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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Glb1 and GM1 gangliosidosis type 1 in Chinchilla lanigera.        

  • 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 GLB1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 RGD objects have been annotated to GM1 gangliosidosis type 1  (DOID:0080502)
  • 3 papers in RGD have been used to annotate Glb1


    • An association has been curated linking Glb1 and GM1 gangliosidosis type 1 in Chinchilla lanigera.        

  • 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 GLB1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 RGD objects have been annotated to GM1 gangliosidosis type 1  (DOID:0080502)
  • 3 papers in RGD have been used to annotate Glb1
  • Curation Notes: ClinVar Annotator: match by term: GM1-gangliosidosis, type I, with cardiac involvement | ClinVar Annotator: match by term: Infantile GM1 gangliosidosis
  • Original References(s): PMID:10338095 PMID:10737981 PMID:10839995 PMID:10841810 PMID:11504597 PMID:11511921 PMID:12644936 PMID:1353343 PMID:1487238 PMID:15365997 PMID:15714521 PMID:15906092 PMID:15943552 PMID:15986423 PMID:1606711 PMID:16199547 PMID:16314480 PMID:16538002 PMID:16617000 PMID:16626397 PMID:16674934 PMID:16941474 PMID:17221873 PMID:17309651 PMID:17576681 PMID:17664528 PMID:18524657 PMID:1907800 PMID:1909089 PMID:1928092 PMID:19472408 PMID:19644515 PMID:20175788 PMID:20920281 PMID:21497194 PMID:21520340 PMID:21637542 PMID:22128166 PMID:22234367 PMID:22371915 PMID:22675082 PMID:23151865 PMID:23337983 PMID:23430499 PMID:23430803 PMID:24033266 PMID:24156116 PMID:24767253 PMID:25326635 PMID:25443580 PMID:25557439 PMID:25600812 PMID:25741868 PMID:25936995 PMID:26169295 PMID:26646981 PMID:27619815 PMID:28332257 PMID:28492532 PMID:28554332 PMID:28716012 PMID:28976722 PMID:29160035 PMID:29439846 PMID:30138938 PMID:30267299 PMID:30408610 PMID:30548430 PMID:30809705 PMID:31761138 PMID:31776384 PMID:32219518 PMID:33737400 PMID:7586649 PMID:8068159 PMID:8112731 PMID:8198123 PMID:8199591 PMID:8213816 PMID:8500799 PMID:8652017 PMID:8922281 PMID:9203065 PMID:9536098 PMID:9781688


    • An association has been curated linking Glb1 and GM1 gangliosidosis type 1 in Chinchilla lanigera.        

  • 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 GLB1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 RGD objects have been annotated to GM1 gangliosidosis type 1  (DOID:0080502)
  • 3 papers in RGD have been used to annotate Glb1
  • Curation Notes: ClinVar Annotator: match by term: GM1 gangliosidosis type 1 | ClinVar Annotator: match by term: GM1-gangliosidosis, type I, with cardiac involvement | ClinVar Annotator: match by term: Gangliosidosis, Generalized GM1, Type 1 | ClinVar Annotator: match by term: Infantile GM1 gangliosidosis
  • Original References(s): PMID:10338095 PMID:10737981 PMID:10839995 PMID:10841810 PMID:11504597 PMID:11511921 PMID:12644936 PMID:1353343 PMID:1487238 PMID:15365997 PMID:15714521 PMID:15906092 PMID:15943552 PMID:15986423 PMID:1606711 PMID:16199547 PMID:16314480 PMID:16538002 PMID:16617000 PMID:16626397 PMID:16674934 PMID:16941474 PMID:17221873 PMID:17309651 PMID:17576681 PMID:17664528 PMID:18524657 PMID:18571950 PMID:1907800 PMID:1909089 PMID:1928092 PMID:19472408 PMID:19644515 PMID:20175788 PMID:20920281 PMID:21214877 PMID:21497194 PMID:21520340 PMID:21637542 PMID:22128166 PMID:22234367 PMID:22371915 PMID:22675082 PMID:23046582 PMID:23151865 PMID:23337983 PMID:23430499 PMID:23430803 PMID:24033266 PMID:24767253 PMID:25326635 PMID:25326637 PMID:25443580 PMID:25557439 PMID:25600812 PMID:25741868 PMID:25936995 PMID:26169295 PMID:26337817 PMID:26646981 PMID:26990548 PMID:27619815 PMID:27679996 PMID:28332257 PMID:28492532 PMID:28554332 PMID:28716012 PMID:28939701 PMID:28976722 PMID:29160035 PMID:29352662 PMID:29439846 PMID:30138938 PMID:30267299 PMID:30408610 PMID:30548430 PMID:30712135 PMID:30809705 PMID:31216405 PMID:31497487 PMID:31761138 PMID:31776384 PMID:32036093 PMID:32219518 PMID:33258288 PMID:33737400 PMID:34426522 PMID:36265282 PMID:37673932 PMID:6791574 PMID:7586649 PMID:8068159 PMID:8112731 PMID:8198123 PMID:8199591 PMID:8213816 PMID:8500799 PMID:8652017 PMID:8922281 PMID:9203065 PMID:9536098 PMID:9781688


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