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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Kcnq2 and developmental and epileptic encephalopathy 11 in Heterocephalus glaber.        

  • 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 KCNQ2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 27 RGD objects have been annotated to developmental and epileptic encephalopathy 11  (DOID:0080421)
  • 0 papers in RGD have been used to annotate Kcnq2
  • Curation Notes: ClinVar Annotator: match by term: Complex neurodevelopmental disorder
  • Original References(s): PMID:11175290 PMID:11572947 PMID:11784811 PMID:12754513 PMID:14534157 PMID:14985406 PMID:16039833 PMID:17129708 PMID:17475800 PMID:17872363 PMID:18414213 PMID:18483067 PMID:18515377 PMID:19344764 PMID:19380078 PMID:19453707 PMID:20437616 PMID:21685056 PMID:22169383 PMID:22275249 PMID:22455920 PMID:23360469 PMID:23621294 PMID:23692823 PMID:23708187 PMID:23934111 PMID:24107868 PMID:24318194 PMID:24371303 PMID:24375629 PMID:24463883 PMID:24586341 PMID:24759409 PMID:25052858 PMID:25262651 PMID:25326635 PMID:25326637 PMID:25533962 PMID:25590979 PMID:25740509 PMID:25741868 PMID:25880994 PMID:25959266 PMID:25982755 PMID:26007637 PMID:26138355 PMID:26446091 PMID:26467025 PMID:26704558 PMID:26993267 PMID:27535030 PMID:27602407 PMID:27779742 PMID:27861786 PMID:27864847 PMID:27905566 PMID:28133863 PMID:28139826 PMID:28283543 PMID:28399683 PMID:28492532 PMID:28628100 PMID:28687180 PMID:28717674 PMID:28733343 PMID:28867141 PMID:28973083 PMID:29056246 PMID:29186148 PMID:29190809 PMID:29215089 PMID:29263209 PMID:29390993 PMID:29455050 PMID:29588952 PMID:29644095 PMID:29655203 PMID:29720203 PMID:29760947 PMID:29852413 PMID:30109124 PMID:30126342 PMID:30478917 PMID:31019026 PMID:31152295 PMID:31199083 PMID:31780880 PMID:31832524 PMID:32139178 PMID:32184343 PMID:32573669 PMID:32581362 PMID:32712949 PMID:32860008 PMID:32917465 PMID:33754465 PMID:34055682 PMID:34120799 PMID:34711204 PMID:35104249 PMID:35906921 PMID:4055306 PMID:9425895 PMID:9872318


    • An association has been curated linking Kcnq2 and developmental and epileptic encephalopathy 11 in Heterocephalus glaber.        

  • 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 KCNQ2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 27 RGD objects have been annotated to developmental and epileptic encephalopathy 11  (DOID:0080421)
  • 0 papers in RGD have been used to annotate Kcnq2
  • Curation Notes: ClinVar Annotator: match by term: Complex neurodevelopmental disorder
  • Original References(s): PMID:11175290 PMID:11572947 PMID:11784811 PMID:12754513 PMID:14534157 PMID:14985406 PMID:16039833 PMID:17129708 PMID:17475800 PMID:17872363 PMID:18414213 PMID:18483067 PMID:18515377 PMID:19344764 PMID:19380078 PMID:19453707 PMID:20437616 PMID:21685056 PMID:21937445 PMID:22169383 PMID:22275249 PMID:22455920 PMID:23360469 PMID:23621294 PMID:23692823 PMID:23708187 PMID:23934111 PMID:24107868 PMID:24318194 PMID:24371303 PMID:24375629 PMID:24463883 PMID:24586341 PMID:24759409 PMID:25052858 PMID:25262651 PMID:25326635 PMID:25326637 PMID:25533962 PMID:25590979 PMID:25740509 PMID:25741868 PMID:25818041 PMID:25880994 PMID:25959266 PMID:25982755 PMID:26007637 PMID:26138355 PMID:26446091 PMID:26467025 PMID:26704558 PMID:26993267 PMID:2753503 PMID:27535030 PMID:27602407 PMID:27779742 PMID:27861786 PMID:27864847 PMID:27905566 PMID:28133863 PMID:28139826 PMID:28283543 PMID:28399683 PMID:28492532 PMID:28628100 PMID:28687180 PMID:28717674 PMID:28733343 PMID:28867141 PMID:28973083 PMID:29056246 PMID:29186148 PMID:29190809 PMID:29215089 PMID:29263209 PMID:29390993 PMID:29455050 PMID:29588952 PMID:29644095 PMID:29655203 PMID:29720203 PMID:29760947 PMID:29852413 PMID:30109124 PMID:30126342 PMID:30478917 PMID:30776697 PMID:31019026 PMID:31152295 PMID:31199083 PMID:31418850 PMID:31780880 PMID:31832524 PMID:32139178 PMID:32184343 PMID:32573669 PMID:32581362 PMID:32712949 PMID:32860008 PMID:32917465 PMID:33336127 PMID:33754465 PMID:34055682 PMID:34120799 PMID:34711204 PMID:35104249 PMID:35642783 PMID:35906921 PMID:4055306 PMID:9425895 PMID:9872318


    • An association has been curated linking Kcnq2 and developmental and epileptic encephalopathy 11 in Heterocephalus glaber.        

  • 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 KCNQ2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 27 RGD objects have been annotated to developmental and epileptic encephalopathy 11  (DOID:0080421)
  • 0 papers in RGD have been used to annotate Kcnq2
  • Curation Notes: ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11
  • Original References(s): PMID:11175290 PMID:11572947 PMID:11784811 PMID:12754513 PMID:14534157 PMID:14985406 PMID:16039833 PMID:17129708 PMID:17475800 PMID:17872363 PMID:18414213 PMID:18483067 PMID:18515377 PMID:19344764 PMID:19380078 PMID:19453707 PMID:20437616 PMID:21685056 PMID:22169383 PMID:22275249 PMID:22455920 PMID:23360469 PMID:23621294 PMID:23692823 PMID:23708187 PMID:23934111 PMID:24107868 PMID:24318194 PMID:24371303 PMID:24375629 PMID:24463883 PMID:24586341 PMID:24759409 PMID:25052858 PMID:25262651 PMID:25326635 PMID:25326637 PMID:25533962 PMID:25590979 PMID:25740509 PMID:25741868 PMID:25818041 PMID:25880994 PMID:25959266 PMID:25982755 PMID:26007637 PMID:26138355 PMID:26446091 PMID:26467025 PMID:26704558 PMID:26993267 PMID:27535030 PMID:27602407 PMID:27779742 PMID:27861786 PMID:27864847 PMID:27905566 PMID:28133863 PMID:28139826 PMID:28283543 PMID:28399683 PMID:28492532 PMID:28628100 PMID:28687180 PMID:28717674 PMID:28733343 PMID:28867141 PMID:28973083 PMID:29056246 PMID:29186148 PMID:29190809 PMID:29215089 PMID:29263209 PMID:29390993 PMID:29455050 PMID:29588952 PMID:29644095 PMID:29655203 PMID:29720203 PMID:29760947 PMID:29852413 PMID:30109124 PMID:30126342 PMID:30478917 PMID:31019026 PMID:31152295 PMID:31199083 PMID:31780880 PMID:31832524 PMID:32139178 PMID:32184343 PMID:32573669 PMID:32581362 PMID:32712949 PMID:32860008 PMID:32917465 PMID:33754465 PMID:34055682 PMID:34120799 PMID:34711204 PMID:35104249 PMID:35906921 PMID:4055306 PMID:9425895 PMID:9872318


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