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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking LOC130058566 and Desbuquois Dysplasia 1 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:13624338 (Homo sapiens)
  • 25 RGD objects have been annotated to Desbuquois Dysplasia 1  (DOID:9007521)
  • 0 papers in RGD have been used to annotate LOC130058566
  • Curation Notes: ClinVar Annotator: match by term: Desbuquois dysplasia 1
  • Original References(s): PMID:26601923 PMID:28492532


    • An association has been curated linking LOC130058566 and Desbuquois Dysplasia 1 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:151883878 (Homo sapiens)
  • 25 RGD objects have been annotated to Desbuquois Dysplasia 1  (DOID:9007521)
  • 0 papers in RGD have been used to annotate LOC130058566
  • Curation Notes: ClinVar Annotator: match by term: Desbuquois dysplasia 1
  • Original References(s): PMID:28492532 PMID:31785789


    • An association has been curated linking LOC130058566 and Desbuquois Dysplasia 1 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:126740710|RGD:126756095|RGD:151794958|RGD:151813680|RGD:151885564|RGD:151888253|RGD:152111081|RGD:152119169|RGD:155944679|RGD:155957524|RGD:155998998|RGD:156028049|RGD:156073568|RGD:156297795|RGD:156309307|RGD:156361692|RGD:156394279|RGD:26888972|RGD:26904554|RGD:404992342 (Homo sapiens) & RGD:126740710|RGD:126756095|RGD:151794958|RGD:151813680|RGD:151885564|RGD:151888253|RGD:152111081|RGD:152119169|RGD:155944679|RGD:155957524|RGD:155998998|RGD:156028049|RGD:156073568|RGD:156297795|RGD:156309307|RGD:156361692|RGD:156394279|RGD:26888972|RGD:26904554|RGD:404992342 (Homo sapiens) & RGD:126740710|RGD:126756095|RGD:151794958|RGD:151813680|RGD:151885564|RGD:151888253|RGD:152111081|RGD:152119169|RGD:155944679|RGD:155957524|RGD:155998998|RGD:156028049|RGD:156073568|RGD:156297795|RGD:156309307|RGD:156361692|RGD:156394279|RGD:26888972|RGD:26904554|RGD:404992342 (Homo sapiens) & RGD:126740710|RGD:126756095|RGD:151794958|RGD:151813680|RGD:151885564|RGD:151888253|RGD:152111081|RGD:152119169|RGD:155944679|RGD:155957524|RGD:155998998|RGD:156028049|RGD:156073568|RGD:156297795|RGD:156309307|RGD:156361692|RGD:156394279|RGD:26888972|RGD:26904554|RGD:404992342 (Homo sapiens) & RGD:126740710|RGD:126756095|RGD:151794958|RGD:151813680|RGD:151885564|RGD:151888253|RGD:152111081|RGD:152119169|RGD:155944679|RGD:155957524|RGD:155998998|RGD:156028049|RGD:156073568|RGD:156297795|RGD:156309307|RGD:156361692|RGD:156394279|RGD:26888972|RGD:26904554|RGD:404992342 (Homo sapiens) & RGD:126740710|RGD:126756095|RGD:151794958|RGD:151813680|RGD:151885564|RGD:151888253|RGD:152111081|RGD:152119169|RGD:155944679|RGD:155957524|RGD:155998998|RGD:156028049|RGD:156073568|RGD:156297795|RGD:156309307|RGD:156361692|RGD:156394279|RGD:26888972|RGD:26904554|RGD:404992342 (Homo sapiens) & RGD:126740710|RGD:126756095|RGD:151794958|RGD:151813680|RGD:151885564|RGD:151888253|RGD:152111081|RGD:152119169|RGD:155944679|RGD:155957524|RGD:155998998|RGD:156028049|RGD:156073568|RGD:156297795|RGD:156309307|RGD:156361692|RGD:156394279|RGD:26888972|RGD:26904554|RGD:404992342 (Homo sapiens) & RGD:126740710|RGD:126756095|RGD:151794958|RGD:151813680|RGD:151885564|RGD:151888253|RGD:152111081|RGD:152119169|RGD:155944679|RGD:155957524|RGD:155998998|RGD:156028049|RGD:156073568|RGD:156297795|RGD:156309307|RGD:156361692|RGD:156394279|RGD:26888972|RGD:26904554|RGD:404992342 (Homo sapiens) & RGD:126740710|RGD:126756095|RGD:151794958|RGD:151813680|RGD:151885564|RGD:151888253|RGD:152111081|RGD:152119169|RGD:155944679|RGD:155957524|RGD:155998998|RGD:156028049|RGD:156073568|RGD:156297795|RGD:156309307|RGD:156361692|RGD:156394279|RGD:26888972|RGD:26904554|RGD:404992342 (Homo sapiens) & RGD:126740710|RGD:126756095|RGD:151794958|RGD:151813680|RGD:151885564|RGD:151888253|RGD:152111081|RGD:152119169|RGD:155944679|RGD:155957524|RGD:155998998|RGD:156028049|RGD:156073568|RGD:156297795|RGD:156309307|RGD:156361692|RGD:156394279|RGD:26888972|RGD:26904554|RGD:404992342 (Homo