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GENE - TERM ANNOTATION REPORT

19 Annotations Found.

An association has been curated linking DNM1L and encephalopathy due to defective mitochondrial and peroxisomal fission 1 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:11531293 (Homo sapiens)
  • 4 RGD objects have been annotated to encephalopathy due to defective mitochondrial and peroxisomal fission 1  (DOID:0070347)
  • 15 papers in RGD have been used to annotate DNM1L
  • Curation Notes: ClinVar Annotator: match by term: DNM1L-related condition
  • Original References(s): PMID:25741868 PMID:26992161 PMID:28492532 PMID:30801875 PMID:31475481


    • An association has been curated linking DNM1L and encephalopathy due to defective mitochondrial and peroxisomal fission 1 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:11531398 (Homo sapiens)
  • 4 RGD objects have been annotated to encephalopathy due to defective mitochondrial and peroxisomal fission 1  (DOID:0070347)
  • 15 papers in RGD have been used to annotate DNM1L
  • Curation Notes: ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1
  • Original References(s): PMID:25741868 PMID:26825290 PMID:27328748 PMID:28492532


    • An association has been curated linking DNM1L and encephalopathy due to defective mitochondrial and peroxisomal fission 1 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:11531432 (Homo sapiens)
  • 4 RGD objects have been annotated to encephalopathy due to defective mitochondrial and peroxisomal fission 1  (DOID:0070347)
  • 15 papers in RGD have been used to annotate DNM1L
  • Curation Notes: ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1
  • Original References(s): PMID:26825290


    • An association has been curated linking DNM1L and encephalopathy due to defective mitochondrial and peroxisomal fission 1 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:8596997 (Homo sapiens)
  • 4 RGD objects have been annotated to encephalopathy due to defective mitochondrial and peroxisomal fission 1  (DOID:0070347)
  • 15 papers in RGD have been used to annotate DNM1L
  • Curation Notes: ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1
  • Original References(s): PMID:17460227 PMID:20696759


    • An association has been curated linking DNM1L and encephalopathy due to defective mitochondrial and peroxisomal fission 1 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:11522964 (Homo sapiens)
  • 4 RGD objects have been annotated to encephalopathy due to defective mitochondrial and peroxisomal fission 1  (DOID:0070347)
  • 15 papers in RGD have been used to annotate DNM1L
  • Curation Notes: ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1
  • Original References(s): PMID:17460227


    • An association has been curated linking DNM1L and encephalopathy due to defective mitochondrial and peroxisomal fission 1 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 4 RGD objects have been annotated to encephalopathy due to defective mitochondrial and peroxisomal fission 1  (DOID:0070347)
  • 15 papers in RGD have been used to annotate DNM1L


    • An association has been curated linking DNM1L and encephalopathy due to defective mitochondrial and peroxisomal fission 1 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:11531395 (Homo sapiens)
  • 4 RGD objects have been annotated to encephalopathy due to defective mitochondrial and peroxisomal fission 1  (DOID:0070347)
  • 15 papers in RGD have been used to annotate DNM1L
  • Curation Notes: ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1
  • Original References(s): PMID:25326635 PMID:25741868 PMID:26931468


    • An association has been curated linking DNM1L and encephalopathy due to defective mitochondrial and peroxisomal fission 1 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:11531388 (Homo sapiens)
  • 4 RGD objects have been annotated to encephalopathy due to defective mitochondrial and peroxisomal fission 1  (DOID:0070347)
  • 15 papers in RGD have been used to annotate DNM1L
  • Curation Notes: ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1
  • Original References(s): PMID:18414213 PMID:20696759 PMID:26604000


    • An association has been curated linking DNM1L and encephalopathy due to defective mitochondrial and peroxisomal fission 1 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:40886713 (Homo sapiens)
  • 4 RGD objects have been annotated to encephalopathy due to defective mitochondrial and peroxisomal fission 1  (DOID:0070347)
  • 15 papers in RGD have been used to annotate DNM1L
  • Curation Notes: ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1
  • Original References(s): PMID:20696759 PMID:26931468 PMID:31587467


