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GENE - TERM ANNOTATION REPORT

RGD ID: 1315001
Species: Homo sapiens
RGD Object: Gene
Symbol: CPSF1
Name: cleavage and polyadenylation specific factor 1
Acc ID: DOID:0090017
Term: epidermolysis bullosa simplex with muscular dystrophy
Definition: An syndrome characterized by early childhood onset of progressive muscular dystrophy and blistering skin changes and that has_material_basis_in homozygous or compound heterozygous mutation in the PLEC gene on chromosome 8q24. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/2662909 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/8696340 "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)
CPSF1 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophyPMID:28492532
CPSF1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophyPMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526
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