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GENE - TERM ANNOTATION REPORT

RGD ID: 18915856
Species: Heterocephalus glaber
RGD Object: Gene
Symbol: Mbd5
Name: methyl-CpG binding domain protein 5
Acc ID: DOID:0070031
Term: autosomal dominant intellectual developmental disorder 1
Definition: An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the MBD5 gene on chromosome 2q23.1. (DO)
Definition Source(s): PMID:21981781 "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)
Mbd5 ISOMBD5 (Homo sapiens)7240710OMIM  
Mbd5 ISOMBD5 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder | ClinVar Annotator: match by term: MBD5-related conditionPMID:16199547 PMID:17576681 PMID:17847001 PMID:19809484 PMID:19904302 PMID:21981781 PMID:22726846 PMID:23055267 PMID:23422940 PMID:23587880 PMID:23632792 PMID:24885232 PMID:25326635 PMID:25640679 PMID:25741868 PMID:26350204 PMID:26467025 PMID:27222293 PMID:28008202 PMID:28074849 PMID:28454995 PMID:28492532 PMID:29655203 PMID:31820818 PMID:32193494 PMID:32238909 PMID:33057194 PMID:33427406 PMID:33912662 PMID:35385942 PMID:35982159 PMID:9536098
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