Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

GENE - TERM ANNOTATION REPORT

RGD ID: 11098
Species: Mus musculus
RGD Object: Gene
Symbol: Phka2
Name: phosphorylase kinase alpha 2
Acc ID: DOID:0111042
Term: glycogen storage disease IXA
Definition: A glycogen storage disease IX characterized by hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis, but symptoms gradually disappear with age, that has_material_basis_in X-linked inheritance of mutation in the PHKA2 gene on chromosome Xp22. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/2303074 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/7711737 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Phka2 IAGP 26884353RGDDNA:mutations:multiple 
Phka2 IAGP 26884354RGDDNA:missense mutations:multiple  
Phka2 IAGP 26884355RGDDNA:mutations:multiple 
Phka2 ISOPHKA2 (Homo sapiens)7240710OMIM  
Phka2 ISOPHKA2 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Phka2 ISOPHKA2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar Annotator: match by term: Glycogen storage disease IXa2 | ClinVar Annotator: match by term: LIVER GLYCOGENOSIS, X-LINKED, TYPE IPMID:10330341 PMID:11286390 PMID:12862311 PMID:16199547 PMID:17304053 PMID:17576681 PMID:17689125 PMID:18076117 PMID:19763152 PMID:20307669 PMID:21634085 PMID:21646031 PMID:21857251 PMID:21911307 PMID:22406018 PMID:22899091 PMID:2303074 PMID:23578772 PMID:24055370 PMID:25070466 PMID:25266922 PMID:25315662 PMID:25741868 PMID:25741869 PMID:26157701 PMID:26944031 PMID:27103379 PMID:28085675 PMID:28283841 PMID:28468868 PMID:28492532 PMID:28600779 PMID:28627441 PMID:30659246 PMID:30945684 PMID:31248825 PMID:31508908 PMID:31987065 PMID:32244026 PMID:32387637 PMID:34093448 PMID:34117828 PMID:34277355 PMID:5306139 PMID:7711737 PMID:7847371 PMID:7959740 PMID:8733133 PMID:8733134 PMID:9536098 PMID:9600238 PMID:9835437 PMID:9870210
Go Back to source page   Continue to Ontology report