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GENE - TERM ANNOTATION REPORT

35 Annotations Found.

An association has been curated linking Col4a1 and COL4A1-related familial vascular leukoencephalopathy in Rattus norvegicus.        

  • 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 COL4A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to COL4A1-related familial vascular leukoencephalopathy  (DOID:0090125)
  • 17 papers in RGD have been used to annotate Col4a1
  • Curation Notes: ClinVar Annotator: match by OMIM:607595
  • Original References(s): PMID:16598045 PMID:17938367 PMID:22102590


  • An association has been curated linking Col4a1 and COL4A1-related familial vascular leukoencephalopathy in Rattus norvegicus.        

  • 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 COL4A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to COL4A1-related familial vascular leukoencephalopathy  (DOID:0090125)
  • 17 papers in RGD have been used to annotate Col4a1
  • Curation Notes: ClinVar Annotator: match by OMIM:607595
  • Original References(s): PMID:24088041 PMID:26633545


  • An association has been curated linking Col4a1 and COL4A1-related familial vascular leukoencephalopathy in Rattus norvegicus.        

  • 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 COL4A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to COL4A1-related familial vascular leukoencephalopathy  (DOID:0090125)
  • 17 papers in RGD have been used to annotate Col4a1
  • Curation Notes: ClinVar Annotator: match by OMIM:607595
  • Original References(s): PMID:23065703


  • An association has been curated linking Col4a1 and COL4A1-related familial vascular leukoencephalopathy in Rattus norvegicus.        

  • 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 COL4A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to COL4A1-related familial vascular leukoencephalopathy  (DOID:0090125)
  • 17 papers in RGD have been used to annotate Col4a1
  • Curation Notes: ClinVar Annotator: match by OMIM:607595
  • Original References(s): PMID:23394911 PMID:7257746


  • An association has been curated linking Col4a1 and COL4A1-related familial vascular leukoencephalopathy in Rattus norvegicus.        

  • 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 COL4A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to COL4A1-related familial vascular leukoencephalopathy  (DOID:0090125)
  • 17 papers in RGD have been used to annotate Col4a1
  • Curation Notes: ClinVar Annotator: match by OMIM:607595


  • An association has been curated linking Col4a1 and COL4A1-related familial vascular leukoencephalopathy in Rattus norvegicus.        

  • 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 COL4A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to COL4A1-related familial vascular leukoencephalopathy  (DOID:0090125)
  • 17 papers in RGD have been used to annotate Col4a1
  • Curation Notes: ClinVar Annotator: match by OMIM:607595
  • Original References(s): PMID:17696175


  • An association has been curated linking Col4a1 and COL4A1-related familial vascular leukoencephalopathy in Rattus norvegicus.        

  • 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 COL4A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to COL4A1-related familial vascular leukoencephalopathy  (DOID:0090125)
  • 17 papers in RGD have been used to annotate Col4a1
  • Curation Notes: ClinVar Annotator: match by OMIM:607595
  • Original References(s): PMID:16598045


  • An association has been curated linking Col4a1 and COL4A1-related familial vascular leukoencephalopathy in Rattus norvegicus.        

  • 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 COL4A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to COL4A1-related familial vascular leukoencephalopathy  (DOID:0090125)
  • 17 papers in RGD have been used to annotate Col4a1
  • Curation Notes: ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage
  • Original References(s): PMID:18077766 PMID:25741868 PMID:26467025


  • An association has been curated linking Col4a1 and COL4A1-related familial vascular leukoencephalopathy in Rattus norvegicus.        

  • 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 COL4A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to COL4A1-related familial vascular leukoencephalopathy  (DOID:0090125)
  • 17 papers in RGD have been used to annotate Col4a1
  • Curation Notes: ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage
  • Original References(s): PMID:21527998 PMID:25741868 PMID:26467025


  • An association has been curated linking Col4a1 and COL4A1-related familial vascular leukoencephalopathy in Rattus norvegicus.        

  • 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 COL4A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to COL4A1-related familial vascular leukoencephalopathy  (DOID:0090125)
  • 17 papers in RGD have been used to annotate Col4a1
  • Curation Notes: ClinVar Annotator: match by OMIM:607595
  • Original References(s): PMID:19194877


  • An association has been curated linking Col4a1 and COL4A1-related familial vascular leukoencephalopathy in Rattus norvegicus.        

  • 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 COL4A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to COL4A1-related familial vascular leukoencephalopathy  (DOID:0090125)
  • 17 papers in RGD have been used to annotate Col4a1
  • Curation Notes: ClinVar Annotator: match by OMIM:607595
  • Original References(s): PMID:19194877 PMID:22574627


  • An association has been curated linking Col4a1 and COL4A1-related familial vascular leukoencephalopathy in Rattus norvegicus.        

