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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: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/, https://www.ninds.nih.gov/Disorders/All-Disorders/Muscular-Dystrophy-Information-Page
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:117443079068941ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy

PMID:22265013, PMID:24677762, PMID:24773188, PMID:27149304, PMID:28492532, PMID:28617417, PMID:31132235
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.