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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:Progressive Familial Heart Block Type I
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Accession:DOID:9009094 term browser browse the term
Synonyms:exact_synonym: PFHB1;   PFHBI;   progressive familial heart block type 1

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show annotations for term's descendants           Sort by:
Progressive Familial Heart Block Type I term browser
Symbol Object Name 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 6:42,372,758...42,378,273
Ensembl chr 6:42,372,861...42,377,267 		JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 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 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: Heart block progressive familial type 1 ClinVar PMID:619595 PMID:20562447 PMID:21887725 PMID:23382873 PMID:26350513 More... NCBI chr 6:42,379,534...42,424,721
Ensembl chr 6:42,379,659...42,424,146 		JBrowse link
progressive familial heart block type IA term browser
Symbol Object Name 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 6:42,372,758...42,378,273
Ensembl chr 6:42,372,861...42,377,267 		JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar Annotator: match by term: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA ClinVar
OMIM		 PMID:235469 PMID:291807 PMID:461398 PMID:1309946 PMID:2107088 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: 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 6:42,379,534...42,424,721
Ensembl chr 6:42,379,659...42,424,146 		JBrowse link
progressive familial heart block type IB term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUNH19orf73 chromosome unknown C19orf73 homolog ISO ClinVar Annotator: match by term: Progressive familial heart block type IB ClinVar PMID:28492532 NCBI chr 6:42,341,863...42,342,754 JBrowse link
G GYS1 glycogen synthase 1 ISO ClinVar Annotator: match by term: Progressive familial heart block type IB ClinVar PMID:28492532 NCBI chr 6:42,200,487...42,227,660
Ensembl chr 6:42,200,455...42,227,285 		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 6:42,372,758...42,378,273
Ensembl chr 6:42,372,861...42,377,267 		JBrowse link
G KCNA7 potassium voltage-gated channel subfamily A member 7 ISO ClinVar Annotator: match by term: Progressive familial heart block type IB ClinVar PMID:28492532 NCBI chr 6:42,287,435...42,293,083
Ensembl chr 6:42,290,085...42,292,620 		JBrowse link
G LHB luteinizing hormone subunit beta ISO ClinVar Annotator: match by term: Progressive familial heart block type IB ClinVar PMID:28492532 NCBI chr 6:42,247,254...42,248,822 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 6:42,337,437...42,341,865
Ensembl chr 6:42,337,806...42,342,128 		JBrowse link
G NTF4 neurotrophin 4 ISO ClinVar Annotator: match by term: Progressive familial heart block type IB ClinVar PMID:28492532 NCBI chr 6:42,254,693...42,284,899
Ensembl chr 6:42,279,190...42,279,822 		JBrowse link
G PPFIA3 PTPRF interacting protein alpha 3 ISO ClinVar Annotator: match by term: Progressive familial heart block type IB ClinVar PMID:28492532 NCBI chr 6:42,342,791...42,372,598
Ensembl chr 6:42,350,203...42,371,720 		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 6:42,227,982...42,247,204
Ensembl chr 6:42,227,821...42,249,707 		JBrowse link
G SNRNP70 small nuclear ribonucleoprotein U1 subunit 70 ISO ClinVar Annotator: match by term: Progressive familial heart block type IB ClinVar PMID:28492532 NCBI chr 6:42,305,961...42,329,289
Ensembl chr 6:42,305,687...42,330,332 		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 condition OMIM
ClinVar		 PMID:619595 PMID:897853 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr 6:42,379,534...42,424,721
Ensembl chr 6:42,379,659...42,424,146 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15273
    physical disorder 4829
      congenital heart block 14
        progressive familial heart block 14
          Progressive Familial Heart Block Type I 12
            progressive familial heart block type IA 3
            progressive familial heart block type IB 11
Path 2
Term Annotations click to browse term
  disease 15273
    disease of anatomical entity 14893
      cardiovascular system disease 4266
        heart disease 2993
          Cardiac Arrhythmias 708
            Heart Block 65
              atrioventricular block 32
                congenital heart block 14
                  progressive familial heart block 14
                    Progressive Familial Heart Block Type I 12
                      progressive familial heart block type IA 3
                      progressive familial heart block type IB 11
paths to the root