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GENE - TERM ANNOTATION REPORT

16 Annotations Found.

An association has been curated linking TPM2 and nemaline myopathy 4 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:8599039 (Homo sapiens)
  • 1 RGD objects have been annotated to nemaline myopathy 4  (DOID:0110932)
  • 7 papers in RGD have been used to annotate TPM2
  • Curation Notes: ClinVar Annotator: match by term: Nemaline myopathy caused by mutation in the tropomyosin 2 gene
  • Original References(s): PMID:19047562


    • An association has been curated linking TPM2 and nemaline myopathy 4 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 nemaline myopathy 4  (DOID:0110932)
  • 7 papers in RGD have been used to annotate TPM2


    • An association has been curated linking TPM2 and nemaline myopathy 4 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:8641038 (Homo sapiens)
  • 1 RGD objects have been annotated to nemaline myopathy 4  (DOID:0110932)
  • 7 papers in RGD have been used to annotate TPM2
  • Curation Notes: ClinVar Annotator: match by term: Nemaline myopathy caused by mutation in the tropomyosin 2 gene
  • Original References(s): PMID:11738357 PMID:18414213 PMID:24033266 PMID:25741868


    • An association has been curated linking TPM2 and nemaline myopathy 4 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:11601017 (Homo sapiens)
  • 1 RGD objects have been annotated to nemaline myopathy 4  (DOID:0110932)
  • 7 papers in RGD have been used to annotate TPM2
  • Curation Notes: ClinVar Annotator: match by term: Nemaline myopathy caused by mutation in the tropomyosin 2 gene
  • Original References(s): PMID:26467025 PMID:28492532


    • An association has been curated linking TPM2 and nemaline myopathy 4 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:150520280 (Homo sapiens)
  • 1 RGD objects have been annotated to nemaline myopathy 4  (DOID:0110932)
  • 7 papers in RGD have been used to annotate TPM2
  • Curation Notes: ClinVar Annotator: match by term: Nemaline myopathy caused by mutation in the tropomyosin 2 gene
  • Original References(s): PMID:25741868 PMID:34008892


    • An association has been curated linking TPM2 and nemaline myopathy 4 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:8599034 (Homo sapiens)
  • 1 RGD objects have been annotated to nemaline myopathy 4  (DOID:0110932)
  • 7 papers in RGD have been used to annotate TPM2
  • Curation Notes: ClinVar Annotator: match by term: Nemaline myopathy caused by mutation in the tropomyosin 2 gene
  • Original References(s): PMID:11738357 PMID:18789687 PMID:20301436 PMID:22084935 PMID:23689010 PMID:23886664 PMID:24657080 PMID:24692096 PMID:28492532


    • An association has been curated linking TPM2 and nemaline myopathy 4 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:8599036 (Homo sapiens)
  • 1 RGD objects have been annotated to nemaline myopathy 4  (DOID:0110932)
  • 7 papers in RGD have been used to annotate TPM2
  • Curation Notes: ClinVar Annotator: match by term: Nemaline myopathy caused by mutation in the tropomyosin 2 gene
  • Original References(s): PMID:17846275 PMID:18420702 PMID:18422639 PMID:22084935 PMID:24039757 PMID:24692096 PMID:25978979 PMID:28492532


    • An association has been curated linking TPM2 and nemaline myopathy 4 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:13813582 (Homo sapiens)
  • 1 RGD objects have been annotated to nemaline myopathy 4  (DOID:0110932)
  • 7 papers in RGD have been used to annotate TPM2
  • Curation Notes: ClinVar Annotator: match by term: TPM2-related cap myopathy
  • Original References(s): PMID:22832343 PMID:25741868 PMID:28492532 PMID:31966463 PMID:33060286


    • An association has been curated linking TPM2 and nemaline myopathy 4 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:11348077 (Homo sapiens)
  • 1 RGD objects have been annotated to nemaline myopathy 4  (DOID:0110932)
  • 7 papers in RGD have been used to annotate TPM2
  • Curation Notes: ClinVar Annotator: match by term: Nemaline myopathy caused by mutation in the tropomyosin 2 gene
  • Original References(s): PMID:22832343 PMID:27854218 PMID:28492532


    • An association has been curated linking TPM2 and nemaline myopathy 4 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:8599033 (Homo sapiens)
  • 1 RGD objects have been annotated to nemaline myopathy 4  (DOID:0110932)
  • 7 papers in RGD have been used to annotate TPM2
  • Curation Notes: ClinVar Annotator: match by term: Nemaline myopathy caused by mutation in the tropomyosin 2 gene
  • Original References(s): PMID:11738357 PMID:22084935 PMID:26708479 PMID:28492532 PMID:30545627


