID:28492532 NCBI chr14:55,179,378...55,205,553
Ensembl chr14:55,179,378...55,204,384 		JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO DNA:nonsense mutation:exon:p.Y256X (c.768T>A) (human) RGD PMID:16896344 RGD:12914775 NCBI chr17:27,057,638...27,063,962
Ensembl chr17:27,057,638...27,063,983 		JBrowse link
G Scn5a sodium channel, voltage-gated, type V, alpha ISO ClinVar Annotator: match by term: AV block ClinVar PMID:11804990 PMID:15671429 PMID:18048769 PMID:19056759 PMID:22581653 More... NCBI chr 9:119,312,470...119,408,096
Ensembl chr 9:119,312,474...119,408,082 		JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32681584 PMID:33959666 NCBI chr 7:44,952,579...44,983,495
Ensembl chr 7:44,952,056...44,983,204 		JBrowse link
atrial heart septal defect 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v0e ATPase, H+ transporting, lysosomal V0 subunit E ISO ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chr17:26,895,370...26,918,621
Ensembl chr17:26,882,205...26,918,621 		JBrowse link
G Bnip1 BCL2/adenovirus E1B interacting protein 1 ISO ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chr17:26,999,876...27,011,539
Ensembl chr17:27,000,040...27,011,539 		JBrowse link
G Crebrf CREB3 regulatory factor ISO ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chr17:26,918,716...26,995,611
Ensembl chr17:26,934,624...26,995,609 		JBrowse link
G Dusp1 dual specificity phosphatase 1 ISO ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chr17:26,724,565...26,727,446
Ensembl chr17:26,724,564...26,781,102 		JBrowse link
G Ergic1 endoplasmic reticulum-golgi intermediate compartment 1 ISO ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chr17:26,779,736...26,875,908
Ensembl chr17:26,780,463...26,875,908 		JBrowse link
G Neurl1b neuralized E3 ubiquitin protein ligase 1B ISO ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chr17:26,633,833...26,665,295
Ensembl chr17:26,633,803...26,665,323 		JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO
IAGP		 ClinVar Annotator: match by term: Atrial septal defect 7 with or without atrioventricular conduction defects | ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome
CTD Direct Evidence: marker/mechanism
OMIM:108900		 OMIM
ClinVar
CTD
MouseDO		 PMID:1260978 PMID:9536098 PMID:9651244 PMID:10587520 PMID:10903346 More... NCBI chr17:27,057,638...27,063,962
Ensembl chr17:27,057,638...27,063,983 		JBrowse link
G Stc2 stanniocalcin 2 ISO ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chr11:31,309,441...31,320,061
Ensembl chr11:31,307,307...31,320,074 		JBrowse link
first-degree atrioventricular block term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh7 myosin, heavy polypeptide 7, cardiac muscle, beta ISO ClinVar Annotator: match by term: First degree atrioventricular block ClinVar PMID:21127202 PMID:24033266 PMID:25163546 PMID:25741868 PMID:26150528 More... NCBI chr14:55,208,141...55,232,083
Ensembl chr14:55,208,141...55,232,083 		JBrowse link
progressive familial heart block term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casq2 calsequestrin 2 ISO ClinVar Annotator: match by term: Progressive familial heart block ClinVar PMID:23861362 PMID:25741868 PMID:28404607 PMID:28492532 PMID:30615648 NCBI chr 3:101,993,731...102,053,830
Ensembl chr 3:101,993,731...102,053,830 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Progressive familial heart block ClinVar PMID:25741868 NCBI chr13:38,335,357...38,382,553
Ensembl chr13:38,335,270...38,382,553 		JBrowse link
G Hrc histidine rich calcium binding protein ISO ClinVar Annotator: match by term: Hereditary bundle branch system defect ClinVar PMID:619595 PMID:20562447 PMID:21887725 PMID:23382873 PMID:26350513 More... NCBI chr 7:44,984,693...44,988,397
Ensembl chr 7:44,984,714...44,988,398 		JBrowse link
G Scn5a sodium channel, voltage-gated, type V, alpha ISO ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar Annotator: match by term: Progressive familial heart block ClinVar PMID:235469 PMID:291807 PMID:461398 PMID:1309946 PMID:2107088 More... NCBI chr 9:119,312,470...119,408,096
