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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Npr2 and acromesomelic dysplasia, Maroteaux type 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 NPR2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 86 RGD objects have been annotated to acromesomelic dysplasia, Maroteaux type  (DOID:0080050)
  • 19 papers in RGD have been used to annotate Npr2


    • An association has been curated linking Npr2 and acromesomelic dysplasia, Maroteaux type in Rattus norvegicus.        

  • The association was inferred from sequence or structural similarity (ISS)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Npr2 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 86 RGD objects have been annotated to acromesomelic dysplasia, Maroteaux type  (DOID:0080050)
  • 19 papers in RGD have been used to annotate Npr2
  • Curation Notes: OMIM:602875


    • An association has been curated linking Npr2 and acromesomelic dysplasia, Maroteaux type in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with NPR2 (Homo sapiens) [(EXP) inferred from experiment]
  • 86 RGD objects have been annotated to acromesomelic dysplasia, Maroteaux type  (DOID:0080050)
  • 19 papers in RGD have been used to annotate Npr2
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Npr2 and acromesomelic dysplasia, Maroteaux type 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 NPR2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 86 RGD objects have been annotated to acromesomelic dysplasia, Maroteaux type  (DOID:0080050)
  • 19 papers in RGD have been used to annotate Npr2
  • Curation Notes: ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 1 | ClinVar Annotator: match by term: Acromesomelic dwarfism Maroteux type | ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type | ClinVar Annotator: match by term: Acromesomelic dysplasia, Maroteaux type | ClinVar Annotator: match by term: ST. HELENA DYSPLASIA
  • Original References(s): PMID:15146390 PMID:15572448 PMID:16199547 PMID:16384845 PMID:17576681 PMID:18945719 PMID:22691581 PMID:23065701 PMID:24001744 PMID:24259409 PMID:24471569 PMID:25387261 PMID:25703509 PMID:25741868 PMID:25959430 PMID:26075495 PMID:26284228 PMID:26349192 PMID:26567084 PMID:26633542 PMID:26980729 PMID:27994189 PMID:28492532 PMID:30359775 PMID:30408610 PMID:30602027 PMID:30622824 PMID:31960617 PMID:31990356 PMID:32506268 PMID:32694885 PMID:32720985 PMID:33205215 PMID:33288834 PMID:34006472 PMID:34008892 PMID:34162036 PMID:34217350 PMID:35368703 PMID:35455946 PMID:9536098


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