    • An association has been curated linking DNM1L and encephalopathy due to defective mitochondrial and peroxisomal fission 1 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:10409116|RGD:10409143|RGD:12843576|RGD:14708525|RGD:152155464|RGD:21072367 (Homo sapiens) & RGD:10409116|RGD:10409143|RGD:12843576|RGD:14708525|RGD:152155464|RGD:21072367 (Homo sapiens) & RGD:10409116|RGD:10409143|RGD:12843576|RGD:14708525|RGD:152155464|RGD:21072367 (Homo sapiens) & RGD:10409116|RGD:10409143|RGD:12843576|RGD:14708525|RGD:152155464|RGD:21072367 (Homo sapiens) & RGD:10409116|RGD:10409143|RGD:12843576|RGD:14708525|RGD:152155464|RGD:21072367 (Homo sapiens) & RGD:10409116|RGD:10409143|RGD:12843576|RGD:14708525|RGD:152155464|RGD:21072367 (Homo sapiens)
  • 4 RGD objects have been annotated to encephalopathy due to defective mitochondrial and peroxisomal fission 1  (DOID:0070347)
  • 15 papers in RGD have been used to annotate DNM1L
  • Curation Notes: ClinVar Annotator: match by term: DNM1L-related condition | ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1
  • Original References(s): PMID:28492532


    • An association has been curated linking DNM1L and encephalopathy due to defective mitochondrial and peroxisomal fission 1 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:13530034 (Homo sapiens)
  • 4 RGD objects have been annotated to encephalopathy due to defective mitochondrial and peroxisomal fission 1  (DOID:0070347)
  • 15 papers in RGD have been used to annotate DNM1L
  • Curation Notes: ClinVar Annotator: match by term: DNM1L-related condition
  • Original References(s): PMID:17576681 PMID:28492532 PMID:9536098


