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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Emd and Emery-Dreifuss muscular dystrophy in Chinchilla lanigera.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • 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 from sequence orthology with EMD (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 116 RGD objects have been annotated to Emery-Dreifuss muscular dystrophy  (DOID:11726)
  • 2 papers in RGD have been used to annotate Emd
  • Curation Notes: ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy
  • Original References(s): PMID:10220866 PMID:10323252 PMID:10382909 PMID:10382910 PMID:10393813 PMID:10399752 PMID:10428430 PMID:10480214 PMID:10874323 PMID:11385714 PMID:11587540 PMID:11748843 PMID:1178008 PMID:11968085 PMID:12872622 PMID:15328537 PMID:15967842 PMID:16080119 PMID:16199547 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17067998 PMID:17355552 PMID:17576681 PMID:17620497 PMID:18646565 PMID:19377476 PMID:19396829 PMID:19846429 PMID:1998333 PMID:19997654 PMID:20474083 PMID:20730588 PMID:21496632 PMID:21520333 PMID:21697856 PMID:21993399 PMID:22281021 PMID:22382802 PMID:23169761 PMID:23349452 PMID:23395478 PMID:23409742 PMID:23660394 PMID:23785128 PMID:24033266 PMID:24365856 PMID:24375709 PMID:24503780 PMID:24962355 PMID:25030574 PMID:25210889 PMID:25741868 PMID:26187847 PMID:26247046 PMID:26415001 PMID:26467025 PMID:26471271 PMID:26675233 PMID:26820365 PMID:26899768 PMID:28492532 PMID:29334594 PMID:29349559 PMID:29961767 PMID:30079154 PMID:30763825 PMID:30847666 PMID:31024910 PMID:31185657 PMID:31474437 PMID:31475473 PMID:31645980 PMID:31718017 PMID:31977013 PMID:32860008 PMID:32880476 PMID:33124102 PMID:34026875 PMID:34524739 PMID:7294729 PMID:7894480 PMID:8589715 PMID:8595406 PMID:8595407 PMID:8595433 PMID:8655156 PMID:9195226 PMID:9266737 PMID:9384614 PMID:9472006 PMID:9536090 PMID:9536098


    • An association has been curated linking Emd and Emery-Dreifuss muscular dystrophy in Chinchilla lanigera.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • 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 from sequence orthology with EMD (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 116 RGD objects have been annotated to Emery-Dreifuss muscular dystrophy  (DOID:11726)
  • 2 papers in RGD have been used to annotate Emd
  • Curation Notes: ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy
  • Original References(s): PMID:10323252 PMID:10382909 PMID:10393813 PMID:10399752 PMID:10428430 PMID:10480214 PMID:11385714 PMID:1178008 PMID:15967842 PMID:16080119 PMID:17067998 PMID:17355552 PMID:17576681 PMID:18646565 PMID:19345147 PMID:1998333 PMID:20474083 PMID:21496632 PMID:21697856 PMID:23169761 PMID:23349452 PMID:23395478 PMID:23785128 PMID:24033266 PMID:24365856 PMID:24503780 PMID:25741868 PMID:26187847 PMID:26415001 PMID:26467025 PMID:26675233 PMID:26899768 PMID:28492532 PMID:31185657 PMID:31474437 PMID:32860008 PMID:34524739 PMID:7294729 PMID:7894480 PMID:8589715 PMID:8595406 PMID:8595407 PMID:8595433 PMID:8655156 PMID:9384614 PMID:9472006 PMID:9536090 PMID:9536098


    • An association has been curated linking Emd and Emery-Dreifuss muscular dystrophy in Chinchilla lanigera.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • 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 from sequence orthology with EMD (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 116 RGD objects have been annotated to Emery-Dreifuss muscular dystrophy  (DOID:11726)
  • 2 papers in RGD have been used to annotate Emd
  • Curation Notes: ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy
  • Original References(s): PMID:10220866 PMID:10323252 PMID:10382909 PMID:10382910 PMID:10393813 PMID:10399752 PMID:10428430 PMID:10480214 PMID:10874323 PMID:11385714 PMID:11587540 PMID:11748843 PMID:1178008 PMID:11968085 PMID:12872622 PMID:15328537 PMID:15967842 PMID:16080119 PMID:16199547 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17067998 PMID:17355552 PMID:17576681 PMID:17620497 PMID:18646565 PMID:19377476 PMID:19396829 PMID:19846429 PMID:1998333 PMID:19997654 PMID:20474083 PMID:20730588 PMID:21496632 PMID:21520333 PMID:21697856 PMID:21993399 PMID:22281021 PMID:22382802 PMID:23169761 PMID:23349452 PMID:23395478 PMID:23409742 PMID:23660394 PMID:23785128 PMID:24033266 PMID:24365856 PMID:24375709 PMID:24503780 PMID:24962355 PMID:25030574 PMID:25210889 PMID:25741868 PMID:26187847 PMID:26247046 PMID:26415001 PMID:26467025 PMID:26471271 PMID:26675233 PMID:26820365 PMID:26899768 PMID:27854218 PMID:28492532 PMID:29334594 PMID:29349559 PMID:29961767 PMID:30079154 PMID:30763825 PMID:30847666 PMID:31024910 PMID:31185657 PMID:31474437 PMID:31475473 PMID:31645980 PMID:31718017 PMID:32860008 PMID:32880476 PMID:33124102 PMID:34026875 PMID:34524739 PMID:7294729 PMID:7894480 PMID:8589715 PMID:8595406 PMID:8595407 PMID:8595433 PMID:8655156 PMID:9195226 PMID:9266737 PMID:9384614 PMID:9472006 PMID:9536090 PMID:9536098


    • An association has been curated linking Emd and Emery-Dreifuss muscular dystrophy in Chinchilla lanigera.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • 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 from sequence orthology with EMD (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 116 RGD objects have been annotated to Emery-Dreifuss muscular dystrophy  (DOID:11726)
  • 2 papers in RGD have been used to annotate Emd
  • Curation Notes: ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy
  • Original References(s): PMID:10323252 PMID:10382909 PMID:10393813 PMID:10399752 PMID:10428430 PMID:10480214 PMID:11385714 PMID:1178008 PMID:15967842 PMID:16080119 PMID:17067998 PMID:17355552 PMID:17576681 PMID:18646565 PMID:19345147 PMID:1998333 PMID:20474083 PMID:21496632 PMID:21697856 PMID:23169761 PMID:23349452 PMID:23395478 PMID:23785128 PMID:24033266 PMID:24365856 PMID:24503780 PMID:25741868 PMID:26187847 PMID:26415001 PMID:26467025 PMID:26675233 PMID:26820365 PMID:26899768 PMID:28492532 PMID:29961767 PMID:31024910 PMID:31185657 PMID:31474437 PMID:32860008 PMID:34524739 PMID:7294729 PMID:7894480 PMID:8589715 PMID:8595406 PMID:8595407 PMID:8595433 PMID:8655156 PMID:9384614 PMID:9472006 PMID:9536090 PMID:9536098


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