  • 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 COL4A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to COL4A1-related familial vascular leukoencephalopathy  (DOID:0090125)
  • 17 papers in RGD have been used to annotate Col4a1
  • Curation Notes: ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage
  • Original References(s): PMID:25741868


  • An association has been curated linking Col4a1 and COL4A1-related familial vascular leukoencephalopathy in Rattus norvegicus.        

  • 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 COL4A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to COL4A1-related familial vascular leukoencephalopathy  (DOID:0090125)
  • 17 papers in RGD have been used to annotate Col4a1
  • Curation Notes: ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage
  • Original References(s): PMID:25741868 PMID:26467025


  • An association has been curated linking Col4a1 and COL4A1-related familial vascular leukoencephalopathy in Rattus norvegicus.        

  • 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 COL4A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to COL4A1-related familial vascular leukoencephalopathy  (DOID:0090125)
  • 17 papers in RGD have been used to annotate Col4a1


  • An association has been curated linking Col4a1 and COL4A1-related familial vascular leukoencephalopathy in Rattus norvegicus.        

  • 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 COL4A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to COL4A1-related familial vascular leukoencephalopathy  (DOID:0090125)
  • 17 papers in RGD have been used to annotate Col4a1
  • Curation Notes: ClinVar Annotator: match by term: Porencephaly 1
  • Original References(s): PMID:28017902


  • An association has been curated linking Col4a1 and COL4A1-related familial vascular leukoencephalopathy in Rattus norvegicus.        

  • 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 COL4A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to COL4A1-related familial vascular leukoencephalopathy  (DOID:0090125)
  • 17 papers in RGD have been used to annotate Col4a1
  • Curation Notes: ClinVar Annotator: match by term: Porencephaly 1
  • Original References(s): PMID:25326635 PMID:25741868


  • An association has been curated linking Col4a1 and COL4A1-related familial vascular leukoencephalopathy in Rattus norvegicus.        

  • 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 COL4A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to COL4A1-related familial vascular leukoencephalopathy  (DOID:0090125)
  • 17 papers in RGD have been used to annotate Col4a1
  • Curation Notes: ClinVar Annotator: match by term: Porencephaly 1
  • Original References(s): PMID:23225343


  • An association has been curated linking Col4a1 and COL4A1-related familial vascular leukoencephalopathy in Rattus norvegicus.        

  • 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 COL4A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to COL4A1-related familial vascular leukoencephalopathy  (DOID:0090125)
  • 17 papers in RGD have been used to annotate Col4a1
  • Curation Notes: ClinVar Annotator: match by term: Porencephaly 1
  • Original References(s): PMID:24628545


  • An association has been curated linking Col4a1 and COL4A1-related familial vascular leukoencephalopathy in Rattus norvegicus.        

  • 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 COL4A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to COL4A1-related familial vascular leukoencephalopathy  (DOID:0090125)
  • 17 papers in RGD have been used to annotate Col4a1
  • Curation Notes: ClinVar Annotator: match by term: Porencephaly 1
  • Original References(s): PMID:15136694 PMID:15905400


  • An association has been curated linking Col4a1 and COL4A1-related familial vascular leukoencephalopathy in Rattus norvegicus.        

  • 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 COL4A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to COL4A1-related familial vascular leukoencephalopathy  (DOID:0090125)
  • 17 papers in RGD have been used to annotate Col4a1
  • Curation Notes: ClinVar Annotator: match by term: Porencephaly 1
  • Original References(s): PMID:15023374 PMID:16107487


  • An association has been curated linking Col4a1 and COL4A1-related familial vascular leukoencephalopathy in Rattus norvegicus.        

  • 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 COL4A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to COL4A1-related familial vascular leukoencephalopathy  (DOID:0090125)
  • 17 papers in RGD have been used to annotate Col4a1
  • Curation Notes: ClinVar Annotator: match by term: Porencephaly 1
  • Original References(s): PMID:15905400 PMID:6428250


  • An association has been curated linking Col4a1 and COL4A1-related familial vascular leukoencephalopathy in Rattus norvegicus.        

  • 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 COL4A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to COL4A1-related familial vascular leukoencephalopathy  (DOID:0090125)
  • 17 papers in RGD have been used to annotate Col4a1
  • Curation Notes: ClinVar Annotator: match by term: Porencephaly 1
  • Original References(s): PMID:16107487


  • An association has been curated linking Col4a1 and COL4A1-related familial vascular leukoencephalopathy in Rattus norvegicus.        

  • 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 COL4A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to COL4A1-related familial vascular leukoencephalopathy  (DOID:0090125)
  • 17 papers in RGD have been used to annotate Col4a1
  • Curation Notes: ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage
  • Original References(s): PMID:19477666 PMID:20385946 PMID:20733150 PMID:22522439 PMID:22574627 PMID:26467025


  • An association has been curated linking Col4a1 and COL4A1-related familial vascular leukoencephalopathy in Rattus norvegicus.        

