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GENE - TERM ANNOTATION REPORT

33 Annotations Found.

An association has been curated linking TRPV4 and metatropic dysplasia 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:10450014 (Homo sapiens)
  • 2 RGD objects have been annotated to metatropic dysplasia  (DOID:0111514)
  • 5 papers in RGD have been used to annotate TRPV4
  • Curation Notes: ClinVar Annotator: match by term: Metatropic dwarfism
  • Original References(s): PMID:22419508 PMID:25741868 PMID:26467025 PMID:28492532


    • An association has been curated linking TRPV4 and metatropic dysplasia 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:8596641 (Homo sapiens)
  • 2 RGD objects have been annotated to metatropic dysplasia  (DOID:0111514)
  • 5 papers in RGD have been used to annotate TRPV4
  • Curation Notes: ClinVar Annotator: match by term: Metatropic dysplasia
  • Original References(s): PMID:19232556 PMID:20425821


    • An association has been curated linking TRPV4 and metatropic dysplasia 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:8596644 (Homo sapiens)
  • 2 RGD objects have been annotated to metatropic dysplasia  (DOID:0111514)
  • 5 papers in RGD have been used to annotate TRPV4
  • Curation Notes: ClinVar Annotator: match by term: Metatropic dysplasia
  • Original References(s): PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20460441 PMID:21288981 PMID:21336783 PMID:21454511 PMID:22702953 PMID:24575025 PMID:24789864 PMID:24963089 PMID:25256292 PMID:25741868 PMID:25900305 PMID:26110311 PMID:26467025 PMID:26948711 PMID:27751652 PMID:28492532 PMID:29858556 PMID:30230566 PMID:30373780 PMID:4056805 PMID:8179305


    • An association has been curated linking TRPV4 and metatropic dysplasia 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:10405893 (Homo sapiens)
  • 2 RGD objects have been annotated to metatropic dysplasia  (DOID:0111514)
  • 5 papers in RGD have been used to annotate TRPV4
  • Curation Notes: ClinVar Annotator: match by term: Metatropic dysplasia
  • Original References(s): PMID:22851605 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28898540


    • An association has been curated linking TRPV4 and metatropic dysplasia 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
  • 2 RGD objects have been annotated to metatropic dysplasia  (DOID:0111514)
  • 5 papers in RGD have been used to annotate TRPV4
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:20425821


    • An association has been curated linking TRPV4 and metatropic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 2 RGD objects have been annotated to metatropic dysplasia  (DOID:0111514)
  • 5 papers in RGD have been used to annotate TRPV4


    • An association has been curated linking TRPV4 and metatropic dysplasia 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:8596647 (Homo sapiens)
  • 2 RGD objects have been annotated to metatropic dysplasia  (DOID:0111514)
  • 5 papers in RGD have been used to annotate TRPV4
  • Curation Notes: ClinVar Annotator: match by term: Metatropic dwarfism
  • Original References(s): PMID:19666518 PMID:25741868 PMID:26467025 PMID:28492532


    • An association has been curated linking TRPV4 and metatropic dysplasia 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:8596649 (Homo sapiens)
  • 2 RGD objects have been annotated to metatropic dysplasia  (DOID:0111514)
  • 5 papers in RGD have been used to annotate TRPV4
  • Curation Notes: ClinVar Annotator: match by term: Metatropic dysplasia
  • Original References(s): PMID:20577006 PMID:21658220


    • An association has been curated linking TRPV4 and metatropic dysplasia 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:8596642 (Homo sapiens)
  • 2 RGD objects have been annotated to metatropic dysplasia  (DOID:0111514)
  • 5 papers in RGD have been used to annotate TRPV4
  • Curation Notes: ClinVar Annotator: match by term: Metatropic dwarfism
  • Original References(s): PMID:14755468 PMID:17879966 PMID:19232556 PMID:20425821 PMID:20503319 PMID:20577006 PMID:21573172 PMID:21658220 PMID:25741868 PMID:26170305 PMID:26249260 PMID:28492532 PMID:6628444


    • An association has been curated linking TRPV4 and metatropic dysplasia 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:10405633 (Homo sapiens)
  • 2 RGD objects have been annotated to metatropic dysplasia  (DOID:0111514)
  • 5 papers in RGD have been used to annotate TRPV4
  • Curation Notes: ClinVar Annotator: match by term: Metatropic dwarfism
  • Original References(s): PMID:22689196 PMID:22851605 PMID:25741868 PMID:26467025 PMID:28492532


    • An association has been curated linking TRPV4 and metatropic dysplasia 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:11523740 (Homo sapiens)
  • 2 RGD objects have been annotated to metatropic dysplasia  (DOID:0111514)
  • 5 papers in RGD have been used to annotate TRPV4
  • Curation Notes: ClinVar Annotator: match by term: Metatropic dysplasia
  • Original References(s): PMID:25741868 PMID:26392352 PMID:28492532


    • An association has been curated linking TRPV4 and metatropic dysplasia 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:10405923 (Homo sapiens)
  • 2 RGD objects have been annotated to metatropic dysplasia  (DOID:0111514)
  • 5 papers in RGD have been used to annotate TRPV4
  • Curation Notes: ClinVar Annotator: match by term: Metatropic dysplasia
  • Original References(s): PMID:25326637 PMID:25741868 PMID:28492532


    • An association has been curated linking TRPV4 and metatropic dysplasia 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:10450016 (Homo sapiens)
  • 2 RGD objects have been annotated to metatropic dysplasia  (DOID:0111514)
  • 5 papers in RGD have been used to annotate TRPV4
  • Curation Notes: ClinVar Annotator: match by term: Metatropic dysplasia
  • Original References(s): PMID:20425821 PMID:27530454


    • An association has been curated linking TRPV4 and metatropic dysplasia 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:10450022 (Homo sapiens)
  • 2 RGD objects have been annotated to metatropic dysplasia  (DOID:0111514)
  • 5 papers in RGD have been used to annotate TRPV4
  • Curation Notes: ClinVar Annotator: match by term: Metatropic dysplasia
  • Original References(s): PMID:21658220 PMID:24830047 PMID:25741868 PMID:28492532


    • An association has been curated linking TRPV4 and metatropic dysplasia 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:13802403 (Homo sapiens)
  • 2 RGD objects have been annotated to metatropic dysplasia  (DOID:0111514)
  • 5 papers in RGD have been used to annotate TRPV4
  • Curation Notes: ClinVar Annotator: match by term: Metatropic dysplasia
  • Original References(s): PMID:25741868 PMID:25900305 PMID:26392352 PMID:28251916 PMID:28492532


    • An association has been curated linking TRPV4 and metatropic dysplasia 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:8596638 (Homo sapiens)
  • 2 RGD objects have been annotated to metatropic dysplasia  (DOID:0111514)
  • 5 papers in RGD have been used to annotate TRPV4
  • Curation Notes: ClinVar Annotator: match by term: Metatropic dysplasia
  • Original References(s): PMID:17879966 PMID:19232556 PMID:20503319 PMID:20577006 PMID:21573172 PMID:21658220 PMID:25741868 PMID:26377240 PMID:28492532 PMID:28687525 PMID:29776788 PMID:32381727 PMID:34008892


    • An association has been curated linking TRPV4 and metatropic dysplasia 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:8602232 (Homo sapiens)
  • 2 RGD objects have been annotated to metatropic dysplasia  (DOID:0111514)
  • 5 papers in RGD have been used to annotate TRPV4
  • Curation Notes: ClinVar Annotator: match by term: Metatropic dysplasia
  • Original References(s): PMID:20425821 PMID:22702953 PMID:28492532


    • An association has been curated linking TRPV4 and metatropic dysplasia 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:28868622 (Homo sapiens)
  • 2 RGD objects have been annotated to metatropic dysplasia  (DOID:0111514)
  • 5 papers in RGD have been used to annotate TRPV4
  • Curation Notes: ClinVar Annotator: match by term: Metatropic dysplasia
  • Original References(s): PMID:21964574 PMID:28492532 PMID:30373780


    • An association has been curated linking TRPV4 and metatropic dysplasia 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:8602231 (Homo sapiens)
  • 2 RGD objects have been annotated to metatropic dysplasia  (DOID:0111514)
  • 5 papers in RGD have been used to annotate TRPV4
  • Curation Notes: ClinVar Annotator: match by term: Metatropic dwarfism
  • Original References(s): PMID:20425821 PMID:25741868


