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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 sequencePMID: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 
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