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GENE - TERM ANNOTATION REPORT

12 Annotations Found.

An association has been curated linking BSCL2 and autosomal dominant distal hereditary motor neuronopathy 5 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:8596476 (Homo sapiens)
  • 5 RGD objects have been annotated to autosomal dominant distal hereditary motor neuronopathy 5  (DOID:0111203)
  • 9 papers in RGD have been used to annotate BSCL2
  • Curation Notes: ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A
  • Original References(s): PMID:11479539 PMID:14981520 PMID:17387721 PMID:17486577 PMID:20806400 PMID:21957196 PMID:24604904 PMID:25487175 PMID:25741868 PMID:25832430 PMID:26467025 PMID:26815532 PMID:26989944 PMID:27027447 PMID:27738760 PMID:27862672 PMID:28362824 PMID:28492532 PMID:31372974 PMID:31475473


    • An association has been curated linking BSCL2 and autosomal dominant distal hereditary motor neuronopathy 5 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:10768053|RGD:11523994|RGD:11543772|RGD:11546074|RGD:11602644|RGD:13526417|RGD:13810364|RGD:28908043|RGD:8659107 (Homo sapiens) & RGD:10768053|RGD:11523994|RGD:11543772|RGD:11546074|RGD:11602644|RGD:13526417|RGD:13810364|RGD:28908043|RGD:8659107 (Homo sapiens) & RGD:10768053|RGD:11523994|RGD:11543772|RGD:11546074|RGD:11602644|RGD:13526417|RGD:13810364|RGD:28908043|RGD:8659107 (Homo sapiens) & RGD:10768053|RGD:11523994|RGD:11543772|RGD:11546074|RGD:11602644|RGD:13526417|RGD:13810364|RGD:28908043|RGD:8659107 (Homo sapiens) & RGD:10768053|RGD:11523994|RGD:11543772|RGD:11546074|RGD:11602644|RGD:13526417|RGD:13810364|RGD:28908043|RGD:8659107 (Homo sapiens) & RGD:10768053|RGD:11523994|RGD:11543772|RGD:11546074|RGD:11602644|RGD:13526417|RGD:13810364|RGD:28908043|RGD:8659107 (Homo sapiens) & RGD:10768053|RGD:11523994|RGD:11543772|RGD:11546074|RGD:11602644|RGD:13526417|RGD:13810364|RGD:28908043|RGD:8659107 (Homo sapiens) & RGD:10768053|RGD:11523994|RGD:11543772|RGD:11546074|RGD:11602644|RGD:13526417|RGD:13810364|RGD:28908043|RGD:8659107 (Homo sapiens) & RGD:10768053|RGD:11523994|RGD:11543772|RGD:11546074|RGD:11602644|RGD:13526417|RGD:13810364|RGD:28908043|RGD:8659107 (Homo sapiens)
  • 5 RGD objects have been annotated to autosomal dominant distal hereditary motor neuronopathy 5  (DOID:0111203)
  • 9 papers in RGD have been used to annotate BSCL2
  • Curation Notes: ClinVar Annotator: match by term: DHMN VA | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking BSCL2 and autosomal dominant distal hereditary motor neuronopathy 5 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:11601875|RGD:11605476|RGD:11617214 (Homo sapiens) & RGD:11601875|RGD:11605476|RGD:11617214 (Homo sapiens) & RGD:11601875|RGD:11605476|RGD:11617214 (Homo sapiens)
  • 5 RGD objects have been annotated to autosomal dominant distal hereditary motor neuronopathy 5  (DOID:0111203)
  • 9 papers in RGD have been used to annotate BSCL2
  • Curation Notes: ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A
  • Original References(s): PMID:25741868


    • An association has been curated linking BSCL2 and autosomal dominant distal hereditary motor neuronopathy 5 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:11603526 (Homo sapiens)
  • 5 RGD objects have been annotated to autosomal dominant distal hereditary motor neuronopathy 5  (DOID:0111203)
  • 9 papers in RGD have been used to annotate BSCL2
  • Curation Notes: ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A
  • Original References(s): PMID:18690553 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31824185 PMID:35351089


    • An association has been curated linking BSCL2 and autosomal dominant distal hereditary motor neuronopathy 5 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:11620745 (Homo sapiens)
  • 5 RGD objects have been annotated to autosomal dominant distal hereditary motor neuronopathy 5  (DOID:0111203)
  • 9 papers in RGD have been used to annotate BSCL2
  • Curation Notes: ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A
  • Original References(s): PMID:25741868 PMID:26467025 PMID:27144933 PMID:28492532


    • An association has been curated linking BSCL2 and autosomal dominant distal hereditary motor neuronopathy 5 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:11599227|RGD:11602309|RGD:11614070|RGD:11615853|RGD:11618071|RGD:11623024|RGD:11648162|RGD:11656255|RGD:28900491 (Homo sapiens) & RGD:11599227|RGD:11602309|RGD:11614070|RGD:11615853|RGD:11618071|RGD:11623024|RGD:11648162|RGD:11656255|RGD:28900491 (Homo sapiens) & RGD:11599227|RGD:11602309|RGD:11614070|RGD:11615853|RGD:11618071|RGD:11623024|RGD:11648162|RGD:11656255|RGD:28900491 (Homo sapiens) & RGD:11599227|RGD:11602309|RGD:11614070|RGD:11615853|RGD:11618071|RGD:11623024|RGD:11648162|RGD:11656255|RGD:28900491 (Homo sapiens) & RGD:11599227|RGD:11602309|RGD:11614070|RGD:11615853|RGD:11618071|RGD:11623024|RGD:11648162|RGD:11656255|RGD:28900491 (Homo sapiens) & RGD:11599227|RGD:11602309|RGD:11614070|RGD:11615853|RGD:11618071|RGD:11623024|RGD:11648162|RGD:11656255|RGD:28900491 (Homo sapiens) & RGD:11599227|RGD:11602309|RGD:11614070|RGD:11615853|RGD:11618071|RGD:11623024|RGD:11648162|RGD:11656255|RGD:28900491 (Homo sapiens) & RGD:11599227|RGD:11602309|RGD:11614070|RGD:11615853|RGD:11618071|RGD:11623024|RGD:11648162|RGD:11656255|RGD:28900491 (Homo sapiens) & RGD:11599227|RGD:11602309|RGD:11614070|RGD:11615853|RGD:11618071|RGD:11623024|RGD:11648162|RGD:11656255|RGD:28900491 (Homo sapiens)
  • 5 RGD objects have been annotated to autosomal dominant distal hereditary motor neuronopathy 5  (DOID:0111203)
  • 9 papers in RGD have been used to annotate BSCL2
  • Curation Notes: ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A


