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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
 primary_id: MESH:C564888
 alt_id: OMIM:261740
 xref: ICD10CM:E74.0+;   ICD10CM:G73.6*;   ORDO:439854
For additional species annotation, visit the Alliance of Genome Resources.



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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...10,607,606
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 4:10,674,064...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 4:10,394,020...10,401,543
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 ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart | ClinVar Annotator: match by term: PHOSPHORYLASE KINASE DEFICIENCY OF HEART OMIM
ClinVar
PMID:9536098 PMID:10355918 PMID:10368461 PMID:10820940 PMID:11407343 More... NCBI chr 4:10,010,574...10,252,152
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, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 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 4:10,434,968...10,441,465
NCBI chr 4:10,423,496...10,437,437
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 18133
    physical disorder 4115
      lethal congenital glycogen storage disease of heart 25
Path 2
Term Annotations click to browse term
  disease 18133
    Developmental Disease 12879
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11579
        genetic disease 11109
          inherited metabolic disorder 4663
            carbohydrate metabolic disorder 2561
              glycogen metabolism disorder 248
                glycogen storage disease 248
                  lethal congenital glycogen storage disease of heart 25
paths to the root