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GENE - TERM ANNOTATION REPORT

RGD ID: 11700463
Species: Pan paniscus
RGD Object: Gene
Symbol: MED25
Name: mediator complex subunit 25
Acc ID: DOID:9005442
Term: Basel-Vanagaite-Smirin-Yosef syndrome
Definition: An autosomal recessive multiple congenital anomaly disorder characterized by severely delayed psychomotor development resulting in mental retardation, as well as variable eye, brain, cardiac, and palatal abnormalities. (OMIM)
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)
MED25 ISOMED25 (Homo sapiens)7240710OMIM  
MED25 ISOMED25 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndromePMID:25488817 PMID:25527630 PMID:25741868 PMID:25792360 PMID:28170084 PMID:28492532 PMID:30039206 PMID:32324310 PMID:32371413 PMID:32376792 PMID:32816121 PMID:37091313
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