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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Cacna1a and developmental and epileptic encephalopathy 42 in Chinchilla lanigera.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with CACNA1A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 42  (DOID:0080454)
  • 3 papers in RGD have been used to annotate Cacna1a


    • An association has been curated linking Cacna1a and developmental and epileptic encephalopathy 42 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 CACNA1A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 42  (DOID:0080454)
  • 3 papers in RGD have been used to annotate Cacna1a
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42
  • Original References(s): PMID:10024348 PMID:10371528 PMID:10408532 PMID:10408533 PMID:10455105 PMID:10987655 PMID:11409427 PMID:11439943 PMID:11814735 PMID:11971066 PMID:12056940 PMID:12420090 PMID:12756131 PMID:14718690 PMID:15136697 PMID:15173248 PMID:15240985 PMID:15452324 PMID:15743764 PMID:15795222 PMID:16043807 PMID:16199547 PMID:16325861 PMID:16508934 PMID:16787562 PMID:17292920 PMID:17576681 PMID:17588611 PMID:18279427 PMID:18313928 PMID:18354422 PMID:18437043 PMID:18513263 PMID:18581134 PMID:18597946 PMID:18606230 PMID:19486177 PMID:19520699 PMID:19811514 PMID:20080591 PMID:20097664 PMID:20129625 PMID:20156848 PMID:20301562 PMID:20301674 PMID:20396531 PMID:20682717 PMID:20837964 PMID:21183743 PMID:21734179 PMID:22000314 PMID:22190617 PMID:22249839 PMID:22784462 PMID:22969264 PMID:23103419 PMID:23183922 PMID:23831250 PMID:23934111 PMID:24033266 PMID:24091540 PMID:24108129 PMID:24270521 PMID:24486772 PMID:24498617 PMID:24996492 PMID:25266619 PMID:25274239 PMID:25326635 PMID:25356970 PMID:25481746 PMID:25596066 PMID:25735478 PMID:25741868 PMID:25758715 PMID:25851414 PMID:26423924 PMID:26467025 PMID:26716990 PMID:26814174 PMID:26912519 PMID:27066515 PMID:27165006 PMID:27250579 PMID:27400454 PMID:27476654 PMID:27959697 PMID:28007337 PMID:28169007 PMID:28252636 PMID:28444220 PMID:28455667 PMID:28492532 PMID:28540055 PMID:28566750 PMID:28742085 PMID:28856914 PMID:29056246 PMID:29100083 PMID:29186148 PMID:29276004 PMID:29486580 PMID:29713557 PMID:29758562 PMID:29852413 PMID:29908077 PMID:29915382 PMID:29926469 PMID:29997391 PMID:30011838 PMID:30063100 PMID:30142438 PMID:30167989 PMID:30283815 PMID:30852237 PMID:31015257 PMID:31115040 PMID:31139143 PMID:31440721 PMID:31447099 PMID:31468518 PMID:31487502 PMID:31506931 PMID:31618753 PMID:31692161 PMID:31719132 PMID:31824404 PMID:32116539 PMID:32170034 PMID:32238909 PMID:32581362 PMID:32860008 PMID:32901917 PMID:32910250 PMID:33098801 PMID:33144682 PMID:33163565 PMID:33278787 PMID:33349592 PMID:33425808 PMID:33790770 PMID:34102571 PMID:34356170 PMID:34531397 PMID:35217970 PMID:35401678 PMID:35600082 PMID:35837781 PMID:36530930 PMID:8898206 PMID:9329229 PMID:9488686 PMID:9536098 PMID:97053792 PMID:9915947


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