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GENE - TERM ANNOTATION REPORT

11 Annotations Found.

An association has been curated linking PYCR2 and hypomyelinating leukodystrophy 10 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 1 RGD objects have been annotated to hypomyelinating leukodystrophy 10  (DOID:0060788)
  • 5 papers in RGD have been used to annotate PYCR2


    • An association has been curated linking PYCR2 and hypomyelinating leukodystrophy 10 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:21068745 (Homo sapiens)
  • 1 RGD objects have been annotated to hypomyelinating leukodystrophy 10  (DOID:0060788)
  • 5 papers in RGD have been used to annotate PYCR2
  • Curation Notes: ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 10


    • An association has been curated linking PYCR2 and hypomyelinating leukodystrophy 10 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:11542146 (Homo sapiens)
  • 1 RGD objects have been annotated to hypomyelinating leukodystrophy 10  (DOID:0060788)
  • 5 papers in RGD have been used to annotate PYCR2
  • Curation Notes: ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 10
  • Original References(s): PMID:25741868 PMID:27130255 PMID:27860360 PMID:28492532


    • An association has been curated linking PYCR2 and hypomyelinating leukodystrophy 10 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:151748774 (Homo sapiens)
  • 1 RGD objects have been annotated to hypomyelinating leukodystrophy 10  (DOID:0060788)
  • 5 papers in RGD have been used to annotate PYCR2
  • Curation Notes: ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 10
  • Original References(s): PMID:25741868 PMID:25865492 PMID:27860360 PMID:28492532


    • An association has been curated linking PYCR2 and hypomyelinating leukodystrophy 10 in Homo sapiens.        

  • The association was inferred from experiment (EXP)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • 1 RGD objects have been annotated to hypomyelinating leukodystrophy 10  (DOID:0060788)
  • 5 papers in RGD have been used to annotate PYCR2
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking PYCR2 and hypomyelinating leukodystrophy 10 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:11542149|RGD:11542151 (Homo sapiens) & RGD:11542149|RGD:11542151 (Homo sapiens)
  • 1 RGD objects have been annotated to hypomyelinating leukodystrophy 10  (DOID:0060788)
  • 5 papers in RGD have been used to annotate PYCR2
  • Curation Notes: ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 10
  • Original References(s): PMID:25741868 PMID:27130255


    • An association has been curated linking PYCR2 and hypomyelinating leukodystrophy 10 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:11542147 (Homo sapiens)
  • 1 RGD objects have been annotated to hypomyelinating leukodystrophy 10  (DOID:0060788)
  • 5 papers in RGD have been used to annotate PYCR2
  • Curation Notes: ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 10
  • Original References(s): PMID:27130255


    • An association has been curated linking PYCR2 and hypomyelinating leukodystrophy 10 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:401964144 (Homo sapiens)
  • 1 RGD objects have been annotated to hypomyelinating leukodystrophy 10  (DOID:0060788)
  • 5 papers in RGD have been used to annotate PYCR2
  • Curation Notes: ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 10
  • Original References(s): PMID:27860360


    • An association has been curated linking PYCR2 and hypomyelinating leukodystrophy 10 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:127303797|RGD:127308699|RGD:15168361|RGD:156155125 (Homo sapiens) & RGD:127303797|RGD:127308699|RGD:15168361|RGD:156155125 (Homo sapiens) & RGD:127303797|RGD:127308699|RGD:15168361|RGD:156155125 (Homo sapiens) & RGD:127303797|RGD:127308699|RGD:15168361|RGD:156155125 (Homo sapiens)
  • 1 RGD objects have been annotated to hypomyelinating leukodystrophy 10  (DOID:0060788)
  • 5 papers in RGD have been used to annotate PYCR2
  • Curation Notes: ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 10
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking PYCR2 and hypomyelinating leukodystrophy 10 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:10047446|RGD:10047447 (Homo sapiens) & RGD:10047446|RGD:10047447 (Homo sapiens)
  • 1 RGD objects have been annotated to hypomyelinating leukodystrophy 10  (DOID:0060788)
  • 5 papers in RGD have been used to annotate PYCR2
  • Curation Notes: ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 10
  • Original References(s): PMID:25865492