    • An association has been curated linking TRPV4 and metatropic dysplasia 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:10047736|RGD:10405732|RGD:10408685|RGD:11523153|RGD:11524067|RGD:11524074|RGD:11578695|RGD:11599303|RGD:11599350|RGD:11600228|RGD:11612414|RGD:11613768|RGD:11614942|RGD:126920959|RGD:12835228|RGD:12835603|RGD:12887143|RGD:13530269|RGD:13532381|RGD:14701725|RGD:8691469 (Homo sapiens) & RGD:10047736|RGD:10405732|RGD:10408685|RGD:11523153|RGD:11524067|RGD:11524074|RGD:11578695|RGD:11599303|RGD:11599350|RGD:11600228|RGD:11612414|RGD:11613768|RGD:11614942|RGD:126920959|RGD:12835228|RGD:12835603|RGD:12887143|RGD:13530269|RGD:13532381|RGD:14701725|RGD:8691469 (Homo sapiens) & RGD:10047736|RGD:10405732|RGD:10408685|RGD:11523153|RGD:11524067|RGD:11524074|RGD:11578695|RGD:11599303|RGD:11599350|RGD:11600228|RGD:11612414|RGD:11613768|RGD:11614942|RGD:126920959|RGD:12835228|RGD:12835603|RGD:12887143|RGD:13530269|RGD:13532381|RGD:14701725|RGD:8691469 (Homo sapiens) & RGD:10047736|RGD:10405732|RGD:10408685|RGD:11523153|RGD:11524067|RGD:11524074|RGD:11578695|RGD:11599303|RGD:11599350|RGD:11600228|RGD:11612414|RGD:11613768|RGD:11614942|RGD:126920959|RGD:12835228|RGD:12835603|RGD:12887143|RGD:13530269|RGD:13532381|RGD:14701725|RGD:8691469 (Homo sapiens) & RGD:10047736|RGD:10405732|RGD:10408685|RGD:11523153|RGD:11524067|RGD:11524074|RGD:11578695|RGD:11599303|RGD:11599350|RGD:11600228|RGD:11612414|RGD:11613768|RGD:11614942|RGD:126920959|RGD:12835228|RGD:12835603|RGD:12887143|RGD:13530269|RGD:13532381|RGD:14701725|RGD:8691469 (Homo sapiens) & RGD:10047736|RGD:10405732|RGD:10408685|RGD:11523153|RGD:11524067|RGD:11524074|RGD:11578695|RGD:11599303|RGD:11599350|RGD:11600228|RGD:11612414|RGD:11613768|RGD:11614942|RGD:126920959|RGD:12835228|RGD:12835603|RGD:12887143|RGD:13530269|RGD:13532381|RGD:14701725|RGD:8691469 (Homo sapiens) & RGD:10047736|RGD:10405732|RGD:10408685|RGD:11523153|RGD:11524067|RGD:11524074|RGD:11578695|RGD:11599303|RGD:11599350|RGD:11600228|RGD:11612414|RGD:11613768|RGD:11614942|RGD:126920959|RGD:12835228|RGD:12835603|RGD:12887143|RGD:13530269|RGD:13532381|RGD:14701725|RGD:8691469 (Homo sapiens) & RGD:10047736|RGD:10405732|RGD:10408685|RGD:11523153|RGD:11524067|RGD:11524074|RGD:11578695|RGD:11599303|RGD:11599350|RGD:11600228|RGD:11612414|RGD:11613768|RGD:11614942|RGD:126920959|RGD:12835228|RGD:12835603|RGD:12887143|RGD:13530269|RGD:13532381|RGD:14701725|RGD:8691469 (Homo sapiens) & RGD:10047736|RGD:10405732|RGD:10408685|RGD:11523153|RGD:11524067|RGD:11524074|RGD:11578695|RGD:11599303|RGD:11599350|RGD:11600228|RGD:11612414|RGD:11613768|RGD:11614942|RGD:126920959|RGD:12835228|RGD:12835603|RGD:12887143|RGD:13530269|RGD:13532381|RGD:14701725|RGD:8691469 (Homo sapiens) & RGD:10047736|RGD:10405732|RGD:10408685|RGD:11523153|RGD:11524067|RGD:11524074|RGD:11578695|RGD:11599303|RGD:11599350|RGD:11600228|RGD:11612414|RGD:11613768|RGD:11614942|RGD:126920959|RGD:12835228|RGD:12835603|RGD:12887143|RGD:13530269|RGD:13532381|RGD:14701725|RGD:8691469 (Homo sapiens) & RGD:10047736|RGD:10405732|RGD:10408685|RGD:11523153|RGD:11524067|RGD:11524074|RGD:11578695|RGD:11599303|RGD:11599350|RGD:11600228|RGD:11612414|RGD:11613768|RGD:11614942|RGD:126920959|RGD:12835228|RGD:12835603|RGD:12887143|RGD:13530269|RGD:13532381|RGD:14701725|RGD:8691469 (Homo sapiens) & RGD:10047736|RGD:10405732|RGD:10408685|RGD:11523153|RGD:11524067|RGD:11524074|RGD:11578695|RGD:11599303|RGD:11599350|RGD:11600228|RGD:11612414|RGD:11613768|RGD:11614942|RGD:126920959|RGD:12835228|RGD:12835603|RGD:12887143|RGD:13530269|RGD:13532381|RGD:14701725|RGD:8691469 (Homo sapiens) & RGD:10047736|RGD:10405732|RGD:10408685|RGD:11523153|RGD:11524067|RGD:11524074|RGD:11578695|RGD:11599303|RGD:11599350|RGD:11600228|RGD:11612414|RGD:11613768|RGD:11614942|RGD:126920959|RGD:12835228|RGD:12835603|RGD:12887143|RGD:13530269|RGD:13532381|RGD:14701725|RGD:8691469 (Homo sapiens) & RGD:10047736|RGD:10405732|RGD:10408685|RGD:11523153|RGD:11524067|RGD:11524074|RGD:11578695|RGD:11599303|RGD:11599350|RGD:11600228|RGD:11612414|RGD:11613768|RGD:11614942|RGD:126920959|RGD:12835228|RGD:12835603|RGD:12887143|RGD:13530269|RGD:13532381|RGD:14701725|RGD:8691469 (Homo sapiens) & RGD:10047736|RGD:10405732|RGD:10408685|RGD:11523153|RGD:11524067|RGD:11524074|RGD:11578695|RGD:11599303|RGD:11599350|RGD:11600228|RGD:11612414|RGD:11613768|RGD:11614942|RGD:126920959|RGD:12835228|RGD:12835603|RGD:12887143|RGD:13530269|RGD:13532381|RGD:14701725|RGD:8691469 (Homo sapiens) & RGD:10047736|RGD:10405732|RGD:10408685|RGD:11523153|RGD:11524067|RGD:11524074|RGD:11578695|RGD:11599303|RGD:11599350|RGD:11600228|RGD:11612414|RGD:11613768|RGD:11614942|RGD:126920959|RGD:12835228|RGD:12835603|RGD:12887143|RGD:13530269|RGD:13532381|RGD:14701725|RGD:8691469 (Homo sapiens) & RGD:10047736|RGD:10405732|RGD:10408685|RGD:11523153|RGD:11524067|RGD:11524074|RGD:11578695|RGD:11599303|RGD:11599350|RGD:11600228|RGD:11612414|RGD:11613768|RGD:11614942|RGD:126920959|RGD:12835228|RGD:12835603|RGD:12887143|RGD:13530269|RGD:13532381|RGD:14701725|RGD:8691469 (Homo sapiens) & RGD:10047736|RGD:10405732|RGD:10408685|RGD:11523153|RGD:11524067|RGD:11524074|RGD:11578695|RGD:11599303|RGD:11599350|RGD:11600228|RGD:11612414|RGD:11613768|RGD:11614942|RGD:126920959|RGD:12835228|RGD:12835603|RGD:12887143|RGD:13530269|RGD:13532381|RGD:14701725|RGD:8691469 (Homo sapiens) & RGD:10047736|RGD:10405732|RGD:10408685|RGD:11523153|RGD:11524067|RGD:11524074|RGD:11578695|RGD:11599303|RGD:11599350|RGD:11600228|RGD:11612414|RGD:11613768|RGD:11614942|RGD:126920959|RGD:12835228|RGD:12835603|RGD:12887143|RGD:13530269|RGD:13532381|RGD:14701725|RGD:8691469 (Homo sapiens) & RGD:10047736|RGD:10405732|RGD:10408685|RGD:11523153|RGD:11524067|RGD:11524074|RGD:11578695|RGD:11599303|RGD:11599350|RGD:11600228|RGD:11612414|RGD:11613768|RGD:11614942|RGD:126920959|RGD:12835228|RGD:12835603|RGD:12887143|RGD:13530269|RGD:13532381|RGD:14701725|RGD:8691469 (Homo sapiens) & RGD:10047736|RGD:10405732|RGD:10408685|RGD:11523153|RGD:11524067|RGD:11524074|RGD:11578695|RGD:11599303|RGD:11599350|RGD:11600228|RGD:11612414|RGD:11613768|RGD:11614942|RGD:126920959|RGD:12835228|RGD:12835603|RGD:12887143|RGD:13530269|RGD:13532381|RGD:14701725|RGD:8691469 (Homo sapiens)
  • 2 RGD objects have been annotated to metatropic dysplasia  (DOID:0111514)
  • 5 papers in RGD have been used to annotate TRPV4
  • Curation Notes: ClinVar Annotator: match by term: Metatropic dwarfism | ClinVar Annotator: match by term: Metatropic dysplasia
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking TRPV4 and metatropic dysplasia 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:10408735|RGD:11603567 (Homo sapiens) & RGD:10408735|RGD:11603567 (Homo sapiens)
  • 2 RGD objects have been annotated to metatropic dysplasia  (DOID:0111514)
  • 5 papers in RGD have been used to annotate TRPV4
  • Curation Notes: ClinVar Annotator: match by term: Metatropic dysplasia
  • Original References(s): PMID:26467025 PMID:28492532