Ensembl chr 9:119,312,474...119,408,082 		JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar Annotator: match by term: Progressive familial heart block ClinVar PMID:619595 PMID:20562447 PMID:21887725 PMID:23382873 PMID:26350513 More... NCBI chr 7:44,952,579...44,983,495
Ensembl chr 7:44,952,056...44,983,204 		JBrowse link
Progressive Familial Heart Block Type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hrc histidine rich calcium binding protein ISO ClinVar Annotator: match by term: Heart block progressive familial type 1 ClinVar PMID:619595 PMID:20562447 PMID:21887725 PMID:23382873 PMID:26350513 More... NCBI chr 7:44,984,693...44,988,397
Ensembl chr 7:44,984,714...44,988,398 		JBrowse link
G Scn5a sodium channel, voltage-gated, type V, alpha ISO ClinVar Annotator: match by term: HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I | ClinVar Annotator: match by term: Heart block progressive familial type 1 ClinVar PMID:235469 PMID:291807 PMID:461398 PMID:1309946 PMID:2107088 More... NCBI chr 9:119,312,470...119,408,096
Ensembl chr 9:119,312,474...119,408,082 		JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Heart block progressive familial type 1 ClinVar PMID:619595 PMID:20562447 PMID:21887725 PMID:23382873 PMID:26350513 More... NCBI chr 7:44,952,579...44,983,495
Ensembl chr 7:44,952,056...44,983,204 		JBrowse link
progressive familial heart block type IA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hrc histidine rich calcium binding protein ISO ClinVar Annotator: match by term: Hereditary bundle branch system defect ClinVar PMID:619595 PMID:20562447 PMID:21887725 PMID:23382873 PMID:26350513 More... NCBI chr 7:44,984,693...44,988,397
Ensembl chr 7:44,984,714...44,988,398 		JBrowse link
G Scn5a sodium channel, voltage-gated, type V, alpha susceptibility IAGP
ISO		 OMIM:113900
ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar Annotator: match by term: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA
CTD Direct Evidence: marker/mechanism		 MouseDO
OMIM
ClinVar
CTD		 PMID:235469 PMID:291807 PMID:461398 PMID:1309946 PMID:2107088 More... NCBI chr 9:119,312,470...119,408,096
Ensembl chr 9:119,312,474...119,408,082 		JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar Annotator: match by term: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA ClinVar PMID:619595 PMID:20562447 PMID:21887725 PMID:23382873 PMID:26350513 More... NCBI chr 7:44,952,579...44,983,495
Ensembl chr 7:44,952,056...44,983,204 		JBrowse link
progressive familial heart block type IB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gys1 glycogen synthase 1, muscle ISO ClinVar Annotator: match by term: Progressive familial heart block type IB ClinVar PMID:28492532 NCBI chr 7:45,084,263...45,106,041
Ensembl chr 7:45,084,268...45,106,043 		JBrowse link
G Hrc histidine rich calcium binding protein ISO ClinVar Annotator: match by term: Progressive familial heart block type 1B | ClinVar Annotator: match by term: Progressive familial heart block type IB ClinVar PMID:619595 PMID:20562447 PMID:21887725 PMID:23382873 PMID:26350513 More... NCBI chr 7:44,984,693...44,988,397
Ensembl chr 7:44,984,714...44,988,398 		JBrowse link
G Kcna7 potassium voltage-gated channel, shaker-related subfamily, member 7 ISO ClinVar Annotator: match by term: Progressive familial heart block type IB ClinVar PMID:28492532 NCBI chr 7:45,055,384...45,060,806
Ensembl chr 7:45,055,077...45,059,187 		JBrowse link
G Lhb luteinizing hormone beta ISO ClinVar Annotator: match by term: Progressive familial heart block type IB ClinVar PMID:28492532 NCBI chr 7:45,070,370...45,071,278
Ensembl chr 7:45,070,244...45,071,321 		JBrowse link
G Lin7b lin-7 homolog B, crumbs cell polarity complex component ISO ClinVar Annotator: match by term: Progressive familial heart block type IB ClinVar PMID:28492532 NCBI chr 7:45,017,315...45,019,988
