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GENE - TERM ANNOTATION REPORT

CRRD ID: 14138019
Species: Sus scrofa
CRRD Object: Gene
Symbol: RAB9B
Name: RAB9B, member RAS oncogene family
Acc ID: DOID:0110773
Term: hereditary spastic paraplegia 2
Definition: A hereditary spastic paraplegia that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22.2. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/8012387
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:125577539068941ClinVarClinVar Annotator: match by term: Spastic paraplegia 2

 
 ISSRGD:125577539068941ClinVarClinVar Annotator: match by term: Spastic paraplegia 2

PMID:12601703, PMID:16287154, PMID:28492532, PMID:7531827
 ISSRGD:125577539068941ClinVarClinVar Annotator: match by term: Spastic paraplegia 2

PMID:14452137, PMID:14745569, PMID:7522741, PMID:9427151
 ISSRGD:125577539068941ClinVarClinVar Annotator: match by term: Spastic paraplegia 2

PMID:17438221, PMID:24139698, PMID:28492532
 ISSRGD:125577539068941ClinVarClinVar Annotator: match by term: Spastic paraplegia 2

PMID:18414213, PMID:26467025, PMID:28492532
 ISSRGD:125577539068941ClinVarClinVar Annotator: match by term: Spastic paraplegia 2

PMID:18470932, PMID:28492532, PMID:9247276
 ISSRGD:125577539068941ClinVarClinVar Annotator: match by term: Spastic paraplegia 2

PMID:21679407, PMID:28492532
 ISSRGD:125577539068941ClinVarClinVar Annotator: match by term: Spastic paraplegia 2

PMID:25741868, PMID:26467025, PMID:27535533, PMID:28492532, PMID:8723686
 ISSRGD:125577539068941ClinVarClinVar Annotator: match by term: Spastic paraplegia 2

PMID:25741868, PMID:28492532
 ISSRGD:125577539068941ClinVarClinVar Annotator: match by term: Spastic paraplegia 2

PMID:26125040, PMID:28492532
 ISSRGD:125577539068941ClinVarClinVar Annotator: match by term: Spastic paraplegia 2

PMID:28492532
 ISSRGD:125577539068941ClinVarClinVar Annotator: match by term: Spastic paraplegia 2

PMID:28492532, PMID:9056547
 ISSRGD:125577539068941ClinVarClinVar Annotator: match by term: Spastic paraplegia 2

PMID:8012387, PMID:8320699
 ISSRGD:125577539068941ClinVarClinVar Annotator: match by term: Spastic paraplegia 2

PMID:8956049
 ISSRGD:125577539068941ClinVarClinVar Annotator: match by term: Spastic paraplegia 2

PMID:9489796
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.