    • An association has been curated linking TRPV4 and metatropic dysplasia 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:8596652 (Homo sapiens)
  • 2 RGD objects have been annotated to metatropic dysplasia  (DOID:0111514)
  • 5 papers in RGD have been used to annotate TRPV4
  • Curation Notes: ClinVar Annotator: match by term: Metatropic dwarfism
  • Original References(s): PMID:20425821 PMID:20503319 PMID:20577006 PMID:21573172 PMID:25741868 PMID:26170305 PMID:28492532 PMID:34529350


    • An association has been curated linking TRPV4 and metatropic dysplasia 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:10052840|RGD:10405828|RGD:10408845|RGD:10767457|RGD:11345995|RGD:11348158|RGD:11348334|RGD:11349743|RGD:11547757|RGD:11549597|RGD:11551927|RGD:11578052|RGD:11601455|RGD:11601575|RGD:11602394|RGD:13480296|RGD:13480741|RGD:13518558|RGD:8691465|RGD:8691466|RGD:8691467|RGD:8691468 (Homo sapiens) & RGD:10052840|RGD:10405828|RGD:10408845|RGD:10767457|RGD:11345995|RGD:11348158|RGD:11348334|RGD:11349743|RGD:11547757|RGD:11549597|RGD:11551927|RGD:11578052|RGD:11601455|RGD:11601575|RGD:11602394|RGD:13480296|RGD:13480741|RGD:13518558|RGD:8691465|RGD:8691466|RGD:8691467|RGD:8691468 (Homo sapiens) & RGD:10052840|RGD:10405828|RGD:10408845|RGD:10767457|RGD:11345995|RGD:11348158|RGD:11348334|RGD:11349743|RGD:11547757|RGD:11549597|RGD:11551927|RGD:11578052|RGD:11601455|RGD:11601575|RGD:11602394|RGD:13480296|RGD:13480741|RGD:13518558|RGD:8691465|RGD:8691466|RGD:8691467|RGD:8691468 (Homo sapiens) & RGD:10052840|RGD:10405828|RGD:10408845|RGD:10767457|RGD:11345995|RGD:11348158|RGD:11348334|RGD:11349743|RGD:11547757|RGD:11549597|RGD:11551927|RGD:11578052|RGD:11601455|RGD:11601575|RGD:11602394|RGD:13480296|RGD:13480741|RGD:13518558|RGD:8691465|RGD:8691466|RGD:8691467|RGD:8691468 (Homo sapiens) & RGD:10052840|RGD:10405828|RGD:10408845|RGD:10767457|RGD:11345995|RGD:11348158|RGD:11348334|RGD:11349743|RGD:11547757|RGD:11549597|RGD:11551927|RGD:11578052|RGD:11601455|RGD:11601575|RGD:11602394|RGD:13480296|RGD:13480741|RGD:13518558|RGD:8691465|RGD:8691466|RGD:8691467|RGD:8691468 (Homo sapiens) & RGD:10052840|RGD:10405828|RGD:10408845|RGD:10767457|RGD:11345995|RGD:11348158|RGD:11348334|RGD:11349743|RGD:11547757|RGD:11549597|RGD:11551927|RGD:11578052|RGD:11601455|RGD:11601575|RGD:11602394|RGD:13480296|RGD:13480741|RGD:13518558|RGD:8691465|RGD:8691466|RGD:8691467|RGD:8691468 (Homo sapiens) & RGD:10052840|RGD:10405828|RGD:10408845|RGD:10767457|RGD:11345995|RGD:11348158|RGD:11348334|RGD:11349743|RGD:11547757|RGD:11549597|RGD:11551927|RGD:11578052|RGD:11601455|RGD:11601575|RGD:11602394|RGD:13480296|RGD:13480741|RGD:13518558|RGD:8691465|RGD:8691466|RGD:8691467|RGD:8691468 (Homo sapiens) & RGD:10052840|RGD:10405828|RGD:10408845|RGD:10767457|RGD:11345995|RGD:11348158|RGD:11348334|RGD:11349743|RGD:11547757|RGD:11549597|RGD:11551927|RGD:11578052|RGD:11601455|RGD:11601575|RGD:11602394|RGD:13480296|RGD:13480741|RGD:13518558|RGD:8691465|RGD:8691466|RGD:8691467|RGD:8691468 (Homo sapiens) & RGD:10052840|RGD:10405828|RGD:10408845|RGD:10767457|RGD:11345995|RGD:11348158|RGD:11348334|RGD:11349743|RGD:11547757|RGD:11549597|RGD:11551927|RGD:11578052|RGD:11601455|RGD:11601575|RGD:11602394|RGD:13480296|RGD:13480741|RGD:13518558|RGD:8691465|RGD:8691466|RGD:8691467|RGD:8691468 (Homo sapiens) & RGD:10052840|RGD:10405828|RGD:10408845|RGD:10767457|RGD:11345995|RGD:11348158|RGD:11348334|RGD:11349743|RGD:11547757|RGD:11549597|RGD:11551927|RGD:11578052|RGD:11601455|RGD:11601575|RGD:11602394|RGD:13480296|RGD:13480741|RGD:13518558|RGD:8691465|RGD:8691466|RGD:8691467|RGD:8691468 (Homo sapiens) & RGD:10052840|RGD:10405828|RGD:10408845|RGD:10767457|RGD:11345995|RGD:11348158|RGD:11348334|RGD:11349743|RGD:11547757|RGD:11549597|RGD:11551927|RGD:11578052|RGD:11601455|RGD:11601575|RGD:11602394|RGD:13480296|RGD:13480741|RGD:13518558|RGD:8691465|RGD:8691466|RGD:8691467|RGD:8691468 (Homo sapiens) & RGD:10052840|RGD:10405828|RGD:10408845|RGD:10767457|RGD:11345995|RGD:11348158|RGD:11348334|RGD:11349743|RGD:11547757|RGD:11549597|RGD:11551927|RGD:11578052|RGD:11601455|RGD:11601575|RGD:11602394|RGD:13480296|RGD:13480741|RGD:13518558|RGD:8691465|RGD:8691466|RGD:8691467|RGD:8691468 (Homo sapiens) & RGD:10052840|RGD:10405828|RGD:10408845|RGD:10767457|RGD:11345995|RGD:11348158|RGD:11348334|RGD:11349743|RGD:11547757|RGD:11549597|RGD:11551927|RGD:11578052|RGD:11601455|RGD:11601575|RGD:11602394|RGD:13480296|RGD:13480741|RGD:13518558|RGD:8691465|RGD:8691466|RGD:8691467|RGD:8691468 (Homo sapiens) & RGD:10052840|RGD:10405828|RGD:10408845|RGD:10767457|RGD:11345995|RGD:11348158|RGD:11348334|RGD:11349743|RGD:11547757|RGD:11549597|RGD:11551927|RGD:11578052|RGD:11601455|RGD:11601575|RGD:11602394|RGD:13480296|RGD:13480741|RGD:13518558|RGD:8691465|RGD:8691466|RGD:8691467|RGD:8691468 (Homo sapiens) & RGD:10052840|RGD:10405828|RGD:10408845|RGD:10767457|RGD:11345995|RGD:11348158|RGD:11348334|RGD:11349743|RGD:11547757|RGD:11549597|RGD:11551927|RGD:11578052|RGD:11601455|RGD:11601575|RGD:11602394|RGD:13480296|RGD:13480741|RGD:13518558|RGD:8691465|RGD:8691466|RGD:8691467|RGD:8691468 (Homo sapiens) & RGD:10052840|RGD:10405828|RGD:10408845|RGD:10767457|RGD:11345995|RGD:11348158|RGD:11348334|RGD:11349743|RGD:11547757|RGD:11549597|RGD:11551927|RGD:11578052|RGD:11601455|RGD:11601575|RGD:11602394|RGD:13480296|RGD:13480741|RGD:13518558|RGD:8691465|RGD:8691466|RGD:8691467|RGD:8691468 (Homo sapiens) & RGD:10052840|RGD:10405828|RGD:10408845|RGD:10767457|RGD:11345995|RGD:11348158|RGD:11348334|RGD:11349743|RGD:11547757|RGD:11549597|RGD:11551927|RGD:11578052|RGD:11601455|RGD:11601575|RGD:11602394|RGD:13480296|RGD:13480741|RGD:13518558|RGD:8691465|RGD:8691466|RGD:8691467|RGD:8691468 (Homo sapiens) & RGD:10052840|RGD:10405828|RGD:10408845|RGD:10767457|RGD:11345995|RGD:11348158|RGD:11348334|RGD:11349743|RGD:11547757|RGD:11549597|RGD:11551927|RGD:11578052|RGD:11601455|RGD:11601575|RGD:11602394|RGD:13480296|RGD:13480741|RGD:13518558|RGD:8691465|RGD:8691466|RGD:8691467|RGD:8691468 (Homo sapiens) & RGD:10052840|RGD:10405828|RGD:10408845|RGD:10767457|RGD:11345995|RGD:11348158|RGD:11348334|RGD:11349743|RGD:11547757|RGD:11549597|RGD:11551927|RGD:11578052|RGD:11601455|RGD:11601575|RGD:11602394|RGD:13480296|RGD:13480741|RGD:13518558|RGD:8691465|RGD:8691466|RGD:8691467|RGD:8691468 (Homo sapiens) & RGD:10052840|RGD:10405828|RGD:10408845|RGD:10767457|RGD:11345995|RGD:11348158|RGD:11348334|RGD:11349743|RGD:11547757|RGD:11549597|RGD:11551927|RGD:11578052|RGD:11601455|RGD:11601575|RGD:11602394|RGD:13480296|RGD:13480741|RGD:13518558|RGD:8691465|RGD:8691466|RGD:8691467|RGD:8691468 (Homo sapiens) & RGD:10052840|RGD:10405828|RGD:10408845|RGD:10767457|RGD:11345995|RGD:11348158|RGD:11348334|RGD:11349743|RGD:11547757|RGD:11549597|RGD:11551927|RGD:11578052|RGD:11601455|RGD:11601575|RGD:11602394|RGD:13480296|RGD:13480741|RGD:13518558|RGD:8691465|RGD:8691466|RGD:8691467|RGD:8691468 (Homo sapiens) & RGD:10052840|RGD:10405828|RGD:10408845|RGD:10767457|RGD:11345995|RGD:11348158|RGD:11348334|RGD:11349743|RGD:11547757|RGD:11549597|RGD:11551927|RGD:11578052|RGD:11601455|RGD:11601575|RGD:11602394|RGD:13480296|RGD:13480741|RGD:13518558|RGD:8691465|RGD:8691466|RGD:8691467|RGD:8691468 (Homo sapiens)
  • 2 RGD objects have been annotated to metatropic dysplasia  (DOID:0111514)
  • 5 papers in RGD have been used to annotate TRPV4
  • Curation Notes: ClinVar Annotator: match by term: Metatropic dwarfism | ClinVar Annotator: match by term: Metatropic dysplasia
  • Original References(s): PMID:25741868 PMID:26467025 PMID:28492532