sapiens) & RGD:126740710|RGD:126756095|RGD:151794958|RGD:151813680|RGD:151885564|RGD:151888253|RGD:152111081|RGD:152119169|RGD:155944679|RGD:155957524|RGD:155998998|RGD:156028049|RGD:156073568|RGD:156297795|RGD:156309307|RGD:156361692|RGD:156394279|RGD:26888972|RGD:26904554|RGD:404992342 (Homo sapiens) & RGD:126740710|RGD:126756095|RGD:151794958|RGD:151813680|RGD:151885564|RGD:151888253|RGD:152111081|RGD:152119169|RGD:155944679|RGD:155957524|RGD:155998998|RGD:156028049|RGD:156073568|RGD:156297795|RGD:156309307|RGD:156361692|RGD:156394279|RGD:26888972|RGD:26904554|RGD:404992342 (Homo sapiens) & RGD:126740710|RGD:126756095|RGD:151794958|RGD:151813680|RGD:151885564|RGD:151888253|RGD:152111081|RGD:152119169|RGD:155944679|RGD:155957524|RGD:155998998|RGD:156028049|RGD:156073568|RGD:156297795|RGD:156309307|RGD:156361692|RGD:156394279|RGD:26888972|RGD:26904554|RGD:404992342 (Homo sapiens) & RGD:126740710|RGD:126756095|RGD:151794958|RGD:151813680|RGD:151885564|RGD:151888253|RGD:152111081|RGD:152119169|RGD:155944679|RGD:155957524|RGD:155998998|RGD:156028049|RGD:156073568|RGD:156297795|RGD:156309307|RGD:156361692|RGD:156394279|RGD:26888972|RGD:26904554|RGD:404992342 (Homo sapiens) & RGD:126740710|RGD:126756095|RGD:151794958|RGD:151813680|RGD:151885564|RGD:151888253|RGD:152111081|RGD:152119169|RGD:155944679|RGD:155957524|RGD:155998998|RGD:156028049|RGD:156073568|RGD:156297795|RGD:156309307|RGD:156361692|RGD:156394279|RGD:26888972|RGD:26904554|RGD:404992342 (Homo sapiens) & RGD:126740710|RGD:126756095|RGD:151794958|RGD:151813680|RGD:151885564|RGD:151888253|RGD:152111081|RGD:152119169|RGD:155944679|RGD:155957524|RGD:155998998|RGD:156028049|RGD:156073568|RGD:156297795|RGD:156309307|RGD:156361692|RGD:156394279|RGD:26888972|RGD:26904554|RGD:404992342 (Homo sapiens) & RGD:126740710|RGD:126756095|RGD:151794958|RGD:151813680|RGD:151885564|RGD:151888253|RGD:152111081|RGD:152119169|RGD:155944679|RGD:155957524|RGD:155998998|RGD:156028049|RGD:156073568|RGD:156297795|RGD:156309307|RGD:156361692|RGD:156394279|RGD:26888972|RGD:26904554|RGD:404992342 (Homo sapiens) & RGD:126740710|RGD:126756095|RGD:151794958|RGD:151813680|RGD:151885564|RGD:151888253|RGD:152111081|RGD:152119169|RGD:155944679|RGD:155957524|RGD:155998998|RGD:156028049|RGD:156073568|RGD:156297795|RGD:156309307|RGD:156361692|RGD:156394279|RGD:26888972|RGD:26904554|RGD:404992342 (Homo sapiens) & RGD:126740710|RGD:126756095|RGD:151794958|RGD:151813680|RGD:151885564|RGD:151888253|RGD:152111081|RGD:152119169|RGD:155944679|RGD:155957524|RGD:155998998|RGD:156028049|RGD:156073568|RGD:156297795|RGD:156309307|RGD:156361692|RGD:156394279|RGD:26888972|RGD:26904554|RGD:404992342 (Homo sapiens) & RGD:126740710|RGD:126756095|RGD:151794958|RGD:151813680|RGD:151885564|RGD:151888253|RGD:152111081|RGD:152119169|RGD:155944679|RGD:155957524|RGD:155998998|RGD:156028049|RGD:156073568|RGD:156297795|RGD:156309307|RGD:156361692|RGD:156394279|RGD:26888972|RGD:26904554|RGD:404992342 (Homo sapiens)
  • 25 RGD objects have been annotated to Desbuquois Dysplasia 1  (DOID:9007521)
  • 0 papers in RGD have been used to annotate LOC130058566
  • Curation Notes: ClinVar Annotator: match by term: Desbuquois dysplasia 1
  • Original References(s): PMID:28492532


    • An association has been curated linking LOC130058566 and Desbuquois Dysplasia 1 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:12740798 (Homo sapiens)
  • 25 RGD objects have been annotated to Desbuquois Dysplasia 1  (DOID:9007521)
  • 0 papers in RGD have been used to annotate LOC130058566
  • Curation Notes: ClinVar Annotator: match by term: Desbuquois dysplasia 1
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking LOC130058566 and Desbuquois Dysplasia 1 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:8657826 (Homo sapiens)
  • 25 RGD objects have been annotated to Desbuquois Dysplasia 1  (DOID:9007521)
  • 0 papers in RGD have been used to annotate LOC130058566
  • Curation Notes: ClinVar Annotator: match by term: Desbuquois dysplasia 1
  • Original References(s): PMID:24581741 PMID:26601923 PMID:28492532


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