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: 1351271
Species: Homo sapiens
RGD Object: Gene
Symbol: SALL4
Name: spalt like transcription factor 4
Acc ID: DOID:12557
Term: Duane retraction syndrome
Definition: Duane retraction syndrome is a strabismus characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in restriction or absence of abduction, adduction, or both, and narrowing of the palpebral fissure and retraction of the globe on attempted adduction. (DO)
Definition Source(s): https://www.genome.gov/Genetic-Disorders/Duane-Syndrome "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)
SALL4 IAGP 11532205RGDDNA:duplication:cds:c.410dupG (human) 
SALL4 IAGP 11556210RGDDNA:snps, deletions, insertion:multiple (human) 
SALL4 IAGP 11556211RGDDNA:frameshift mutation:cds:p.M640IfsX25 (human) 
SALL4 IAGP 11556231RGDDNA:nonsense mutation:cds:p.R905X (human) 
SALL4 IAGP 11556232RGDDNA:deletions, nonsense mutation:cds:c.1904delT, c.2425delG, p.R865X (human) 
SALL4 ISOSall4 (Mus musculus)11556215RGD  
SALL4 EXP 11554173CTDCTD Direct Evidence: marker/mechanismPMID:16402211 PMID:30067223
Go Back to source page   Continue to Ontology report