    • An association has been curated linking TRPV4 and metatropic dysplasia 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:11523267|RGD:11599732|RGD:11600923|RGD:11601373|RGD:11612540|RGD:11613464|RGD:11613937|RGD:11614266|RGD:11614435|RGD:11616127|RGD:11617450|RGD:12836278|RGD:13481862|RGD:13541285|RGD:13617639|RGD:13617664|RGD:13807264|RGD:13808475|RGD:13817037|RGD:13818075|RGD:14743735|RGD:28870076|RGD:28871701|RGD:28911116|RGD:28911274 (Homo sapiens) & RGD:11523267|RGD:11599732|RGD:11600923|RGD:11601373|RGD:11612540|RGD:11613464|RGD:11613937|RGD:11614266|RGD:11614435|RGD:11616127|RGD:11617450|RGD:12836278|RGD:13481862|RGD:13541285|RGD:13617639|RGD:13617664|RGD:13807264|RGD:13808475|RGD:13817037|RGD:13818075|RGD:14743735|RGD:28870076|RGD:28871701|RGD:28911116|RGD:28911274 (Homo sapiens) & RGD:11523267|RGD:11599732|RGD:11600923|RGD:11601373|RGD:11612540|RGD:11613464|RGD:11613937|RGD:11614266|RGD:11614435|RGD:11616127|RGD:11617450|RGD:12836278|RGD:13481862|RGD:13541285|RGD:13617639|RGD:13617664|RGD:13807264|RGD:13808475|RGD:13817037|RGD:13818075|RGD:14743735|RGD:28870076|RGD:28871701|RGD:28911116|RGD:28911274 (Homo sapiens) & RGD:11523267|RGD:11599732|RGD:11600923|RGD:11601373|RGD:11612540|RGD:11613464|RGD:11613937|RGD:11614266|RGD:11614435|RGD:11616127|RGD:11617450|RGD:12836278|RGD:13481862|RGD:13541285|RGD:13617639|RGD:13617664|RGD:13807264|RGD:13808475|RGD:13817037|RGD:13818075|RGD:14743735|RGD:28870076|RGD:28871701|RGD:28911116|RGD:28911274 (Homo sapiens) & RGD:11523267|RGD:11599732|RGD:11600923|RGD:11601373|RGD:11612540|RGD:11613464|RGD:11613937|RGD:11614266|RGD:11614435|RGD:11616127|RGD:11617450|RGD:12836278|RGD:13481862|RGD:13541285|RGD:13617639|RGD:13617664|RGD:13807264|RGD:13808475|RGD:13817037|RGD:13818075|RGD:14743735|RGD:28870076|RGD:28871701|RGD:28911116|RGD:28911274 (Homo sapiens) & RGD:11523267|RGD:11599732|RGD:11600923|RGD:11601373|RGD:11612540|RGD:11613464|RGD:11613937|RGD:11614266|RGD:11614435|RGD:11616127|RGD:11617450|RGD:12836278|RGD:13481862|RGD:13541285|RGD:13617639|RGD:13617664|RGD:13807264|RGD:13808475|RGD:13817037|RGD:13818075|RGD:14743735|RGD:28870076|RGD:28871701|RGD:28911116|RGD:28911274 (Homo sapiens) & RGD:11523267|RGD:11599732|RGD:11600923|RGD:11601373|RGD:11612540|RGD:11613464|RGD:11613937|RGD:11614266|RGD:11614435|RGD:11616127|RGD:11617450|RGD:12836278|RGD:13481862|RGD:13541285|RGD:13617639|RGD:13617664|RGD:13807264|RGD:13808475|RGD:13817037|RGD:13818075|RGD:14743735|RGD:28870076|RGD:28871701|RGD:28911116|RGD:28911274 (Homo sapiens) & RGD:11523267|RGD:11599732|RGD:11600923|RGD:11601373|RGD:11612540|RGD:11613464|RGD:11613937|RGD:11614266|RGD:11614435|RGD:11616127|RGD:11617450|RGD:12836278|RGD:13481862|RGD:13541285|RGD:13617639|RGD:13617664|RGD:13807264|RGD:13808475|RGD:13817037|RGD:13818075|RGD:14743735|RGD:28870076|RGD:28871701|RGD:28911116|RGD:28911274 (Homo sapiens) & RGD:11523267|RGD:11599732|RGD:11600923|RGD:11601373|RGD:11612540|RGD:11613464|RGD:11613937|RGD:11614266|RGD:11614435|RGD:11616127|RGD:11617450|RGD:12836278|RGD:13481862|RGD:13541285|RGD:13617639|RGD:13617664|RGD:13807264|RGD:13808475|RGD:13817037|RGD:13818075|RGD:14743735|RGD:28870076|RGD:28871701|RGD:28911116|RGD:28911274 (Homo sapiens) & RGD:11523267|RGD:11599732|RGD:11600923|RGD:11601373|RGD:11612540|RGD:11613464|RGD:11613937|RGD:11614266|RGD:11614435|RGD:11616127|RGD:11617450|RGD:12836278|RGD:13481862|RGD:13541285|RGD:13617639|RGD:13617664|RGD:13807264|RGD:13808475|RGD:13817037|RGD:13818075|RGD:14743735|RGD:28870076|RGD:28871701|RGD:28911116|RGD:28911274 (Homo sapiens) & RGD:11523267|RGD:11599732|RGD:11600923|RGD:11601373|RGD:11612540|RGD:11613464|RGD:11613937|RGD:11614266|RGD:11614435|RGD:11616127|RGD:11617450|RGD:12836278|RGD:13481862|RGD:13541285|RGD:13617639|RGD:13617664|RGD:13807264|RGD:13808475|RGD:13817037|RGD:13818075|RGD:14743735|RGD:28870076|RGD:28871701|RGD:28911116|RGD:28911274 (Homo sapiens) & RGD:11523267|RGD:11599732|RGD:11600923|RGD:11601373|RGD:11612540|RGD:11613464|RGD:11613937|RGD:11614266|RGD:11614435|RGD:11616127|RGD:11617450|RGD:12836278|RGD:13481862|RGD:13541285|RGD:13617639|RGD:13617664|RGD:13807264|RGD:13808475|RGD:13817037|RGD:13818075|RGD:14743735|RGD:28870076|RGD:28871701|RGD:28911116|RGD:28911274 (Homo sapiens) & RGD:11523267|RGD:11599732|RGD:11600923|RGD:11601373|RGD:11612540|RGD:11613464|RGD:11613937|RGD:11614266|RGD:11614435|RGD:11616127|RGD:11617450|RGD:12836278|RGD:13481862|RGD:13541285|RGD:13617639|RGD:13617664|RGD:13807264|RGD:13808475|RGD:13817037|RGD:13818075|RGD:14743735|RGD:28870076|RGD:28871701|RGD:28911116|RGD:28911274 (Homo sapiens) & RGD:11523267|RGD:11599732|RGD:11600923|RGD:11601373|RGD:11612540|RGD:11613464|RGD:11613937|RGD:11614266|RGD:11614435|RGD:11616127|RGD:11617450|RGD:12836278|RGD:13481862|RGD:13541285|RGD:13617639|RGD:13617664|RGD:13807264|RGD:13808475|RGD:13817037|RGD:13818075|RGD:14743735|RGD:28870076|RGD:28871701|RGD:28911116|RGD:28911274 (Homo sapiens) & RGD:11523267|RGD:11599732|RGD:11600923|RGD:11601373|RGD:11612540|RGD:11613464|RGD:11613937|RGD:11614266|RGD:11614435|RGD:11616127|RGD:11617450|RGD:12836278|RGD:13481862|RGD:13541285|RGD:13617639|RGD:13617664|RGD:13807264|RGD:13808475|RGD:13817037|RGD:13818075|RGD:14743735|RGD:28870076|RGD:28871701|RGD:28911116|RGD:28911274 (Homo sapiens) & RGD:11523267|RGD:11599732|RGD:11600923|RGD:11601373|RGD:11612540|RGD:11613464|RGD:11613937|RGD:11614266|RGD:11614435|RGD:11616127|RGD:11617450|RGD:12836278|RGD:13481862|RGD:13541285|RGD:13617639|RGD:13617664|RGD:13807264|RGD:13808475|RGD:13817037|RGD:13818075|RGD:14743735|RGD:28870076|RGD:28871701|RGD:28911116|RGD:28911274 (Homo sapiens) & RGD:11523267|RGD:11599732|RGD:11600923|RGD:11601373|RGD:11612540|RGD:11613464|RGD:11613937|RGD:11614266|RGD:11614435|RGD:11616127|RGD:11617450|RGD:12836278|RGD:13481862|RGD:13541285|RGD:13617639|RGD:13617664|RGD:13807264|RGD:13808475|RGD:13817037|RGD:13818075|RGD:14743735|RGD:28870076|RGD:28871701|RGD:28911116|RGD:28911274 (Homo sapiens) & RGD:11523267|RGD:11599732|RGD:11600923|RGD:11601373|RGD:11612540|RGD:11613464|RGD:11613937|RGD:11614266|RGD:11614435|RGD:11616127|RGD:11617450|RGD:12836278|RGD:13481862|RGD:13541285|RGD:13617639|RGD:13617664|RGD:13807264|RGD:13808475|RGD:13817037|RGD:13818075|RGD:14743735|RGD:28870076|RGD:28871701|RGD:28911116|RGD:28911274 (Homo sapiens) & RGD:11523267|RGD:11599732|RGD:11600923|RGD:11601373|RGD:11612540|RGD:11613464|RGD:11613937|RGD:11614266|RGD:11614435|RGD:11616127|RGD:11617450|RGD:12836278|RGD:13481862|RGD:13541285|RGD:13617639|RGD:13617664|RGD:13807264|RGD:13808475|RGD:13817037|RGD:13818075|RGD:14743735|RGD:28870076|RGD:28871701|RGD:28911116|RGD:28911274 (Homo sapiens) & RGD:11523267|RGD:11599732|RGD:11600923|RGD:11601373|RGD:11612540|RGD:11613464|RGD:11613937|RGD:11614266|RGD:11614435|RGD:11616127|RGD:11617450|RGD:12836278|RGD:13481862|RGD:13541285|RGD:13617639|RGD:13617664|RGD:13807264|RGD:13808475|RGD:13817037|RGD:13818075|RGD:14743735|RGD:28870076|RGD:28871701|RGD:28911116|RGD:28911274 (Homo sapiens) & RGD:11523267|RGD:11599732|RGD:11600923|RGD:11601373|RGD:11612540|RGD:11613464|RGD:11613937|RGD:11614266|RGD:11614435|RGD:11616127|RGD:11617450|RGD:12836278|RGD:13481862|RGD:13541285|RGD:13617639|RGD:13617664|RGD:13807264|RGD:13808475|RGD:13817037|RGD:13818075|RGD:14743735|RGD:28870076|RGD:28871701|RGD:28911116|RGD:28911274 (Homo sapiens) & RGD:11523267|RGD:11599732|RGD:11600923|RGD:11601373|RGD:11612540|RGD:11613464|RGD:11613937|RGD:11614266|RGD:11614435|RGD:11616127|RGD:11617450|RGD:12836278|RGD:13481862|RGD:13541285|RGD:13617639|RGD:13617664|RGD:13807264|RGD:13808475|RGD:13817037|RGD:13818075|RGD:14743735|RGD:28870076|RGD:28871701|RGD:28911116|RGD:28911274 (Homo sapiens) & RGD:11523267|RGD:11599732|RGD:11600923|RGD:11601373|RGD:11612540|RGD:11613464|RGD:11613937|RGD:11614266|RGD:11614435|RGD:11616127|RGD:11617450|RGD:12836278|RGD:13481862|RGD:13541285|RGD:13617639|RGD:13617664|RGD:13807264|RGD:13808475|RGD:13817037|RGD:13818075|RGD:14743735|RGD:28870076|RGD:28871701|RGD:28911116|RGD:28911274 (Homo sapiens) & RGD:11523267|RGD:11599732|RGD:11600923|RGD:11601373|RGD:11612540|RGD:11613464|RGD:11613937|RGD:11614266|RGD:11614435|RGD:11616127|RGD:11617450|RGD:12836278|RGD:13481862|RGD:13541285|RGD:13617639|RGD:13617664|RGD:13807264|RGD:13808475|RGD:13817037|RGD:13818075|RGD:14743735|RGD:28870076|RGD:28871701|RGD:28911116|RGD:28911274 (Homo sapiens) & RGD:11523267|RGD:11599732|RGD:11600923|RGD:11601373|RGD:11612540|RGD:11613464|RGD:11613937|RGD:11614266|RGD:11614435|RGD:11616127|RGD:11617450|RGD:12836278|RGD:13481862|RGD:13541285|RGD:13617639|RGD:13617664|RGD:13807264|RGD:13808475|RGD:13817037|RGD:13818075|RGD:14743735|RGD:28870076|RGD:28871701|RGD:28911116|RGD:28911274 (Homo sapiens)
  • 2 RGD objects have been annotated to metatropic dysplasia  (DOID:0111514)
  • 5 papers in RGD have been used to annotate TRPV4
  • Curation Notes: ClinVar Annotator: match by term: Metatropic dysplasia
  • Original References(s): PMID:28492532