Ensembl chr 7:45,017,315...45,020,007 		JBrowse link
G Ntf5 neurotrophin 5 ISO ClinVar Annotator: match by term: Progressive familial heart block type IB ClinVar PMID:28492532 NCBI chr 7:45,063,119...45,066,603
Ensembl chr 7:45,063,119...45,066,603 		JBrowse link
G Ppfia3 protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 ISO ClinVar Annotator: match by term: Progressive familial heart block type IB ClinVar PMID:28492532 NCBI chr 7:44,988,550...45,016,443
Ensembl chr 7:44,988,546...45,016,443 		JBrowse link
G Ruvbl2 RuvB-like AAA ATPase 2 ISO ClinVar Annotator: match by term: Progressive familial heart block type IB ClinVar PMID:28492532 NCBI chr 7:45,071,320...45,084,817
Ensembl chr 7:45,071,184...45,087,520 		JBrowse link
G Snrnp70 small nuclear ribonucleoprotein 70 (U1) ISO ClinVar Annotator: match by term: Progressive familial heart block type IB ClinVar PMID:28492532 NCBI chr 7:45,025,878...45,045,177
Ensembl chr 7:45,025,877...45,045,166 		JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Progressive familial heart block type 1B | ClinVar Annotator: match by term: Progressive familial heart block type IB | ClinVar Annotator: match by term: TRPM4-related disorder
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:619595 PMID:897853 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr 7:44,952,579...44,983,495
Ensembl chr 7:44,952,056...44,983,204 		JBrowse link
second-degree atrioventricular block term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Atrioventricular block, idiopathic second-degree ClinVar PMID:10587520 NCBI chr17:27,057,638...27,063,962
Ensembl chr17:27,057,638...27,063,983 		JBrowse link
third-degree atrioventricular block term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcna5 potassium voltage-gated channel, shaker-related subfamily, member 5 ISO ClinVar Annotator: match by term: Third degree atrioventricular block ClinVar PMID:28492532 NCBI chr 6:126,509,514...126,512,518
Ensembl chr 6:126,509,514...126,512,375 		JBrowse link
G Syne1 spectrin repeat containing, nuclear envelope 1 ISO ClinVar Annotator: match by term: Third degree atrioventricular block ClinVar NCBI chr10:4,970,192...5,501,013
Ensembl chr10:4,970,917...5,501,482 		JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 ISO ClinVar Annotator: match by term: Third degree atrioventricular block ClinVar NCBI chr 3:133,169,438...133,250,882
Ensembl chr 3:133,169,440...133,250,900 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Third degree atrioventricular block ClinVar PMID:23975875 PMID:25589632 PMID:25741868 PMID:28492532 PMID:31251381 More... NCBI chr 2:76,534,324...76,812,901
Ensembl chr 2:76,534,324...76,812,891 		JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Third degree atrioventricular block ClinVar NCBI chr19:44,994,102...45,001,203
Ensembl chr19:44,994,102...45,001,201 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16109
    disease of anatomical entity 15681
      cardiovascular system disease 4577
        heart disease 3204
          heart conduction disease 401
            atrioventricular block 30
              atrial heart septal defect 7 8
              congenital heart block + 13
              first-degree atrioventricular block 1
              second-degree atrioventricular block + 1
              third-degree atrioventricular block 5
Path 2
Term Annotations click to browse term
  disease 16109
    disease of anatomical entity 15681
      cardiovascular system disease 4577
        heart disease 3204
          Cardiac Arrhythmias 727
            Heart Block 63
              atrioventricular block 30
                atrial heart septal defect 7 8
                congenital heart block + 13
                first-degree atrioventricular block 1
                second-degree atrioventricular block + 1
                third-degree atrioventricular block 5
paths to the root