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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Aipl1 and Leber congenital amaurosis 4 in Heterocephalus glaber.        

  • 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 AIPL1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 RGD objects have been annotated to Leber congenital amaurosis 4  (DOID:0110332)
  • 0 papers in RGD have been used to annotate Aipl1


  • An association has been curated linking Aipl1 and Leber congenital amaurosis 4 in Heterocephalus glaber.        

  • 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 AIPL1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 RGD objects have been annotated to Leber congenital amaurosis 4  (DOID:0110332)
  • 0 papers in RGD have been used to annotate Aipl1
  • Curation Notes: ClinVar Annotator: match by term: AIPL1-Related Disorders | ClinVar Annotator: match by term: AIPL1-related condition | ClinVar Annotator: match by term: Leber congenital amaurosis 4
  • Original References(s): PMID:10615133 PMID:10873396 PMID:10927016 PMID:11139241 PMID:12573663 PMID:12881340 PMID:14555765 PMID:14611946 PMID:15024725 PMID:15249368 PMID:15347646 PMID:15469903 PMID:16052170 PMID:16123401 PMID:16199547 PMID:16205573 PMID:17576681 PMID:17724218 PMID:17964524 PMID:18055820 PMID:18408180 PMID:18682808 PMID:20079931 PMID:20301475 PMID:20683928 PMID:20702822 PMID:21474771 PMID:21900377 PMID:22347407 PMID:22412862 PMID:23418749 PMID:23737531 PMID:24093488 PMID:24426771 PMID:25148430 PMID:25356976 PMID:25596619 PMID:25741868 PMID:25799540 PMID:26047050 PMID:26306921 PMID:26626312 PMID:26650897 PMID:27268253 PMID:28041643 PMID:28492532 PMID:28739921 PMID:28973376 PMID:29068479 PMID:29178642 PMID:29641573 PMID:30029497 PMID:30576320 PMID:30718709 PMID:30910914 PMID:31054281 PMID:31360094 PMID:31630094 PMID:31703130 PMID:32483926 PMID:32531858 PMID:32817338 PMID:33067476 PMID:33623043 PMID:33938912 PMID:9536098


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