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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking SLC2A1 and Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly in Sus scrofa.        

  • 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 SLC2A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly  (DOID:9002035)
  • 0 papers in RGD have been used to annotate SLC2A1


    • An association has been curated linking SLC2A1 and Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly 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]
  • 1 RGD objects have been annotated to Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly  (DOID:9002035)
  • 0 papers in RGD have been used to annotate SLC2A1
  • Curation Notes: ClinVar Annotator: match by term: GLUT1 DEFICIENCY SYNDROME WITH PSEUDOHYPERKALEMIA AND HEMOLYSIS | ClinVar Annotator: match by term: Stomatin-deficient cryohydrocytosis with neurologic defects
  • Original References(s): PMID:10980529 PMID:11477212 PMID:12325075 PMID:15622525 PMID:16217704 PMID:16949238 PMID:17052934 PMID:17576681 PMID:17718830 PMID:18414213 PMID:19630075 PMID:19798636 PMID:20129935 PMID:20417043 PMID:21069159 PMID:21135204 PMID:21546317 PMID:21555602 PMID:21832227 PMID:22011817 PMID:23106342 PMID:23280796 PMID:23340081 PMID:23448551 PMID:24215330 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:28102150 PMID:28116237 PMID:28492532 PMID:28961260 PMID:30588498 PMID:30895386 PMID:31069529 PMID:31737037 PMID:35586607 PMID:9536098


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