    • An association has been curated linking TRPV4 and metatropic dysplasia 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:11523166 (Homo sapiens)
  • 2 RGD objects have been annotated to metatropic dysplasia  (DOID:0111514)
  • 5 papers in RGD have been used to annotate TRPV4
  • Curation Notes: ClinVar Annotator: match by term: Metatropic dwarfism
  • Original References(s): PMID:26467025 PMID:28492532 PMID:31475037


    • An association has been curated linking TRPV4 and metatropic dysplasia 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:13478953 (Homo sapiens)
  • 2 RGD objects have been annotated to metatropic dysplasia  (DOID:0111514)
  • 5 papers in RGD have been used to annotate TRPV4
  • Curation Notes: ClinVar Annotator: match by term: Metatropic dysplasia
  • Original References(s): PMID:19661060 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32376792


    • An association has been curated linking TRPV4 and metatropic dysplasia 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:10450044 (Homo sapiens)
  • 2 RGD objects have been annotated to metatropic dysplasia  (DOID:0111514)
  • 5 papers in RGD have been used to annotate TRPV4
  • Curation Notes: ClinVar Annotator: match by term: Metatropic dysplasia
  • Original References(s): PMID:20425821 PMID:20577006 PMID:21573172 PMID:22791502 PMID:25741868 PMID:28492532


