Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

RGD ID: 2184
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Avp
Name: arginine vasopressin
Acc ID: DOID:12388
Term: neurohypophyseal diabetes insipidus
Definition: A central diabetes insipidus that is characterized by polyuria and polydipsia due to a deficiency in vasopressin synthesis and that has_material_basis_in heterozygous mutation in the arginine vasopressin gene (AVP) on chromosome 20p13. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/15070970/ "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)
Avp IEP 2301917RGD  
Avp ISOAVP (Homo sapiens)2301918RGDDNA:missense mutations: :multiple 
Avp ISOAVP (Homo sapiens)7240710OMIM  
Avp ISOAVP (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:7057320
Avp ISOAVP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Diabetes insipidus, neurohypophyseal, autosomal recessive | ClinVar Annotator: match by term: Neurohypophyseal diabetes insipidusPMID:10085151 PMID:10369876 PMID:10487710 PMID:11017955 PMID:11443218 PMID:12107248 PMID:14660745 PMID:14673472 PMID:15070970 PMID:1740104 PMID:1840604 PMID:25741868 PMID:28492532 PMID:31238300 PMID:3390991 PMID:6132221 PMID:7714110 PMID:8370681 PMID:8370682 PMID:8514868 PMID:8626836 PMID:8945633 PMID:9360520 PMID:9467595 PMID:9580132 PMID:9814475
Avp ISSAvp (Mus musculus)13592920MouseDOOMIM:125700 
Go Back to source page   Continue to Ontology report