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GENE - TERM ANNOTATION REPORT

CRRD ID: 1563280
Species: Rattus norvegicus
CRRD Object: Gene
Symbol: Rab33a
Name: RAB33A, member RAS oncogene family
Acc ID: DOID:0110212
Term: Charcot-Marie-Tooth disease X-linked recessive 4
Definition: A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the AIFM1 gene on chromosome Xq26. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/23217327
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISORGD:13449858554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth disease with deafness and mental retardation

PMID:23217327, PMID:3856385
 ISORGD:13449858554872ClinVarClinVar Annotator: match by term: Cowchock syndrome

PMID:20362274, PMID:20818383, PMID:22019070, PMID:23217327, PMID:25583628, PMID:25741868, PMID:25934856, PMID:25986071, PMID:26173962, PMID:27102849, PMID:28492532, PMID:28842795, PMID:3856385
 ISORGD:13449858554872ClinVarClinVar Annotator: match by term: Cowchock syndrome

PMID:23806086, PMID:24088041, PMID:26257172, PMID:28492532
 ISORGD:13449858554872ClinVarClinVar Annotator: match by term: Cowchock syndrome

PMID:25590979, PMID:25741868
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.