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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking GAMT and guanidinoacetate methyltransferase deficiency in Canis lupus familiaris.        

  • 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 GAMT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to guanidinoacetate methyltransferase deficiency  (DOID:0050799)
  • 0 papers in RGD have been used to annotate GAMT


    • An association has been curated linking GAMT and guanidinoacetate methyltransferase deficiency in Canis lupus familiaris.        

  • 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 GAMT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to guanidinoacetate methyltransferase deficiency  (DOID:0050799)
  • 0 papers in RGD have been used to annotate GAMT
  • Curation Notes: ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar Annotator: match by term: GAMT DEFICIENCY | ClinVar Annotator: match by term: GAMT-related condition
  • Original References(s): PMID:11136556 PMID:11978605 PMID:12324495 PMID:12468279 PMID:12557293 PMID:15108290 PMID:15651030 PMID:16054853 PMID:16169544 PMID:16199547 PMID:16293431 PMID:16855203 PMID:17101918 PMID:17171576 PMID:17336114 PMID:17576681 PMID:19027335 PMID:19288536 PMID:19388150 PMID:19892372 PMID:20301745 PMID:21140503 PMID:22019491 PMID:23031365 PMID:23234264 PMID:23583224 PMID:23660394 PMID:23846910 PMID:24071436 PMID:24268530 PMID:24276113 PMID:24415674 PMID:24440240 PMID:2476685 PMID:25741868 PMID:26003046 PMID:26319512 PMID:26467025 PMID:27233226 PMID:27650626 PMID:28055022 PMID:28438604 PMID:28492532 PMID:28758966 PMID:29506905 PMID:29655203 PMID:31069529 PMID:31130284 PMID:31222513 PMID:32214227 PMID:33996490 PMID:34015165 PMID:34324503 PMID:34389248 PMID:34738359 PMID:35588794 PMID:37305710 PMID:37808418 PMID:8651275 PMID:9386672 PMID:9536098


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