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: 1563858
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Hesx1
Name: HESX homeobox 1
Acc ID: DOID:0060857
Term: septooptic dysplasia
Definition: A syndrome characterized by the classical triad of optic nerve hypoplasia, pituitary gland hypoplasia and midline brain defects that has_material_basis_in mutation in the HESX1 gene on chromosome 3p14. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/8696006 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/9620767 "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)
Hesx1 ISOHESX1 (Homo sapiens)1601424RGDDNA:transition:CDS:p.R160C (478C>T) human 
Hesx1 ISOHESX1 (Homo sapiens)7240710OMIM  
Hesx1 ISOHESX1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Septo-optic dysplasia sequence | ClinVar Annotator: match by term: Septooptic dysplasia, mildPMID:10599689 PMID:11136712 PMID:11748154 PMID:14557462 PMID:16199547 PMID:16940453 PMID:17148560 PMID:17315526 PMID:17576681 PMID:18852528 PMID:19093031 PMID:21270112 PMID:21325470 PMID:22145475 PMID:22466334 PMID:23465708 PMID:24703149 PMID:25500790 PMID:25741868 PMID:25910213 PMID:26781211 PMID:27000987 PMID:2700987 PMID:27013732 PMID:27343026 PMID:28332357 PMID:28396770 PMID:28492532 PMID:30266296 PMID:30888394 PMID:31022718 PMID:31395954 PMID:32483926 PMID:32796691 PMID:32870266 PMID:33098107 PMID:33451138 PMID:34906519 PMID:8696006 PMID:9536098 PMID:9620767
Hesx1 ISSHesx1 (Mus musculus)13592920MouseDOOMIM:182230 
Go Back to source page   Continue to Ontology report