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 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
Advanced Search (OLGA)

GENE - TERM ANNOTATION REPORT

RGD ID: 1312481
Species: Homo sapiens
RGD Object: Gene
Symbol: ATG7
Name: autophagy related 7
Acc ID: DOID:0070412
Term: autosomal recessive spinocerebellar ataxia 31
Definition: An autosomal recessive cerebellar ataxia characterized by global developmental delay with hypotonia and variably impaired intellectual and language development that has_material_basis_in homozygous or compound heterozygous mutation in the ATG7 gene on chromosome 3p25. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/34161705/ "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)
ATG7 IAGP 7240710OMIM  
ATG7 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 31PMID:34161705
ATG7 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 31PMID:25741868 PMID:34161705
ATG7 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ATG7-related conditionPMID:25741868 PMID:28492532
ATG7 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 31PMID:25741868 PMID:35405176
ATG7 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 31PMID:25741868
ATG7 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 31 
Go Back to source page   Continue to Ontology report