    • An association has been curated linking TPM2 and nemaline myopathy 4 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 nemaline myopathy 4  (DOID:0110932)
  • 7 papers in RGD have been used to annotate TPM2
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking TPM2 and nemaline myopathy 4 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:13491414 (Homo sapiens)
  • 1 RGD objects have been annotated to nemaline myopathy 4  (DOID:0110932)
  • 7 papers in RGD have been used to annotate TPM2
  • Curation Notes: ClinVar Annotator: match by term: Nemaline myopathy caused by mutation in the tropomyosin 2 gene
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking TPM2 and nemaline myopathy 4 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:11600243|RGD:28884629 (Homo sapiens) & RGD:11600243|RGD:28884629 (Homo sapiens)
  • 1 RGD objects have been annotated to nemaline myopathy 4  (DOID:0110932)
  • 7 papers in RGD have been used to annotate TPM2
  • Curation Notes: ClinVar Annotator: match by term: Nemaline myopathy caused by mutation in the tropomyosin 2 gene
  • Original References(s): PMID:28492532


    • An association has been curated linking TPM2 and nemaline myopathy 4 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:39456351 (Homo sapiens)
  • 1 RGD objects have been annotated to nemaline myopathy 4  (DOID:0110932)
  • 7 papers in RGD have been used to annotate TPM2
  • Curation Notes: ClinVar Annotator: match by term: Nemaline myopathy caused by mutation in the tropomyosin 2 gene
  • Original References(s): PMID:23401156 PMID:24692096 PMID:25741868


    • An association has been curated linking TPM2 and nemaline myopathy 4 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:11601290|RGD:11601565|RGD:11603881|RGD:11652886|RGD:11653052|RGD:11659900|RGD:14715423|RGD:14715424|RGD:14715428|RGD:28876999|RGD:28877186|RGD:28878721|RGD:28878728|RGD:28887024|RGD:28887030|RGD:28887300|RGD:8696258 (Homo sapiens) & RGD:11601290|RGD:11601565|RGD:11603881|RGD:11652886|RGD:11653052|RGD:11659900|RGD:14715423|RGD:14715424|RGD:14715428|RGD:28876999|RGD:28877186|RGD:28878721|RGD:28878728|RGD:28887024|RGD:28887030|RGD:28887300|RGD:8696258 (Homo sapiens) & RGD:11601290|RGD:11601565|RGD:11603881|RGD:11652886|RGD:11653052|RGD:11659900|RGD:14715423|RGD:14715424|RGD:14715428|RGD:28876999|RGD:28877186|RGD:28878721|RGD:28878728|RGD:28887024|RGD:28887030|RGD:28887300|RGD:8696258 (Homo sapiens) & RGD:11601290|RGD:11601565|RGD:11603881|RGD:11652886|RGD:11653052|RGD:11659900|RGD:14715423|RGD:14715424|RGD:14715428|RGD:28876999|RGD:28877186|RGD:28878721|RGD:28878728|RGD:28887024|RGD:28887030|RGD:28887300|RGD:8696258 (Homo sapiens) & RGD:11601290|RGD:11601565|RGD:11603881|RGD:11652886|RGD:11653052|RGD:11659900|RGD:14715423|RGD:14715424|RGD:14715428|RGD:28876999|RGD:28877186|RGD:28878721|RGD:28878728|RGD:28887024|RGD:28887030|RGD:28887300|RGD:8696258 (Homo sapiens) & RGD:11601290|RGD:11601565|RGD:11603881|RGD:11652886|RGD:11653052|RGD:11659900|RGD:14715423|RGD:14715424|RGD:14715428|RGD:28876999|RGD:28877186|RGD:28878721|RGD:28878728|RGD:28887024|RGD:28887030|RGD:28887300|RGD:8696258 (Homo sapiens) & RGD:11601290|RGD:11601565|RGD:11603881|RGD:11652886|RGD:11653052|RGD:11659900|RGD:14715423|RGD:14715424|RGD:14715428|RGD:28876999|RGD:28877186|RGD:28878721|RGD:28878728|RGD:28887024|RGD:28887030|RGD:28887300|RGD:8696258 (Homo sapiens) & RGD:11601290|RGD:11601565|RGD:11603881|RGD:11652886|RGD:11653052|RGD:11659900|RGD:14715423|RGD:14715424|RGD:14715428|RGD:28876999|RGD:28877186|RGD:28878721|RGD:28878728|RGD:28887024|RGD:28887030|RGD:28887300|RGD:8696258 (Homo sapiens) & RGD:11601290|RGD:11601565|RGD:11603881|RGD:11652886|RGD:11653052|RGD:11659900|RGD:14715423|RGD:14715424|RGD:14715428|RGD:28876999|RGD:28877186|RGD:28878721|RGD:28878728|RGD:28887024|RGD:28887030|RGD:28887300|RGD:8696258 (Homo sapiens) & RGD:11601290|RGD:11601565|RGD:11603881|RGD:11652886|RGD:11653052|RGD:11659900|RGD:14715423|RGD:14715424|RGD:14715428|RGD:28876999|RGD:28877186|RGD:28878721|RGD:28878728|RGD:28887024|RGD:28887030|RGD:28887300|RGD:8696258 (Homo sapiens) & RGD:11601290|RGD:11601565|RGD:11603881|RGD:11652886|RGD:11653052|RGD:11659900|RGD:14715423|RGD:14715424|RGD:14715428|RGD:28876999|RGD:28877186|RGD:28878721|RGD:28878728|RGD:28887024|RGD:28887030|RGD:28887300|RGD:8696258 (Homo sapiens) & RGD:11601290|RGD:11601565|RGD:11603881|RGD:11652886|RGD:11653052|RGD:11659900|RGD:14715423|RGD:14715424|RGD:14715428|RGD:28876999|RGD:28877186|RGD:28878721|RGD:28878728|RGD:28887024|RGD:28887030|RGD:28887300|RGD:8696258 (Homo sapiens) & RGD:11601290|RGD:11601565|RGD:11603881|RGD:11652886|RGD:11653052|RGD:11659900|RGD:14715423|RGD:14715424|RGD:14715428|RGD:28876999|RGD:28877186|RGD:28878721|RGD:28878728|RGD:28887024|RGD:28887030|RGD:28887300|RGD:8696258 (Homo sapiens) & RGD:11601290|RGD:11601565|RGD:11603881|RGD:11652886|RGD:11653052|RGD:11659900|RGD:14715423|RGD:14715424|RGD:14715428|RGD:28876999|RGD:28877186|RGD:28878721|RGD:28878728|RGD:28887024|RGD:28887030|RGD:28887300|RGD:8696258 (Homo sapiens) & RGD:11601290|RGD:11601565|RGD:11603881|RGD:11652886|RGD:11653052|RGD:11659900|RGD:14715423|RGD:14715424|RGD:14715428|RGD:28876999|RGD:28877186|RGD:28878721|RGD:28878728|RGD:28887024|RGD:28887030|RGD:28887300|RGD:8696258 (Homo sapiens) & RGD:11601290|RGD:11601565|RGD:11603881|RGD:11652886|RGD:11653052|RGD:11659900|RGD:14715423|RGD:14715424|RGD:14715428|RGD:28876999|RGD:28877186|RGD:28878721|RGD:28878728|RGD:28887024|RGD:28887030|RGD:28887300|RGD:8696258 (Homo sapiens) & RGD:11601290|RGD:11601565|RGD:11603881|RGD:11652886|RGD:11653052|RGD:11659900|RGD:14715423|RGD:14715424|RGD:14715428|RGD:28876999|RGD:28877186|RGD:28878721|RGD:28878728|RGD:28887024|RGD:28887030|RGD:28887300|RGD:8696258 (Homo sapiens)
  • 1 RGD objects have been annotated to nemaline myopathy 4  (DOID:0110932)
  • 7 papers in RGD have been used to annotate TPM2
  • Curation Notes: ClinVar Annotator: match by term: Nemaline myopathy caused by mutation in the tropomyosin 2 gene