    • An association has been curated linking DNM1L and encephalopathy due to defective mitochondrial and peroxisomal fission 1 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:11665491|RGD:11665892|RGD:126731195|RGD:14719583|RGD:150557126|RGD:151663768|RGD:151713429|RGD:152153382|RGD:155800163|RGD:156247509|RGD:329848444|RGD:38461979|RGD:38597462|RGD:38598520|RGD:401721219|RGD:401855895|RGD:401963617|RGD:401963619|RGD:405027066|RGD:405701310 (Homo sapiens) & RGD:11665491|RGD:11665892|RGD:126731195|RGD:14719583|RGD:150557126|RGD:151663768|RGD:151713429|RGD:152153382|RGD:155800163|RGD:156247509|RGD:329848444|RGD:38461979|RGD:38597462|RGD:38598520|RGD:401721219|RGD:401855895|RGD:401963617|RGD:401963619|RGD:405027066|RGD:405701310 (Homo sapiens) & RGD:11665491|RGD:11665892|RGD:126731195|RGD:14719583|RGD:150557126|RGD:151663768|RGD:151713429|RGD:152153382|RGD:155800163|RGD:156247509|RGD:329848444|RGD:38461979|RGD:38597462|RGD:38598520|RGD:401721219|RGD:401855895|RGD:401963617|RGD:401963619|RGD:405027066|RGD:405701310 (Homo sapiens) & RGD:11665491|RGD:11665892|RGD:126731195|RGD:14719583|RGD:150557126|RGD:151663768|RGD:151713429|RGD:152153382|RGD:155800163|RGD:156247509|RGD:329848444|RGD:38461979|RGD:38597462|RGD:38598520|RGD:401721219|RGD:401855895|RGD:401963617|RGD:401963619|RGD:405027066|RGD:405701310 (Homo sapiens) & RGD:11665491|RGD:11665892|RGD:126731195|RGD:14719583|RGD:150557126|RGD:151663768|RGD:151713429|RGD:152153382|RGD:155800163|RGD:156247509|RGD:329848444|RGD:38461979|RGD:38597462|RGD:38598520|RGD:401721219|RGD:401855895|RGD:401963617|RGD:401963619|RGD:405027066|RGD:405701310 (Homo sapiens) & RGD:11665491|RGD:11665892|RGD:126731195|RGD:14719583|RGD:150557126|RGD:151663768|RGD:151713429|RGD:152153382|RGD:155800163|RGD:156247509|RGD:329848444|RGD:38461979|RGD:38597462|RGD:38598520|RGD:401721219|RGD:401855895|RGD:401963617|RGD:401963619|RGD:405027066|RGD:405701310 (Homo sapiens) & RGD:11665491|RGD:11665892|RGD:126731195|RGD:14719583|RGD:150557126|RGD:151663768|RGD:151713429|RGD:152153382|RGD:155800163|RGD:156247509|RGD:329848444|RGD:38461979|RGD:38597462|RGD:38598520|RGD:401721219|RGD:401855895|RGD:401963617|RGD:401963619|RGD:405027066|RGD:405701310 (Homo sapiens) & RGD:11665491|RGD:11665892|RGD:126731195|RGD:14719583|RGD:150557126|RGD:151663768|RGD:151713429|RGD:152153382|RGD:155800163|RGD:156247509|RGD:329848444|RGD:38461979|RGD:38597462|RGD:38598520|RGD:401721219|RGD:401855895|RGD:401963617|RGD:401963619|RGD:405027066|RGD:405701310 (Homo sapiens) & RGD:11665491|RGD:11665892|RGD:126731195|RGD:14719583|RGD:150557126|RGD:151663768|RGD:151713429|RGD:152153382|RGD:155800163|RGD:156247509|RGD:329848444|RGD:38461979|RGD:38597462|RGD:38598520|RGD:401721219|RGD:401855895|RGD:401963617|RGD:401963619|RGD:405027066|RGD:405701310 (Homo sapiens) & RGD:11665491|RGD:11665892|RGD:126731195|RGD:14719583|RGD:150557126|RGD:151663768|RGD:151713429|RGD:152153382|RGD:155800163|RGD:156247509|RGD:329848444|RGD:38461979|RGD:38597462|RGD:38598520|RGD:401721219|RGD:401855895|RGD:401963617|RGD:401963619|RGD:405027066|RGD:405701310 (Homo sapiens) & RGD:11665491|RGD:11665892|RGD:126731195|RGD:14719583|RGD:150557126|RGD:151663768|RGD:151713429|RGD:152153382|RGD:155800163|RGD:156247509|RGD:329848444|RGD:38461979|RGD:38597462|RGD:38598520|RGD:401721219|RGD:401855895|RGD:401963617|RGD:401963619|RGD:405027066|RGD:405701310 (Homo sapiens) & RGD:11665491|RGD:11665892|RGD:126731195|RGD:14719583|RGD:150557126|RGD:151663768|RGD:151713429|RGD:152153382|RGD:155800163|RGD:156247509|RGD:329848444|RGD:38461979|RGD:38597462|RGD:38598520|RGD:401721219|RGD:401855895|RGD:401963617|RGD:401963619|RGD:405027066|RGD:405701310 (Homo sapiens) & RGD:11665491|RGD:11665892|RGD:126731195|RGD:14719583|RGD:150557126|RGD:151663768|RGD:151713429|RGD:152153382|RGD:155800163|RGD:156247509|RGD:329848444|RGD:38461979|RGD:38597462|RGD:38598520|RGD:401721219|RGD:401855895|RGD:401963617|RGD:401963619|RGD:405027066|RGD:405701310 (Homo sapiens) & RGD:11665491|RGD:11665892|RGD:126731195|RGD:14719583|RGD:150557126|RGD:151663768|RGD:151713429|RGD:152153382|RGD:155800163|RGD:156247509|RGD:329848444|RGD:38461979|RGD:38597462|RGD:38598520|RGD:401721219|RGD:401855895|RGD:401963617|RGD:401963619|RGD:405027066|RGD:405701310 (Homo sapiens) & RGD:11665491|RGD:11665892|RGD:126731195|RGD:14719583|RGD:150557126|RGD:151663768|RGD:151713429|RGD:152153382|RGD:155800163|RGD:156247509|RGD:329848444|RGD:38461979|RGD:38597462|RGD:38598520|RGD:401721219|RGD:401855895|RGD:401963617|RGD:401963619|RGD:405027066|RGD:405701310 (Homo sapiens) & RGD:11665491|RGD:11665892|RGD:126731195|RGD:14719583|RGD:150557126|RGD:151663768|RGD:151713429|RGD:152153382|RGD:155800163|RGD:156247509|RGD:329848444|RGD:38461979|RGD:38597462|RGD:38598520|RGD:401721219|RGD:401855895|RGD:401963617|RGD:401963619|RGD:405027066|RGD:405701310 (Homo sapiens) & RGD:11665491|RGD:11665892|RGD:126731195|RGD:14719583|RGD:150557126|RGD:151663768|RGD:151713429|RGD:152153382|RGD:155800163|RGD:156247509|RGD:329848444|RGD:38461979|RGD:38597462|RGD:38598520|RGD:401721219|RGD:401855895|RGD:401963617|RGD:401963619|RGD:405027066|RGD:405701310 (Homo sapiens) & RGD:11665491|RGD:11665892|RGD:126731195|RGD:14719583|RGD:150557126|RGD:151663768|RGD:151713429|RGD:152153382|RGD:155800163|RGD:156247509|RGD:329848444|RGD:38461979|RGD:38597462|RGD:38598520|RGD:401721219|RGD:401855895|RGD:401963617|RGD:401963619|RGD:405027066|RGD:405701310 (Homo sapiens) & RGD:11665491|RGD:11665892|RGD:126731195|RGD:14719583|RGD:150557126|RGD:151663768|RGD:151713429|RGD:152153382|RGD:155800163|RGD:156247509|RGD:329848444|RGD:38461979|RGD:38597462|RGD:38598520|RGD:401721219|RGD:401855895|RGD:401963617|RGD:401963619|RGD:405027066|RGD:405701310 (Homo sapiens) & RGD:11665491|RGD:11665892|RGD:126731195|RGD:14719583|RGD:150557126|RGD:151663768|RGD:151713429|RGD:152153382|RGD:155800163|RGD:156247509|RGD:329848444|RGD:38461979|RGD:38597462|RGD:38598520|RGD:401721219|RGD:401855895|RGD:401963617|RGD:401963619|RGD:405027066|RGD:405701310 (Homo sapiens)
  • 4 RGD objects have been annotated to encephalopathy due to defective mitochondrial and peroxisomal fission 1  (DOID:0070347)
  • 15 papers in RGD have been used to annotate DNM1L
  • Curation Notes: ClinVar Annotator: match by term: DNM1L-related condition | ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1
  • Original References(s): PMID:25741868