    • An association has been curated linking TRPV4 and metatropic dysplasia 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:11601605|RGD:11602404|RGD:11603302|RGD:11612660|RGD:11614174|RGD:11615501|RGD:11616296|RGD:11645079|RGD:11645366|RGD:11647794|RGD:11651088|RGD:11652921|RGD:11653243|RGD:11665956|RGD:14350077|RGD:28869087|RGD:28869392|RGD:28869396|RGD:28869655|RGD:28871897|RGD:28872111|RGD:28872306|RGD:28872314|RGD:28910422|RGD:28911070|RGD:28911273|RGD:28911380|RGD:28911750|RGD:39457241|RGD:401865430 (Homo sapiens) & RGD:11601605|RGD:11602404|RGD:11603302|RGD:11612660|RGD:11614174|RGD:11615501|RGD:11616296|RGD:11645079|RGD:11645366|RGD:11647794|RGD:11651088|RGD:11652921|RGD:11653243|RGD:11665956|RGD:14350077|RGD:28869087|RGD:28869392|RGD:28869396|RGD:28869655|RGD:28871897|RGD:28872111|RGD:28872306|RGD:28872314|RGD:28910422|RGD:28911070|RGD:28911273|RGD:28911380|RGD:28911750|RGD:39457241|RGD:401865430 (Homo sapiens) & RGD:11601605|RGD:11602404|RGD:11603302|RGD:11612660|RGD:11614174|RGD:11615501|RGD:11616296|RGD:11645079|RGD:11645366|RGD:11647794|RGD:11651088|RGD:11652921|RGD:11653243|RGD:11665956|RGD:14350077|RGD:28869087|RGD:28869392|RGD:28869396|RGD:28869655|RGD:28871897|RGD:28872111|RGD:28872306|RGD:28872314|RGD:28910422|RGD:28911070|RGD:28911273|RGD:28911380|RGD:28911750|RGD:39457241|RGD:401865430 (Homo sapiens) & RGD:11601605|RGD:11602404|RGD:11603302|RGD:11612660|RGD:11614174|RGD:11615501|RGD:11616296|RGD:11645079|RGD:11645366|RGD:11647794|RGD:11651088|RGD:11652921|RGD:11653243|RGD:11665956|RGD:14350077|RGD:28869087|RGD:28869392|RGD:28869396|RGD:28869655|RGD:28871897|RGD:28872111|RGD:28872306|RGD:28872314|RGD:28910422|RGD:28911070|RGD:28911273|RGD:28911380|RGD:28911750|RGD:39457241|RGD:401865430 (Homo sapiens) & RGD:11601605|RGD:11602404|RGD:11603302|RGD:11612660|RGD:11614174|RGD:11615501|RGD:11616296|RGD:11645079|RGD:11645366|RGD:11647794|RGD:11651088|RGD:11652921|RGD:11653243|RGD:11665956|RGD:14350077|RGD:28869087|RGD:28869392|RGD:28869396|RGD:28869655|RGD:28871897|RGD:28872111|RGD:28872306|RGD:28872314|RGD:28910422|RGD:28911070|RGD:28911273|RGD:28911380|RGD:28911750|RGD:39457241|RGD:401865430 (Homo sapiens) & RGD:11601605|RGD:11602404|RGD:11603302|RGD:11612660|RGD:11614174|RGD:11615501|RGD:11616296|RGD:11645079|RGD:11645366|RGD:11647794|RGD:11651088|RGD:11652921|RGD:11653243|RGD:11665956|RGD:14350077|RGD:28869087|RGD:28869392|RGD:28869396|RGD:28869655|RGD:28871897|RGD:28872111|RGD:28872306|RGD:28872314|RGD:28910422|RGD:28911070|RGD:28911273|RGD:28911380|RGD:28911750|RGD:39457241|RGD:401865430 (Homo sapiens) & RGD:11601605|RGD:11602404|RGD:11603302|RGD:11612660|RGD:11614174|RGD:11615501|RGD:11616296|RGD:11645079|RGD:11645366|RGD:11647794|RGD:11651088|RGD:11652921|RGD:11653243|RGD:11665956|RGD:14350077|RGD:28869087|RGD:28869392|RGD:28869396|RGD:28869655|RGD:28871897|RGD:28872111|RGD:28872306|RGD:28872314|RGD:28910422|RGD:28911070|RGD:28911273|RGD:28911380|RGD:28911750|RGD:39457241|RGD:401865430 (Homo sapiens) & RGD:11601605|RGD:11602404|RGD:11603302|RGD:11612660|RGD:11614174|RGD:11615501|RGD:11616296|RGD:11645079|RGD:11645366|RGD:11647794|RGD:11651088|RGD:11652921|RGD:11653243|RGD:11665956|RGD:14350077|RGD:28869087|RGD:28869392|RGD:28869396|RGD:28869655|RGD:28871897|RGD:28872111|RGD:28872306|RGD:28872314|RGD:28910422|RGD:28911070|RGD:28911273|RGD:28911380|RGD:28911750|RGD:39457241|RGD:401865430 (Homo sapiens) & RGD:11601605|RGD:11602404|RGD:11603302|RGD:11612660|RGD:11614174|RGD:11615501|RGD:11616296|RGD:11645079|RGD:11645366|RGD:11647794|RGD:11651088|RGD:11652921|RGD:11653243|RGD:11665956|RGD:14350077|RGD:28869087|RGD:28869392|RGD:28869396|RGD:28869655|RGD:28871897|RGD:28872111|RGD:28872306|RGD:28872314|RGD:28910422|RGD:28911070|RGD:28911273|RGD:28911380|RGD:28911750|RGD:39457241|RGD:401865430 (Homo sapiens) & RGD:11601605|RGD:11602404|RGD:11603302|RGD:11612660|RGD:11614174|RGD:11615501|RGD:11616296|RGD:11645079|RGD:11645366|RGD:11647794|RGD:11651088|RGD:11652921|RGD:11653243|RGD:11665956|RGD:14350077|RGD:28869087|RGD:28869392|RGD:28869396|RGD:28869655|RGD:28871897|RGD:28872111|RGD:28872306|RGD:28872314|RGD:28910422|RGD:28911070|RGD:28911273|RGD:28911380|RGD:28911750|RGD:39457241|RGD:401865430 (Homo sapiens) & RGD:11601605|RGD:11602404|RGD:11603302|RGD:11612660|RGD:11614174|RGD:11615501|RGD:11616296|RGD:11645079|RGD:11645366|RGD:11647794|RGD:11651088|RGD:11652921|RGD:11653243|RGD:11665956|RGD:14350077|RGD:28869087|RGD:28869392|RGD:28869396|RGD:28869655|RGD:28871897|RGD:28872111|RGD:28872306|RGD:28872314|RGD:28910422|RGD:28911070|RGD:28911273|RGD:28911380|RGD:28911750|RGD:39457241|RGD:401865430 (Homo sapiens) & RGD:11601605|RGD:11602404|RGD:11603302|RGD:11612660|RGD:11614174|RGD:11615501|RGD:11616296|RGD:11645079|RGD:11645366|RGD:11647794|RGD:11651088|RGD:11652921|RGD:11653243|RGD:11665956|RGD:14350077|RGD:28869087|RGD:28869392|RGD:28869396|RGD:28869655|RGD:28871897|RGD:28872111|RGD:28872306|RGD:28872314|RGD:28910422|RGD:28911070|RGD:28911273|RGD:28911380|RGD:28911750|RGD:39457241|RGD:401865430 (Homo sapiens) & RGD:11601605|RGD:11602404|RGD:11603302|RGD:11612660|RGD:11614174|RGD:11615501|RGD:11616296|RGD:11645079|RGD:11645366|RGD:11647794|RGD:11651088|RGD:11652921|RGD:11653243|RGD:11665956|RGD:14350077|RGD:28869087|RGD:28869392|RGD:28869396|RGD:28869655|RGD:28871897|RGD:28872111|RGD:28872306|RGD:28872314|RGD:28910422|RGD:28911070|RGD:28911273|RGD:28911380|RGD:28911750|RGD:39457241|RGD:401865430 (Homo sapiens) & RGD:11601605|RGD:11602404|RGD:11603302|RGD:11612660|RGD:11614174|RGD:11615501|RGD:11616296|RGD:11645079|RGD:11645366|RGD:11647794|RGD:11651088|RGD:11652921|RGD:11653243|RGD:11665956|RGD:14350077|RGD:28869087|RGD:28869392|RGD:28869396|RGD:28869655|RGD:28871897|RGD:28872111|RGD:28872306|RGD:28872314|RGD:28910422|RGD:28911070|RGD:28911273|RGD:28911380|RGD:28911750|RGD:39457241|RGD:401865430 (Homo sapiens) & RGD:11601605|RGD:11602404|RGD:11603302|RGD:11612660|RGD:11614174|RGD:11615501|RGD:11616296|RGD:11645079|RGD:11645366|RGD:11647794|RGD:11651088|RGD:11652921|RGD:11653243|RGD:11665956|RGD:14350077|RGD:28869087|RGD:28869392|RGD:28869396|RGD:28869655|RGD:28871897|RGD:28872111|RGD:28872306|RGD:28872314|RGD:28910422|RGD:28911070|RGD:28911273|RGD:28911380|RGD:28911750|RGD:39457241|RGD:401865430 (Homo