    • An association has been curated linking TPM2 and nemaline myopathy 4 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:11606825|RGD:126741363|RGD:13704833|RGD:14351789|RGD:401855623|RGD:401902194|RGD:8641037 (Homo sapiens) & RGD:11606825|RGD:126741363|RGD:13704833|RGD:14351789|RGD:401855623|RGD:401902194|RGD:8641037 (Homo sapiens) & RGD:11606825|RGD:126741363|RGD:13704833|RGD:14351789|RGD:401855623|RGD:401902194|RGD:8641037 (Homo sapiens) & RGD:11606825|RGD:126741363|RGD:13704833|RGD:14351789|RGD:401855623|RGD:401902194|RGD:8641037 (Homo sapiens) & RGD:11606825|RGD:126741363|RGD:13704833|RGD:14351789|RGD:401855623|RGD:401902194|RGD:8641037 (Homo sapiens) & RGD:11606825|RGD:126741363|RGD:13704833|RGD:14351789|RGD:401855623|RGD:401902194|RGD:8641037 (Homo sapiens) & RGD:11606825|RGD:126741363|RGD:13704833|RGD:14351789|RGD:401855623|RGD:401902194|RGD:8641037 (Homo sapiens)
  • 1 RGD objects have been annotated to nemaline myopathy 4  (DOID:0110932)
  • 7 papers in RGD have been used to annotate TPM2
  • Curation Notes: ClinVar Annotator: match by term: Cap myopathy 2 | ClinVar Annotator: match by term: Nemaline myopathy caused by mutation in the tropomyosin 2 gene
  • Original References(s): PMID:25741868


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