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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking SLC2A1 and glucose transporter type 1 deficiency syndrome in Sus scrofa.        

  • 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 SLC2A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 13 RGD objects have been annotated to glucose transporter type 1 deficiency syndrome  (DOID:0070560)
  • 0 papers in RGD have been used to annotate SLC2A1
  • Curation Notes: ClinVar Annotator: match by term: GLUT1 deficiency syndrome | ClinVar Annotator: match by term: Glucose transport defect, blood-brain barrier | ClinVar Annotator: match by term: Glucose transporter protein syndrome | ClinVar Annotator: match by term: Glucose transporter type 1 deficiency syndrome
  • Original References(s): PMID:10980529 PMID:11477212 PMID:12325075 PMID:15622525 PMID:16217704 PMID:16949238 PMID:17052934 PMID:17576681 PMID:17718830 PMID:18403583 PMID:18414213 PMID:18451999 PMID:18614966 PMID:19630075 PMID:19798636 PMID:19996082 PMID:20129935 PMID:20221955 PMID:20417043 PMID:20630673 PMID:20687207 PMID:21069159 PMID:21135204 PMID:21546317 PMID:21555602 PMID:21832227 PMID:22011817 PMID:23106342 PMID:23280796 PMID:23306390 PMID:23340081 PMID:2344855 PMID:23448551 PMID:23740044 PMID:24215330 PMID:24847886 PMID:25108116 PMID:25326635 PMID:25487684 PMID:25564316 PMID:25741868 PMID:25914049 PMID:25982116 PMID:26193382 PMID:26216499 PMID:26467025 PMID:26537434 PMID:26598494 PMID:26982753 PMID:27843123 PMID:28102150 PMID:28116237 PMID:28492532 PMID:28717674 PMID:28961260 PMID:29655203 PMID:29930392 PMID:30076047 PMID:30588498 PMID:30714351 PMID:30895386 PMID:31069529 PMID:31196579 PMID:31737037 PMID:32404902 PMID:33015236 PMID:33240831 PMID:34135856 PMID:34279792 PMID:35571021 PMID:35586607 PMID:36153584 PMID:36362347 PMID:37293674 PMID:9536098


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