    • An association has been curated linking DNM1L and encephalopathy due to defective mitochondrial and peroxisomal fission 1 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:12741650|RGD:155794734|RGD:156017076|RGD:21072357|RGD:21072359|RGD:21072364|RGD:401860216|RGD:405745486 (Homo sapiens) & RGD:12741650|RGD:155794734|RGD:156017076|RGD:21072357|RGD:21072359|RGD:21072364|RGD:401860216|RGD:405745486 (Homo sapiens) & RGD:12741650|RGD:155794734|RGD:156017076|RGD:21072357|RGD:21072359|RGD:21072364|RGD:401860216|RGD:405745486 (Homo sapiens) & RGD:12741650|RGD:155794734|RGD:156017076|RGD:21072357|RGD:21072359|RGD:21072364|RGD:401860216|RGD:405745486 (Homo sapiens) & RGD:12741650|RGD:155794734|RGD:156017076|RGD:21072357|RGD:21072359|RGD:21072364|RGD:401860216|RGD:405745486 (Homo sapiens) & RGD:12741650|RGD:155794734|RGD:156017076|RGD:21072357|RGD:21072359|RGD:21072364|RGD:401860216|RGD:405745486 (Homo sapiens) & RGD:12741650|RGD:155794734|RGD:156017076|RGD:21072357|RGD:21072359|RGD:21072364|RGD:401860216|RGD:405745486 (Homo sapiens) & RGD:12741650|RGD:155794734|RGD:156017076|RGD:21072357|RGD:21072359|RGD:21072364|RGD:401860216|RGD:405745486 (Homo sapiens)
  • 4 RGD objects have been annotated to encephalopathy due to defective mitochondrial and peroxisomal fission 1  (DOID:0070347)
  • 15 papers in RGD have been used to annotate DNM1L
  • Curation Notes: ClinVar Annotator: match by term: DNM1L-related condition | ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1


