GENE - TERM ANNOTATION REPORT

CRRD ID: 2507
Species: Rattus norvegicus
CRRD Object: Gene
Symbol: Dmd
Name: dystrophin
Acc ID: DOID:0050735
Term: X-linked monogenic disease
Definition: Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases.
Definition Source(s): MESH:D040181, http://en.wikipedia.org/wiki/Genetic_disorder#X-linked_dominant, http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns
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)
 ISOCRRD:7369768554872ClinVarClinVar Annotator: match by term: X-linked inheritance

 
 ISOCRRD:7369768554872ClinVarClinVar Annotator: match by term: X-linked inheritance

PMID:16770791, PMID:17253928, PMID:25007885, PMID:27425820, 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.