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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking SETX and spinocerebellar ataxia with axonal neuropathy 2 in Sus scrofa.        

  • 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 SETX (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to spinocerebellar ataxia with axonal neuropathy 2  (DOID:0050755)
  • 0 papers in RGD have been used to annotate SETX


    • An association has been curated linking SETX and spinocerebellar ataxia with axonal neuropathy 2 in Sus scrofa.        

  • 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 SETX (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to spinocerebellar ataxia with axonal neuropathy 2  (DOID:0050755)
  • 0 papers in RGD have been used to annotate SETX
  • Curation Notes: ClinVar Annotator: match by term: SETX-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • Original References(s): PMID:14770181 PMID:15106121 PMID:15732101 PMID:16644229 PMID:17096168 PMID:17159128 PMID:17576681 PMID:17720498 PMID:18058631 PMID:18414213 PMID:18625865 PMID:19377860 PMID:19569000 PMID:19696032 PMID:19744353 PMID:20540686 PMID:20981092 PMID:21190393 PMID:21438761 PMID:21576111 PMID:22088787 PMID:22995991 PMID:23129421 PMID:23566282 PMID:23757202 PMID:23806086 PMID:23881933 PMID:23941260 PMID:24033266 PMID:24088041 PMID:24105744 PMID:24244371 PMID:24760770 PMID:24814856 PMID:25025039 PMID:25116135 PMID:25174650 PMID:25182519 PMID:25299611 PMID:25326635 PMID:25353622 PMID:25382069 PMID:25525159 PMID:25741868 PMID:25802885 PMID:26257172 PMID:26467025 PMID:26601740 PMID:26633545 PMID:27013921 PMID:27165006 PMID:27790088 PMID:28130640 PMID:28245518 PMID:28492532 PMID:28642336 PMID:28708278 PMID:28832565 PMID:29170628 PMID:29411640 PMID:29482223 PMID:29650794 PMID:30198223 PMID:30220148 PMID:30564185 PMID:31325016 PMID:31429931 PMID:31589614 PMID:31692161 PMID:31957062 PMID:32028661 PMID:32166880 PMID:32253937 PMID:32397312 PMID:32409511 PMID:32729724 PMID:33098801 PMID:33770234 PMID:33956305 PMID:9467005 PMID:9497266 PMID:9536098


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