    • An association has been curated linking DNM1L and encephalopathy due to defective mitochondrial and peroxisomal fission 1 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:11546460|RGD:11548985|RGD:11549760|RGD:13525516|RGD:243063860 (Homo sapiens) & RGD:11546460|RGD:11548985|RGD:11549760|RGD:13525516|RGD:243063860 (Homo sapiens) & RGD:11546460|RGD:11548985|RGD:11549760|RGD:13525516|RGD:243063860 (Homo sapiens) & RGD:11546460|RGD:11548985|RGD:11549760|RGD:13525516|RGD:243063860 (Homo sapiens) & RGD:11546460|RGD:11548985|RGD:11549760|RGD:13525516|RGD:243063860 (Homo sapiens)
  • 4 RGD objects have been annotated to encephalopathy due to defective mitochondrial and peroxisomal fission 1  (DOID:0070347)
  • 15 papers in RGD have been used to annotate DNM1L
  • Curation Notes: ClinVar Annotator: match by term: DNM1L-related condition | ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking DNM1L and encephalopathy due to defective mitochondrial and peroxisomal fission 1 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:11531430 (Homo sapiens)
  • 4 RGD objects have been annotated to encephalopathy due to defective mitochondrial and peroxisomal fission 1  (DOID:0070347)
  • 15 papers in RGD have been used to annotate DNM1L
  • Curation Notes: ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1
  • Original References(s): PMID:27328748 PMID:28492532


    • An association has been curated linking DNM1L and encephalopathy due to defective mitochondrial and peroxisomal fission 1 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:14393104 (Homo sapiens)
  • 4 RGD objects have been annotated to encephalopathy due to defective mitochondrial and peroxisomal fission 1  (DOID:0070347)
  • 15 papers in RGD have been used to annotate DNM1L
  • Curation Notes: ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1
  • Original References(s): PMID:25741868 PMID:28492532 PMID:30850373 PMID:33644862


    • An association has been curated linking DNM1L and encephalopathy due to defective mitochondrial and peroxisomal fission 1 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:596925463 (Homo sapiens)
  • 4 RGD objects have been annotated to encephalopathy due to defective mitochondrial and peroxisomal fission 1  (DOID:0070347)
  • 15 papers in RGD have been used to annotate DNM1L
  • Curation Notes: ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1
  • Original References(s): PMID:23977156 PMID:25741868 PMID:29529134


    • An association has been curated linking DNM1L and encephalopathy due to defective mitochondrial and peroxisomal fission 1 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:10411409 (Homo sapiens)
  • 4 RGD objects have been annotated to encephalopathy due to defective mitochondrial and peroxisomal fission 1  (DOID:0070347)
  • 15 papers in RGD have been used to annotate DNM1L
  • Curation Notes: ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1
  • Original References(s): PMID:20696759 PMID:25741868 PMID:26604000 PMID:27145208 PMID:28492532 PMID:29529134 PMID:30939602


    • An association has been curated linking DNM1L and encephalopathy due to defective mitochondrial and peroxisomal fission 1 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:329848842 (Homo sapiens)
  • 4 RGD objects have been annotated to encephalopathy due to defective mitochondrial and peroxisomal fission 1  (DOID:0070347)
  • 15 papers in RGD have been used to annotate DNM1L
  • Curation Notes: ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1
  • Original References(s): PMID:12618434 PMID:23977156 PMID:25741868 PMID:28667181 PMID:29529134


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