    • An association has been curated linking BSCL2 and autosomal dominant distal hereditary motor neuronopathy 5 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:8596475 (Homo sapiens)
  • 5 RGD objects have been annotated to autosomal dominant distal hereditary motor neuronopathy 5  (DOID:0111203)
  • 9 papers in RGD have been used to annotate BSCL2
  • Curation Notes: ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A
  • Original References(s): PMID:14981520 PMID:15126564 PMID:15732094 PMID:16427281 PMID:16574104 PMID:1674639 PMID:17387721 PMID:18585921 PMID:18790819 PMID:19396477 PMID:20598714 PMID:21750110 PMID:21957196 PMID:22045697 PMID:22474068 PMID:23553728 PMID:24345054 PMID:25219579 PMID:25454168 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32320108 PMID:5964029


    • An association has been curated linking BSCL2 and autosomal dominant distal hereditary motor neuronopathy 5 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:11523512|RGD:11523722|RGD:11598703|RGD:11606008|RGD:11613149|RGD:13538275|RGD:28906902|RGD:28908039|RGD:9586792 (Homo sapiens) & RGD:11523512|RGD:11523722|RGD:11598703|RGD:11606008|RGD:11613149|RGD:13538275|RGD:28906902|RGD:28908039|RGD:9586792 (Homo sapiens) & RGD:11523512|RGD:11523722|RGD:11598703|RGD:11606008|RGD:11613149|RGD:13538275|RGD:28906902|RGD:28908039|RGD:9586792 (Homo sapiens) & RGD:11523512|RGD:11523722|RGD:11598703|RGD:11606008|RGD:11613149|RGD:13538275|RGD:28906902|RGD:28908039|RGD:9586792 (Homo sapiens) & RGD:11523512|RGD:11523722|RGD:11598703|RGD:11606008|RGD:11613149|RGD:13538275|RGD:28906902|RGD:28908039|RGD:9586792 (Homo sapiens) & RGD:11523512|RGD:11523722|RGD:11598703|RGD:11606008|RGD:11613149|RGD:13538275|RGD:28906902|RGD:28908039|RGD:9586792 (Homo sapiens) & RGD:11523512|RGD:11523722|RGD:11598703|RGD:11606008|RGD:11613149|RGD:13538275|RGD:28906902|RGD:28908039|RGD:9586792 (Homo sapiens) & RGD:11523512|RGD:11523722|RGD:11598703|RGD:11606008|RGD:11613149|RGD:13538275|RGD:28906902|RGD:28908039|RGD:9586792 (Homo sapiens) & RGD:11523512|RGD:11523722|RGD:11598703|RGD:11606008|RGD:11613149|RGD:13538275|RGD:28906902|RGD:28908039|RGD:9586792 (Homo sapiens)
  • 5 RGD objects have been annotated to autosomal dominant distal hereditary motor neuronopathy 5  (DOID:0111203)
  • 9 papers in RGD have been used to annotate BSCL2
  • Curation Notes: ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A
  • Original References(s): PMID:28492532


    • An association has been curated linking BSCL2 and autosomal dominant distal hereditary motor neuronopathy 5 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:8657498 (Homo sapiens)
  • 5 RGD objects have been annotated to autosomal dominant distal hereditary motor neuronopathy 5  (DOID:0111203)
  • 9 papers in RGD have been used to annotate BSCL2
  • Curation Notes: ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A
  • Original References(s): PMID:18690553 PMID:23963299 PMID:25588603 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31824185 PMID:35351089


    • An association has been curated linking BSCL2 and autosomal dominant distal hereditary motor neuronopathy 5 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:14688111 (Homo sapiens)
  • 5 RGD objects have been annotated to autosomal dominant distal hereditary motor neuronopathy 5  (DOID:0111203)
  • 9 papers in RGD have been used to annotate BSCL2
  • Curation Notes: ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A
  • Original References(s): PMID:14557463 PMID:19226263 PMID:23989774


    • An association has been curated linking BSCL2 and autosomal dominant distal hereditary motor neuronopathy 5 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:11604949 (Homo sapiens)
  • 5 RGD objects have been annotated to autosomal dominant distal hereditary motor neuronopathy 5  (DOID:0111203)
  • 9 papers in RGD have been used to annotate BSCL2
  • Curation Notes: ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A
  • Original References(s): PMID:26467025


    • An association has been curated linking BSCL2 and autosomal dominant distal hereditary motor neuronopathy 5 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:11608122|RGD:11620364 (Homo sapiens) & RGD:11608122|RGD:11620364 (Homo sapiens)
  • 5 RGD objects have been annotated to autosomal dominant distal hereditary motor neuronopathy 5  (DOID:0111203)
  • 9 papers in RGD have been used to annotate BSCL2
  • Curation Notes: ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A
  • Original References(s): PMID:26467025 PMID:28492532


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