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GENE - TERM ANNOTATION REPORT

RGD ID: 9022945
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Fkbp14
Name: FKBP prolyl isomerase 14
Acc ID: DOID:9006296
Term: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2
Definition: null
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:13233007240710OMIM  
 ISSRGD:117443079068941ClinVarClinVar Annotator: match by term: Ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

PMID:22265013
 ISSRGD:117443079068941ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

PMID:22265013, PMID:24677762, PMID:24773188, PMID:27149304, PMID:28492532
 ISSRGD:117443079068941ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

PMID:22265013, PMID:24677762, PMID:24773188, PMID:27149304, PMID:28492532, PMID:28617417, PMID:31132235
 ISSRGD:117443079068941ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

PMID:28492532
 ISSRGD:117443079068941ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

PMID:28617417, PMID:31132235
 ISSRGD:117443079068941OMIM  
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.