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GENE - TERM ANNOTATION REPORT

RGD ID: 1311705
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Fkbp14
Name: FKBP prolyl isomerase 14
Acc ID: DOID:0050557
Term: congenital muscular dystrophy
Definition: A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted. (DO)
Definition Source(s): http://rarediseases.org/rare-diseases/congenital-muscular-dystrophy/ "DO" "DO", https://www.ninds.nih.gov/Disorders/All-Disorders/Muscular-Dystrophy-Information-Page "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)
Fkbp14 ISOFKBP14 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophyPMID:22265013 PMID:24677762 PMID:25741868 PMID:26467025 PMID:27149304 PMID:27905128 PMID:28492532 PMID:28617417 PMID:30561154 PMID:31063316 PMID:31132235 PMID:33587123 PMID:34504686 PMID:36054293 PMID:36553464
Fkbp14 ISOFKBP14 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan relatedPMID:22265013 PMID:24677762 PMID:25741868 PMID:27149304 PMID:27905128 PMID:28492532 PMID:28617417 PMID:30561154 PMID:31063316 PMID:31132235
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