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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Ap4m1 and hereditary spastic paraplegia 50 in Ictidomys tridecemlineatus.        

  • 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 AP4M1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to hereditary spastic paraplegia 50  (DOID:0110802)
  • 0 papers in RGD have been used to annotate Ap4m1


    • An association has been curated linking Ap4m1 and hereditary spastic paraplegia 50 in Ictidomys tridecemlineatus.        

  • 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 AP4M1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to hereditary spastic paraplegia 50  (DOID:0110802)
  • 0 papers in RGD have been used to annotate Ap4m1
  • Curation Notes: ClinVar Annotator: match by term: AP-4 deficiency syndrome | ClinVar Annotator: match by term: Hereditary spastic paraplegia 50
  • Original References(s): PMID:16199547 PMID:17576681 PMID:18414213 PMID:21937992 PMID:24700674 PMID:25326635 PMID:25496299 PMID:25558065 PMID:25741868 PMID:26077850 PMID:28464862 PMID:28492532 PMID:28832565 PMID:29096665 PMID:29302074 PMID:29473051 PMID:31230720 PMID:31359954 PMID:31915823 PMID:32979048 PMID:32989326 PMID:33001864 PMID:33813722 PMID:34087981 PMID:36371792 PMID:37486637 PMID:9536098


    • An association has been curated linking Ap4m1 and hereditary spastic paraplegia 50 in Ictidomys tridecemlineatus.        

  • 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 AP4M1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to hereditary spastic paraplegia 50  (DOID:0110802)
  • 0 papers in RGD have been used to annotate Ap4m1
  • Curation Notes: ClinVar Annotator: match by term: Hereditary spastic paraplegia 50
  • Original References(s): PMID:16199547 PMID:17576681 PMID:18414213 PMID:21937992 PMID:24700674 PMID:25326635 PMID:25496299 PMID:25558065 PMID:25741868 PMID:26077850 PMID:28464862 PMID:28492532 PMID:28832565 PMID:29096665 PMID:29302074 PMID:31230720 PMID:31359954 PMID:32979048 PMID:32989326 PMID:33001864 PMID:33813722 PMID:34087981 PMID:36371792 PMID:9536098


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