    • An association has been curated linking PYCR2 and hypomyelinating leukodystrophy 10 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:126731364|RGD:126734841|RGD:126734844|RGD:12912768|RGD:13214559|RGD:150415081|RGD:150544783|RGD:150546545|RGD:243051612|RGD:404999798|RGD:40886444|RGD:40886445|RGD:41408142 (Homo sapiens) & RGD:126731364|RGD:126734841|RGD:126734844|RGD:12912768|RGD:13214559|RGD:150415081|RGD:150544783|RGD:150546545|RGD:243051612|RGD:404999798|RGD:40886444|RGD:40886445|RGD:41408142 (Homo sapiens) & RGD:126731364|RGD:126734841|RGD:126734844|RGD:12912768|RGD:13214559|RGD:150415081|RGD:150544783|RGD:150546545|RGD:243051612|RGD:404999798|RGD:40886444|RGD:40886445|RGD:41408142 (Homo sapiens) & RGD:126731364|RGD:126734841|RGD:126734844|RGD:12912768|RGD:13214559|RGD:150415081|RGD:150544783|RGD:150546545|RGD:243051612|RGD:404999798|RGD:40886444|RGD:40886445|RGD:41408142 (Homo sapiens) & RGD:126731364|RGD:126734841|RGD:126734844|RGD:12912768|RGD:13214559|RGD:150415081|RGD:150544783|RGD:150546545|RGD:243051612|RGD:404999798|RGD:40886444|RGD:40886445|RGD:41408142 (Homo sapiens) & RGD:126731364|RGD:126734841|RGD:126734844|RGD:12912768|RGD:13214559|RGD:150415081|RGD:150544783|RGD:150546545|RGD:243051612|RGD:404999798|RGD:40886444|RGD:40886445|RGD:41408142 (Homo sapiens) & RGD:126731364|RGD:126734841|RGD:126734844|RGD:12912768|RGD:13214559|RGD:150415081|RGD:150544783|RGD:150546545|RGD:243051612|RGD:404999798|RGD:40886444|RGD:40886445|RGD:41408142 (Homo sapiens) & RGD:126731364|RGD:126734841|RGD:126734844|RGD:12912768|RGD:13214559|RGD:150415081|RGD:150544783|RGD:150546545|RGD:243051612|RGD:404999798|RGD:40886444|RGD:40886445|RGD:41408142 (Homo sapiens) & RGD:126731364|RGD:126734841|RGD:126734844|RGD:12912768|RGD:13214559|RGD:150415081|RGD:150544783|RGD:150546545|RGD:243051612|RGD:404999798|RGD:40886444|RGD:40886445|RGD:41408142 (Homo sapiens) & RGD:126731364|RGD:126734841|RGD:126734844|RGD:12912768|RGD:13214559|RGD:150415081|RGD:150544783|RGD:150546545|RGD:243051612|RGD:404999798|RGD:40886444|RGD:40886445|RGD:41408142 (Homo sapiens) & RGD:126731364|RGD:126734841|RGD:126734844|RGD:12912768|RGD:13214559|RGD:150415081|RGD:150544783|RGD:150546545|RGD:243051612|RGD:404999798|RGD:40886444|RGD:40886445|RGD:41408142 (Homo sapiens) & RGD:126731364|RGD:126734841|RGD:126734844|RGD:12912768|RGD:13214559|RGD:150415081|RGD:150544783|RGD:150546545|RGD:243051612|RGD:404999798|RGD:40886444|RGD:40886445|RGD:41408142 (Homo sapiens) & RGD:126731364|RGD:126734841|RGD:126734844|RGD:12912768|RGD:13214559|RGD:150415081|RGD:150544783|RGD:150546545|RGD:243051612|RGD:404999798|RGD:40886444|RGD:40886445|RGD:41408142 (Homo sapiens)
  • 1 RGD objects have been annotated to hypomyelinating leukodystrophy 10  (DOID:0060788)
  • 5 papers in RGD have been used to annotate PYCR2
  • Curation Notes: ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 10
  • Original References(s): PMID:25741868


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