sapiens) & RGD:11601605|RGD:11602404|RGD:11603302|RGD:11612660|RGD:11614174|RGD:11615501|RGD:11616296|RGD:11645079|RGD:11645366|RGD:11647794|RGD:11651088|RGD:11652921|RGD:11653243|RGD:11665956|RGD:14350077|RGD:28869087|RGD:28869392|RGD:28869396|RGD:28869655|RGD:28871897|RGD:28872111|RGD:28872306|RGD:28872314|RGD:28910422|RGD:28911070|RGD:28911273|RGD:28911380|RGD:28911750|RGD:39457241|RGD:401865430 (Homo sapiens) & RGD:11601605|RGD:11602404|RGD:11603302|RGD:11612660|RGD:11614174|RGD:11615501|RGD:11616296|RGD:11645079|RGD:11645366|RGD:11647794|RGD:11651088|RGD:11652921|RGD:11653243|RGD:11665956|RGD:14350077|RGD:28869087|RGD:28869392|RGD:28869396|RGD:28869655|RGD:28871897|RGD:28872111|RGD:28872306|RGD:28872314|RGD:28910422|RGD:28911070|RGD:28911273|RGD:28911380|RGD:28911750|RGD:39457241|RGD:401865430 (Homo sapiens) & RGD:11601605|RGD:11602404|RGD:11603302|RGD:11612660|RGD:11614174|RGD:11615501|RGD:11616296|RGD:11645079|RGD:11645366|RGD:11647794|RGD:11651088|RGD:11652921|RGD:11653243|RGD:11665956|RGD:14350077|RGD:28869087|RGD:28869392|RGD:28869396|RGD:28869655|RGD:28871897|RGD:28872111|RGD:28872306|RGD:28872314|RGD:28910422|RGD:28911070|RGD:28911273|RGD:28911380|RGD:28911750|RGD:39457241|RGD:401865430 (Homo sapiens) & RGD:11601605|RGD:11602404|RGD:11603302|RGD:11612660|RGD:11614174|RGD:11615501|RGD:11616296|RGD:11645079|RGD:11645366|RGD:11647794|RGD:11651088|RGD:11652921|RGD:11653243|RGD:11665956|RGD:14350077|RGD:28869087|RGD:28869392|RGD:28869396|RGD:28869655|RGD:28871897|RGD:28872111|RGD:28872306|RGD:28872314|RGD:28910422|RGD:28911070|RGD:28911273|RGD:28911380|RGD:28911750|RGD:39457241|RGD:401865430 (Homo sapiens) & RGD:11601605|RGD:11602404|RGD:11603302|RGD:11612660|RGD:11614174|RGD:11615501|RGD:11616296|RGD:11645079|RGD:11645366|RGD:11647794|RGD:11651088|RGD:11652921|RGD:11653243|RGD:11665956|RGD:14350077|RGD:28869087|RGD:28869392|RGD:28869396|RGD:28869655|RGD:28871897|RGD:28872111|RGD:28872306|RGD:28872314|RGD:28910422|RGD:28911070|RGD:28911273|RGD:28911380|RGD:28911750|RGD:39457241|RGD:401865430 (Homo sapiens) & RGD:11601605|RGD:11602404|RGD:11603302|RGD:11612660|RGD:11614174|RGD:11615501|RGD:11616296|RGD:11645079|RGD:11645366|RGD:11647794|RGD:11651088|RGD:11652921|RGD:11653243|RGD:11665956|RGD:14350077|RGD:28869087|RGD:28869392|RGD:28869396|RGD:28869655|RGD:28871897|RGD:28872111|RGD:28872306|RGD:28872314|RGD:28910422|RGD:28911070|RGD:28911273|RGD:28911380|RGD:28911750|RGD:39457241|RGD:401865430 (Homo sapiens) & RGD:11601605|RGD:11602404|RGD:11603302|RGD:11612660|RGD:11614174|RGD:11615501|RGD:11616296|RGD:11645079|RGD:11645366|RGD:11647794|RGD:11651088|RGD:11652921|RGD:11653243|RGD:11665956|RGD:14350077|RGD:28869087|RGD:28869392|RGD:28869396|RGD:28869655|RGD:28871897|RGD:28872111|RGD:28872306|RGD:28872314|RGD:28910422|RGD:28911070|RGD:28911273|RGD:28911380|RGD:28911750|RGD:39457241|RGD:401865430 (Homo sapiens) & RGD:11601605|RGD:11602404|RGD:11603302|RGD:11612660|RGD:11614174|RGD:11615501|RGD:11616296|RGD:11645079|RGD:11645366|RGD:11647794|RGD:11651088|RGD:11652921|RGD:11653243|RGD:11665956|RGD:14350077|RGD:28869087|RGD:28869392|RGD:28869396|RGD:28869655|RGD:28871897|RGD:28872111|RGD:28872306|RGD:28872314|RGD:28910422|RGD:28911070|RGD:28911273|RGD:28911380|RGD:28911750|RGD:39457241|RGD:401865430 (Homo sapiens) & RGD:11601605|RGD:11602404|RGD:11603302|RGD:11612660|RGD:11614174|RGD:11615501|RGD:11616296|RGD:11645079|RGD:11645366|RGD:11647794|RGD:11651088|RGD:11652921|RGD:11653243|RGD:11665956|RGD:14350077|RGD:28869087|RGD:28869392|RGD:28869396|RGD:28869655|RGD:28871897|RGD:28872111|RGD:28872306|RGD:28872314|RGD:28910422|RGD:28911070|RGD:28911273|RGD:28911380|RGD:28911750|RGD:39457241|RGD:401865430 (Homo sapiens) & RGD:11601605|RGD:11602404|RGD:11603302|RGD:11612660|RGD:11614174|RGD:11615501|RGD:11616296|RGD:11645079|RGD:11645366|RGD:11647794|RGD:11651088|RGD:11652921|RGD:11653243|RGD:11665956|RGD:14350077|RGD:28869087|RGD:28869392|RGD:28869396|RGD:28869655|RGD:28871897|RGD:28872111|RGD:28872306|RGD:28872314|RGD:28910422|RGD:28911070|RGD:28911273|RGD:28911380|RGD:28911750|RGD:39457241|RGD:401865430 (Homo sapiens) & RGD:11601605|RGD:11602404|RGD:11603302|RGD:11612660|RGD:11614174|RGD:11615501|RGD:11616296|RGD:11645079|RGD:11645366|RGD:11647794|RGD:11651088|RGD:11652921|RGD:11653243|RGD:11665956|RGD:14350077|RGD:28869087|RGD:28869392|RGD:28869396|RGD:28869655|RGD:28871897|RGD:28872111|RGD:28872306|RGD:28872314|RGD:28910422|RGD:28911070|RGD:28911273|RGD:28911380|RGD:28911750|RGD:39457241|RGD:401865430 (Homo sapiens) & RGD:11601605|RGD:11602404|RGD:11603302|RGD:11612660|RGD:11614174|RGD:11615501|RGD:11616296|RGD:11645079|RGD:11645366|RGD:11647794|RGD:11651088|RGD:11652921|RGD:11653243|RGD:11665956|RGD:14350077|RGD:28869087|RGD:28869392|RGD:28869396|RGD:28869655|RGD:28871897|RGD:28872111|RGD:28872306|RGD:28872314|RGD:28910422|RGD:28911070|RGD:28911273|RGD:28911380|RGD:28911750|RGD:39457241|RGD:401865430 (Homo sapiens) & RGD:11601605|RGD:11602404|RGD:11603302|RGD:11612660|RGD:11614174|RGD:11615501|RGD:11616296|RGD:11645079|RGD:11645366|RGD:11647794|RGD:11651088|RGD:11652921|RGD:11653243|RGD:11665956|RGD:14350077|RGD:28869087|RGD:28869392|RGD:28869396|RGD:28869655|RGD:28871897|RGD:28872111|RGD:28872306|RGD:28872314|RGD:28910422|RGD:28911070|RGD:28911273|RGD:28911380|RGD:28911750|RGD:39457241|RGD:401865430 (Homo sapiens) & RGD:11601605|RGD:11602404|RGD:11603302|RGD:11612660|RGD:11614174|RGD:11615501|RGD:11616296|RGD:11645079|RGD:11645366|RGD:11647794|RGD:11651088|RGD:11652921|RGD:11653243|RGD:11665956|RGD:14350077|RGD:28869087|RGD:28869392|RGD:28869396|RGD:28869655|RGD:28871897|RGD:28872111|RGD:28872306|RGD:28872314|RGD:28910422|RGD:28911070|RGD:28911273|RGD:28911380|RGD:28911750|RGD:39457241|RGD:401865430 (Homo sapiens) & RGD:11601605|RGD:11602404|RGD:11603302|RGD:11612660|RGD:11614174|RGD:11615501|RGD:11616296|RGD:11645079|RGD:11645366|RGD:11647794|RGD:11651088|RGD:11652921|RGD:11653243|RGD:11665956|RGD:14350077|RGD:28869087|RGD:28869392|RGD:28869396|RGD:28869655|RGD:28871897|RGD:28872111|RGD:28872306|RGD:28872314|RGD:28910422|RGD:28911070|RGD:28911273|RGD:28911380|RGD:28911750|RGD:39457241|RGD:401865430 (Homo sapiens)
  • 2 RGD objects have been annotated to metatropic dysplasia  (DOID:0111514)
  • 5 papers in RGD have been used to annotate TRPV4
  • Curation Notes: ClinVar Annotator: match by term: Metatropic dysplasia


