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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking IGHMBP2 and Charcot-Marie-Tooth disease in Pan paniscus.        

  • 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 IGHMBP2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 667 RGD objects have been annotated to Charcot-Marie-Tooth disease  (DOID:10595)
  • 0 papers in RGD have been used to annotate IGHMBP2
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy
  • Original References(s): PMID:11528396 PMID:14506069 PMID:14681881 PMID:15108294 PMID:15599641 PMID:15797190 PMID:16964485 PMID:17431882 PMID:17576681 PMID:18802676 PMID:19157874 PMID:20031928 PMID:20859832 PMID:21353777 PMID:22157136 PMID:22791546 PMID:23449687 PMID:23566544 PMID:23806086 PMID:24022109 PMID:24033266 PMID:24088041 PMID:25326635 PMID:25439726 PMID:25568292 PMID:25741868 PMID:26136520 PMID:26257172 PMID:26392352 PMID:26467025 PMID:28492532 PMID:29761130 PMID:30598237 PMID:30863264 PMID:32376792 PMID:32573669 PMID:33258288 PMID:9536098


    • An association has been curated linking IGHMBP2 and Charcot-Marie-Tooth disease in Pan paniscus.        

  • 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 IGHMBP2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 667 RGD objects have been annotated to Charcot-Marie-Tooth disease  (DOID:10595)
  • 0 papers in RGD have been used to annotate IGHMBP2
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
  • Original References(s): PMID:11528396 PMID:14506069 PMID:14681881 PMID:15108294 PMID:15599641 PMID:15797190 PMID:16964485 PMID:17431882 PMID:17576681 PMID:18802676 PMID:19157874 PMID:19158098 PMID:20031928 PMID:20859832 PMID:21353777 PMID:22157136 PMID:22791546 PMID:23449687 PMID:23566544 PMID:23806086 PMID:24022109 PMID:24033266 PMID:24088041 PMID:25326635 PMID:25439726 PMID:25473036 PMID:25568292 PMID:25741868 PMID:25741915 PMID:26136520 PMID:26257172 PMID:26392352 PMID:26467025 PMID:26709713 PMID:26922252 PMID:27727376 PMID:28251916 PMID:28492532 PMID:28765793 PMID:29761130 PMID:29858556 PMID:30598237 PMID:30863264 PMID:32376792 PMID:32573669 PMID:32709422 PMID:33258288 PMID:9536098


    • An association has been curated linking IGHMBP2 and Charcot-Marie-Tooth disease in Pan paniscus.        

  • 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 IGHMBP2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 667 RGD objects have been annotated to Charcot-Marie-Tooth disease  (DOID:10595)
  • 0 papers in RGD have been used to annotate IGHMBP2
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
  • Original References(s): PMID:11528396 PMID:14506069 PMID:14681881 PMID:15108294 PMID:15599641 PMID:15797190 PMID:16964485 PMID:17431882 PMID:17576681 PMID:18802676 PMID:19157874 PMID:20031928 PMID:20859832 PMID:21353777 PMID:22157136 PMID:22791546 PMID:23449687 PMID:23566544 PMID:23806086 PMID:24022109 PMID:24033266 PMID:24088041 PMID:25326635 PMID:25439726 PMID:25568292 PMID:25741868 PMID:26136520 PMID:26257172 PMID:26392352 PMID:26467025 PMID:26709713 PMID:27727376 PMID:28251916 PMID:28492532 PMID:28765793 PMID:29761130 PMID:30598237 PMID:30863264 PMID:32376792 PMID:32573669 PMID:33258288 PMID:9536098


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