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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Alpk1 and Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome 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 ALPK1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome  (DOID:9005477)
  • 4 papers in RGD have been used to annotate Alpk1


  • An association has been curated linking Alpk1 and Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome 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 ALPK1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome  (DOID:9005477)
  • 4 papers in RGD have been used to annotate Alpk1
  • Curation Notes: ClinVar Annotator: match by term: ALPK1-related condition | ClinVar Annotator: match by term: Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome
  • Original References(s): PMID:25741868 PMID:28492532 PMID:30967659 PMID:31053777 PMID:31939038 PMID:35868845


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