    • An association has been curated linking TRPV4 and metatropic dysplasia 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:13482197|RGD:28869089 (Homo sapiens) & RGD:13482197|RGD:28869089 (Homo sapiens)
  • 2 RGD objects have been annotated to metatropic dysplasia  (DOID:0111514)
  • 5 papers in RGD have been used to annotate TRPV4
  • Curation Notes: ClinVar Annotator: match by term: Metatropic dysplasia
  • Original References(s): PMID:25741868 PMID:28492532 PMID:32376792


    • An association has been curated linking TRPV4 and metatropic dysplasia 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:11523547|RGD:11617311|RGD:12900079|RGD:151351356|RGD:152984354|RGD:152984355 (Homo sapiens) & RGD:11523547|RGD:11617311|RGD:12900079|RGD:151351356|RGD:152984354|RGD:152984355 (Homo sapiens) & RGD:11523547|RGD:11617311|RGD:12900079|RGD:151351356|RGD:152984354|RGD:152984355 (Homo sapiens) & RGD:11523547|RGD:11617311|RGD:12900079|RGD:151351356|RGD:152984354|RGD:152984355 (Homo sapiens) & RGD:11523547|RGD:11617311|RGD:12900079|RGD:151351356|RGD:152984354|RGD:152984355 (Homo sapiens) & RGD:11523547|RGD:11617311|RGD:12900079|RGD:151351356|RGD:152984354|RGD:152984355 (Homo sapiens)
  • 2 RGD objects have been annotated to metatropic dysplasia  (DOID:0111514)
  • 5 papers in RGD have been used to annotate TRPV4
  • Curation Notes: ClinVar Annotator: match by term: Metatropic dwarfism | ClinVar Annotator: match by term: Metatropic dysplasia
  • Original References(s): PMID:25741868


    • An association has been curated linking TRPV4 and metatropic dysplasia 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:8602235|RGD:8602236|RGD:8602237 (Homo sapiens) & RGD:8602235|RGD:8602236|RGD:8602237 (Homo sapiens) & RGD:8602235|RGD:8602236|RGD:8602237 (Homo sapiens)
  • 2 RGD objects have been annotated to metatropic dysplasia  (DOID:0111514)
  • 5 papers in RGD have been used to annotate TRPV4
  • Curation Notes: ClinVar Annotator: match by term: Metatropic dysplasia
  • Original References(s): PMID:21964829


    • An association has been curated linking TRPV4 and metatropic dysplasia 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:10048197|RGD:10767571 (Homo sapiens) & RGD:10048197|RGD:10767571 (Homo sapiens)
  • 2 RGD objects have been annotated to metatropic dysplasia  (DOID:0111514)
  • 5 papers in RGD have been used to annotate TRPV4
  • Curation Notes: ClinVar Annotator: match by term: Metatropic dysplasia
  • Original References(s): PMID:22851605 PMID:25741868 PMID:26467025 PMID:28492532


    • An association has been curated linking TRPV4 and metatropic dysplasia 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:8596648|RGD:8596650 (Homo sapiens) & RGD:8596648|RGD:8596650 (Homo sapiens)
  • 2 RGD objects have been annotated to metatropic dysplasia  (DOID:0111514)
  • 5 papers in RGD have been used to annotate TRPV4
  • Curation Notes: ClinVar Annotator: match by term: Metatropic dysplasia
  • Original References(s): PMID:20577006


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