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GENE - TERM ANNOTATION REPORT

RGD ID: 734035
Species: Homo sapiens
RGD Object: Gene
Symbol: ELP1
Name: elongator acetyltransferase complex subunit 1
Acc ID: DOID:10595
Term: Charcot-Marie-Tooth disease
Definition: A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm. (DO)
Definition Source(s): https://www.genome.gov/11009201 "DO" "DO", https://www.genome.gov/Genetic-Disorders/Charcot-Marie-Tooth-Disease "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)
ELP1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth diseasePMID:11179008 PMID:11179021 PMID:12116234 PMID:16964593 PMID:17206408 PMID:17576681 PMID:20301359 PMID:22190446 PMID:22850346 PMID:23515154 PMID:24033266 PMID:25741868 PMID:27065010 PMID:28492532 PMID:29762696 PMID:9536098
ELP1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth diseasePMID:11179008 PMID:11179021 PMID:12116234 PMID:22975760 PMID:25741868 PMID:28492532 PMID:29289840
ELP1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth diseasePMID:10090896 PMID:12687659 PMID:18091349 PMID:18197058 PMID:22975760 PMID:29290691
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