  • 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 COL4A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to COL4A1-related familial vascular leukoencephalopathy  (DOID:0090125)
  • 17 papers in RGD have been used to annotate Col4a1
  • Curation Notes: ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY WITH AXENFELD-RIEGER ANOMALY
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking Col4a1 and COL4A1-related familial vascular leukoencephalopathy in Rattus norvegicus.        

  • 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 COL4A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to COL4A1-related familial vascular leukoencephalopathy  (DOID:0090125)
  • 17 papers in RGD have been used to annotate Col4a1
  • Curation Notes: ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY WITH AXENFELD-RIEGER ANOMALY
  • Original References(s): PMID:28492532


  • An association has been curated linking Col4a1 and COL4A1-related familial vascular leukoencephalopathy in Rattus norvegicus.        

  • 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 COL4A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to COL4A1-related familial vascular leukoencephalopathy  (DOID:0090125)
  • 17 papers in RGD have been used to annotate Col4a1
  • Curation Notes: ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY WITH AXENFELD-RIEGER ANOMALY
  • Original References(s): PMID:26467025 PMID:28492532


  • An association has been curated linking Col4a1 and COL4A1-related familial vascular leukoencephalopathy in Rattus norvegicus.        

  • 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 COL4A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to COL4A1-related familial vascular leukoencephalopathy  (DOID:0090125)
  • 17 papers in RGD have been used to annotate Col4a1
  • Curation Notes: ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage
  • Original References(s): PMID:28492532 PMID:30311386


  • An association has been curated linking Col4a1 and COL4A1-related familial vascular leukoencephalopathy in Rattus norvegicus.        

  • 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 COL4A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to COL4A1-related familial vascular leukoencephalopathy  (DOID:0090125)
  • 17 papers in RGD have been used to annotate Col4a1
  • Curation Notes: ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY WITH AXENFELD-RIEGER ANOMALY
  • Original References(s): PMID:26467025


  • An association has been curated linking Col4a1 and COL4A1-related familial vascular leukoencephalopathy in Rattus norvegicus.        

  • 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 COL4A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to COL4A1-related familial vascular leukoencephalopathy  (DOID:0090125)
  • 17 papers in RGD have been used to annotate Col4a1
  • Curation Notes: ClinVar Annotator: match by term: Brain small vessel disease 1 with or without ocular anomalies
  • Original References(s): PMID:25741869


  • An association has been curated linking Col4a1 and COL4A1-related familial vascular leukoencephalopathy in Rattus norvegicus.        

  • 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 COL4A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to COL4A1-related familial vascular leukoencephalopathy  (DOID:0090125)
  • 17 papers in RGD have been used to annotate Col4a1
  • Curation Notes: ClinVar Annotator: match by term: Brain small vessel disease 1 with or without ocular anomalies
  • Original References(s): PMID:21625620


  • An association has been curated linking Col4a1 and COL4A1-related familial vascular leukoencephalopathy in Rattus norvegicus.        

  • 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 COL4A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to COL4A1-related familial vascular leukoencephalopathy  (DOID:0090125)
  • 17 papers in RGD have been used to annotate Col4a1
  • Curation Notes: ClinVar Annotator: match by term: Brain small vessel disease 1 with or without ocular anomalies
  • Original References(s): PMID:21527998


  • An association has been curated linking Col4a1 and COL4A1-related familial vascular leukoencephalopathy in Rattus norvegicus.        

  • 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 COL4A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to COL4A1-related familial vascular leukoencephalopathy  (DOID:0090125)
  • 17 papers in RGD have been used to annotate Col4a1
  • Curation Notes: ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage
  • Original References(s): PMID:32818659


  • An association has been curated linking Col4a1 and COL4A1-related familial vascular leukoencephalopathy in Rattus norvegicus.        

  • 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 COL4A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to COL4A1-related familial vascular leukoencephalopathy  (DOID:0090125)
  • 17 papers in RGD have been used to annotate Col4a1
  • Curation Notes: ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage
  • Original References(s): PMID:28492532 PMID:32818659


  • An association has been curated linking Col4a1 and COL4A1-related familial vascular leukoencephalopathy in Rattus norvegicus.        

  • 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 COL4A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to COL4A1-related familial vascular leukoencephalopathy  (DOID:0090125)
  • 17 papers in RGD have been used to annotate Col4a1
  • Curation Notes: ClinVar Annotator: match by term: Brain small vessel disease 1 with or without ocular anomalies
  • Original References(s): PMID:25741868 PMID:30311386


  • An association has been curated linking Col4a1 and COL4A1-related familial vascular leukoencephalopathy in Rattus norvegicus.        

  • 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 COL4A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to COL4A1-related familial vascular leukoencephalopathy  (DOID:0090125)
  • 17 papers in RGD have been used to annotate Col4a1
  • Curation Notes: ClinVar Annotator: match by term: Brain small vessel disease 1 with or without ocular anomalies
  • Original References(s): PMID:25741868 PMID:32042920


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