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GENE - TERM ANNOTATION REPORT

RGD ID: 1359718
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Wdr45
Name: WD repeat domain 45
Acc ID: DOID:0110739
Term: neurodegeneration with brain iron accumulation 5
Definition: A neurodegeneration with brain iron accumulation that has_material_basis_in X-linked dominant inheritance of mutation in the WDR45 gene on chromosome Xp11.23. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/23176820 "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)
Wdr45 ISOWDR45 (Homo sapiens)7240710OMIM  
Wdr45 ISOWDR45 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Wdr45 ISOWDR45 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 | ClinVar Annotator: match by term: STATIC ENCEPHALOPATHY OF CHILDHOOD WITH NEURODEGENERATION IN ADULTHOODPMID:16199547 PMID:17576681 PMID:22892189 PMID:23176820 PMID:23435086 PMID:23687123 PMID:24368176 PMID:24621584 PMID:24896178 PMID:25263061 PMID:25326635 PMID:25356899 PMID:25533962 PMID:25741868 PMID:25741887 PMID:25744623 PMID:26467025 PMID:26609730 PMID:26633542 PMID:26790960 PMID:27030146 PMID:27159028 PMID:27652284 PMID:27681470 PMID:28191889 PMID:28492532 PMID:28554332 PMID:28711740 PMID:28878728 PMID:28932395 PMID:29082105 PMID:29171013 PMID:29389947 PMID:29445477 PMID:29681108 PMID:29981852 PMID:30542205 PMID:30612247 PMID:30713893 PMID:31332960 PMID:31487502 PMID:31665836 PMID:32307390 PMID:32382396 PMID:32387008 PMID:33037762 PMID:34368840 PMID:34906502 PMID:9536098
Wdr45 ISSWdr45 (Mus musculus)13592920MouseDOOMIM:300894 
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