Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking SLC33A1 and Congenital Cataracts, Hearing Loss, and Neurodegeneration 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 SLC33A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Congenital Cataracts, Hearing Loss, and Neurodegeneration  (DOID:9005895)
  • 0 papers in RGD have been used to annotate SLC33A1


  • An association has been curated linking SLC33A1 and Congenital Cataracts, Hearing Loss, and Neurodegeneration 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 SLC33A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Congenital Cataracts, Hearing Loss, and Neurodegeneration  (DOID:9005895)
  • 0 papers in RGD have been used to annotate SLC33A1
  • Curation Notes: ClinVar Annotator: match by term: Huppke-Brendel syndrome | ClinVar Annotator: match by term: SLC33A1-related condition
  • Original References(s): PMID:15902551 PMID:22243965 PMID:22508683 PMID:24215330 PMID:25741868 PMID:26467025 PMID:27306358 PMID:28492532 PMID:29908077 PMID:31194315 PMID:35999711


  • Go Back to source page   Continue to Ontology report