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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:lethal congenital glycogen storage disease of heart
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Accession:DOID:0090101 term browser browse the term
Definition:A glycogen storage disease characterized by glycogenosis confined to the heart, hypoglycemia and cyanosis, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the noncatalytic gamma-2 subunit of AMP-activated protein kinase (PRKAG2) on chromosome 7q36. (DO)
Synonyms:exact_synonym: fatal congenital hypertrophic cardiomyopathy due to GSD;   fatal congenital hypertrophic cardiomyopathy due to glycogenosis;   fatal congenital nonlysosomal cardiac glycogenosis;   glycogen storage disease of heart;   phosphorylase kinase deficiency of heart
 xref: ICD10CM:E74.0+;   ICD10CM:G73.6*;   MESH:C564888;   MIM:261740;   MONDO:0009867;   ORDO:439854


show annotations for term's descendants           Sort by:
lethal congenital glycogen storage disease of heart term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb8 ATP binding cassette subfamily B member 8 ISO ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart ClinVar PMID:28492532 NCBI chr 4:10,766,206...10,783,598
Ensembl chr 4:10,768,281...10,783,589 		JBrowse link
G Abcf2 ATP binding cassette subfamily F member 2 ISO ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart ClinVar PMID:28492532 NCBI chr 4:10,594,802...10,607,620
Ensembl chr 4:10,594,907...10,607,606 		JBrowse link
G Agap3 ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 ISO ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart ClinVar PMID:28492532 NCBI chr 4:10,674,746...10,724,848
Ensembl chr 4:10,674,064...10,725,244 		JBrowse link
G Asb10 ankyrin repeat and SOCS box-containing 10 ISO ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart ClinVar PMID:28492532 NCBI chr 4:10,630,318...10,644,270
Ensembl chr 4:10,630,448...10,639,060 		JBrowse link
G Asic3 acid sensing ion channel subunit 3 ISO ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart ClinVar PMID:28492532 NCBI chr 4:10,760,509...10,764,987
Ensembl chr 4:10,760,597...10,764,643 		JBrowse link
G Atg9b autophagy related 9B ISO ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart ClinVar PMID:28492532 NCBI chr 4:10,784,934...10,793,832
Ensembl chr 4:10,786,114...10,793,651 		JBrowse link
G Cdk5 cyclin-dependent kinase 5 ISO ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart ClinVar PMID:28492532 NCBI chr 4:10,754,682...10,760,110
Ensembl chr 4:10,754,687...10,760,112 		JBrowse link
G Chpf2 chondroitin polymerizing factor 2 ISO ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart ClinVar PMID:28492532 NCBI chr 4:10,578,470...10,585,940
Ensembl chr 4:10,580,462...10,585,916 		JBrowse link
G Crygn crystallin, gamma N ISO ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart ClinVar PMID:28492532 NCBI chr 4:10,394,015...10,401,542
Ensembl chr 4:10,394,020...10,401,543 		JBrowse link
G Fastk Fas-activated serine/threonine kinase ISO ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart ClinVar PMID:28492532 NCBI chr 4:10,732,273...10,736,332
Ensembl chr 4:10,732,256...10,737,430 		JBrowse link
G Galnt11 polypeptide N-acetylgalactosaminyltransferase 11 ISO ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart ClinVar PMID:18348270 PMID:25606385 PMID:28492532 NCBI chr 4:9,837,629...9,871,141
Ensembl chr 4:9,837,629...9,871,140 		JBrowse link
G Galntl5 polypeptide N-acetylgalactosaminyltransferase-like 5 ISO ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart ClinVar PMID:18348270 PMID:25606385 PMID:28492532 NCBI chr 4:9,873,426...9,923,297
Ensembl chr 4:9,873,428...9,923,136 		JBrowse link
G Gbx1 gastrulation brain homeobox 1 ISO ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart ClinVar PMID:28492532 NCBI chr 4:10,645,957...10,672,486
Ensembl chr 4:10,645,957...10,672,486 		JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart ClinVar PMID:28492532 NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008 		JBrowse link
G Kmt2c lysine methyltransferase 2C ISO ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart ClinVar PMID:18348270 PMID:25606385 PMID:28492532 NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539 		JBrowse link
G Mir671 microRNA 671 ISO ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart ClinVar PMID:28492532 NCBI chr 4:10,580,747...10,580,827
Ensembl chr 4:10,580,738...10,580,835 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart ClinVar PMID:28492532 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Nub1 negative regulator of ubiquitin-like proteins 1 ISO ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart ClinVar PMID:28492532 NCBI chr 4:10,442,917...10,473,689
Ensembl chr 4:10,442,917...10,473,694 		JBrowse link
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart | ClinVar Annotator: match by term: PHOSPHORYLASE KINASE DEFICIENCY OF HEART		 OMIM
CTD
ClinVar		 PMID:762819 PMID:2526523 PMID:9536098 PMID:10355918 PMID:10368461 More... NCBI chr 4:10,010,890...10,252,155
Ensembl chr 4:10,010,890...10,252,142 		JBrowse link
G Rheb Ras homolog, mTORC1 binding ISO ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart ClinVar PMID:28492532 NCBI chr 4:10,278,970...10,320,160
Ensembl chr 4:10,279,370...10,320,160 		JBrowse link
G Slc4a2 solute carrier family 4 member 2 ISO ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart ClinVar PMID:28492532 NCBI chr 4:10,736,419...10,754,407
Ensembl chr 4:10,736,425...10,752,965 		JBrowse link
G Smarcd3 SWI/SNF related BAF chromatin remodeling complex subunit D3 ISO ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart ClinVar PMID:28492532 NCBI chr 4:10,548,693...10,580,334
Ensembl chr 4:10,548,751...10,580,326 		JBrowse link
G Tmub1 transmembrane and ubiquitin-like domain containing 1 ISO ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart ClinVar PMID:28492532 NCBI chr 4:10,729,494...10,732,060
Ensembl chr 4:10,729,250...10,732,060 		JBrowse link
G Wdr86 WD repeat domain 86 ISO ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart ClinVar PMID:28492532 NCBI chr 4:10,423,496...10,443,473
Ensembl chr 4:10,424,008...10,441,465 		JBrowse link
G Xrcc2 X-ray repair cross complementing 2 ISO ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart ClinVar PMID:18348270 PMID:25606385 PMID:28492532 NCBI chr 4:9,423,873...9,502,980
Ensembl chr 4:9,423,898...9,442,482 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19106
    physical disorder 5182
      lethal congenital glycogen storage disease of heart 25
Path 2
Term Annotations click to browse term
  disease 19106
    Developmental Disease 14617
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13628
        genetic disease 13290
          inherited metabolic disorder 6608
            carbohydrate metabolic disorder 3411
              glycogen metabolism disorder 302
                glycogen storage disease 302
                  lethal congenital glycogen storage disease of heart 25
paths to the root