FTP Download
Chinchilla Research Resource Database
   
Keyword
  

ONTOLOGY REPORT - ANNOTATIONS


Term:long QT syndrome 1
go back to main search page
Accession:DOID:0110644 term browser browse the term
Definition:A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNQ1 gene on chromosome 11p15.5-p15.4. (DO)
Synonyms:exact_synonym: LQT1;   LQT1 subtype;   long QT syndrome type 1;   long QT syndrome, LQT1 subtype;   ventricular fibrillation with prolonged QT interval
 primary_id: RDO:9000717
 xref: GARD:3284
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
long QT syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Calm2 calmodulin 2 JBrowse link 6 11,067,675 11,080,078 RGD:8554872
G Calm3 calmodulin 3 JBrowse link 1 78,844,520 78,851,628 RGD:8554872
G Dsp desmoplakin JBrowse link 17 27,286,811 27,334,453 RGD:8554872
G Kcnh2 potassium voltage-gated channel subfamily H member 2 JBrowse link 4 7,355,066 7,387,282 RGD:8554872
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 JBrowse link 1 216,293,087 216,630,339 RGD:8554872
RGD:13592920
G Scn5a sodium voltage-gated channel alpha subunit 5 JBrowse link 8 128,169,191 128,266,681 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      long QT syndrome 176
        long QT syndrome 1 6
Path 2
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        Congenital Abnormalities 3137
          Cardiovascular Abnormalities 780
            congenital heart disease 729
              long QT syndrome 176
                long QT syndrome 1 6
paths to the root