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GENE - TERM ANNOTATION REPORT

CRRD ID: 12421247
Species: Canis lupus familiaris
CRRD Object: Gene
Symbol: RAB33A
Name: RAB33A, member RAS oncogene family
Acc ID: DOID:0050542
Term: Charcot-Marie-Tooth disease type X
Definition: A Charcot-Marie-Tooth disease that has_material_basis_in X-linked inheritance of a point mutation in the connexin-32 gene. (DO)
Definition Source(s): http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm
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)
 ISSRGD:90556179068941ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X

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
 ISSRGD:90556179068941ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X

PMID:28492532
 ISSRGD:90556179068941ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X

PMID:28492532, PMID:28888069
 ISSRGD:90556179068941ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth, X-linked

PMID:23806086, PMID:24088041, PMID:26257172, PMID:28492532
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.