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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Kmt2d and Kabuki Syndrome 1 in Rattus norvegicus.        

  • 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 KMT2D (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 9 RGD objects have been annotated to Kabuki Syndrome 1  (DOID:9001255)
  • 33 papers in RGD have been used to annotate Kmt2d


    • An association has been curated linking Kmt2d and Kabuki Syndrome 1 in Rattus norvegicus.        

  • 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 KMT2D (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 9 RGD objects have been annotated to Kabuki Syndrome 1  (DOID:9001255)
  • 33 papers in RGD have been used to annotate Kmt2d
  • Curation Notes: ClinVar Annotator: match by term: KMT2D-related condition | ClinVar Annotator: match by term: Kabuki syndrome 1
  • Original References(s): PMID:16199547 PMID:17576681 PMID:18414213 PMID:19625956 PMID:20711175 PMID:2071175 PMID:21280141 PMID:21607748 PMID:21658225 PMID:21671394 PMID:21766738 PMID:22126750 PMID:22434255 PMID:22740433 PMID:22786791 PMID:23320472 PMID:23757202 PMID:23913813 PMID:24033266 PMID:24633898 PMID:24728327 PMID:24739679 PMID:24759409 PMID:25142838 PMID:25281733 PMID:25326635 PMID:25326637 PMID:25741868 PMID:25755104 PMID:25896430 PMID:25972376 PMID:26300940 PMID:26467025 PMID:26512256 PMID:26785492 PMID:26938784 PMID:27257180 PMID:27302555 PMID:27353043 PMID:27530205 PMID:27573763 PMID:27620904 PMID:28256057 PMID:28295206 PMID:28475860 PMID:28492532 PMID:28884922 PMID:28973083 PMID:29089047 PMID:29168297 PMID:29255178 PMID:29283410 PMID:29300383 PMID:29304373 PMID:29389947 PMID:29450879 PMID:29453417 PMID:29725259 PMID:30107592 PMID:30143558 PMID:30266093 PMID:30287924 PMID:30459467 PMID:30950893 PMID:31282990 PMID:31395954 PMID:31624253 PMID:31727177 PMID:31846209 PMID:31883305 PMID:31949313 PMID:32037394 PMID:32083401 PMID:32135276 PMID:32170002 PMID:32371413 PMID:32441320 PMID:32803813 PMID:34232366 PMID:35060672 PMID:35904121 PMID:36672956 PMID:3913813 PMID:9536098


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