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GENE - TERM ANNOTATION REPORT

41 Annotations Found.

An association has been curated linking SLC7A9 and cystinuria in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Feliubadalo L, etal., Nat Genet 1999 Sep;23(1):52-7.
  • 2 additional annotations were made from Feliubadalo L, etal., Nat Genet 1999 Sep;23(1):52-7.
  • 7 RGD objects have been annotated to cystinuria  (DOID:9266)
  • 7 papers in RGD have been used to annotate SLC7A9
  • Curation Notes: DNA:missense mutations, nonsense mutations:cds:multiple (human)


  • An association has been curated linking SLC7A9 and cystinuria 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:41406757 (Homo sapiens)
  • 7 RGD objects have been annotated to cystinuria  (DOID:9266)
  • 7 papers in RGD have been used to annotate SLC7A9
  • Curation Notes: ClinVar Annotator: match by term: Cystinuria
  • Original References(s): PMID:25741868 PMID:33532864


  • An association has been curated linking SLC7A9 and cystinuria 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:8558924 (Homo sapiens)
  • 7 RGD objects have been annotated to cystinuria  (DOID:9266)
  • 7 papers in RGD have been used to annotate SLC7A9
  • Curation Notes: ClinVar Annotator: match by term: Cystinuria
  • Original References(s): PMID:10471498


  • An association has been curated linking SLC7A9 and cystinuria 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:28908955 (Homo sapiens)
  • 7 RGD objects have been annotated to cystinuria  (DOID:9266)
  • 7 papers in RGD have been used to annotate SLC7A9
  • Curation Notes: ClinVar Annotator: match by term: Cystinuria
  • Original References(s): PMID:21255007 PMID:28492532


  • An association has been curated linking SLC7A9 and cystinuria 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:8596910 (Homo sapiens)
  • 7 RGD objects have been annotated to cystinuria  (DOID:9266)
  • 7 papers in RGD have been used to annotate SLC7A9
  • Curation Notes: ClinVar Annotator: match by term: Cystinuria
  • Original References(s): PMID:10471498 PMID:15635077


  • An association has been curated linking SLC7A9 and cystinuria 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:8596913 (Homo sapiens)
  • 7 RGD objects have been annotated to cystinuria  (DOID:9266)
  • 7 papers in RGD have been used to annotate SLC7A9
  • Curation Notes: ClinVar Annotator: match by term: Cystinuria
  • Original References(s): PMID:12371955


  • An association has been curated linking SLC7A9 and cystinuria 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:12907423 (Homo sapiens)
  • 7 RGD objects have been annotated to cystinuria  (DOID:9266)
  • 7 papers in RGD have been used to annotate SLC7A9
  • Curation Notes: ClinVar Annotator: match by term: Cystinuria
  • Original References(s): PMID:15635077 PMID:15670723 PMID:25741868


  • An association has been curated linking SLC7A9 and cystinuria in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 7 RGD objects have been annotated to cystinuria  (DOID:9266)
  • 7 papers in RGD have been used to annotate SLC7A9


  • An association has been curated linking SLC7A9 and cystinuria 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:13784131 (Homo sapiens)
  • 7 RGD objects have been annotated to cystinuria  (DOID:9266)
  • 7 papers in RGD have been used to annotate SLC7A9
  • Curation Notes: ClinVar Annotator: match by term: Cystinuria
  • Original References(s): PMID:21681106


  • An association has been curated linking SLC7A9 and cystinuria 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:13704864 (Homo sapiens)
  • 7 RGD objects have been annotated to cystinuria  (DOID:9266)
  • 7 papers in RGD have been used to annotate SLC7A9
  • Curation Notes: ClinVar Annotator: match by term: Cystinuria
  • Original References(s): PMID:15670723 PMID:25741868


  • An association has been curated linking SLC7A9 and cystinuria 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:8596909 (Homo sapiens)
  • 7 RGD objects have been annotated to cystinuria  (DOID:9266)
  • 7 papers in RGD have been used to annotate SLC7A9
  • Curation Notes: ClinVar Annotator: match by term: Cystinuria
  • Original References(s): PMID:10471498 PMID:11157794 PMID:11260385 PMID:12234930 PMID:12239244 PMID:12820697 PMID:15635077 PMID:18414213 PMID:19782624 PMID:22480232 PMID:24033266 PMID:25109415 PMID:25296721 PMID:25741868 PMID:25964309 PMID:28492532 PMID:28646536


  • An association has been curated linking SLC7A9 and cystinuria 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:8596911 (Homo sapiens)
  • 7 RGD objects have been annotated to cystinuria  (DOID:9266)
  • 7 papers in RGD have been used to annotate SLC7A9
  • Curation Notes: ClinVar Annotator: match by term: Cystinuria
  • Original References(s): PMID:10471498 PMID:19782624 PMID:28492532


  • An association has been curated linking SLC7A9 and cystinuria 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:8596912 (Homo sapiens)
  • 7 RGD objects have been annotated to cystinuria  (DOID:9266)
  • 7 papers in RGD have been used to annotate SLC7A9
  • Curation Notes: ClinVar Annotator: match by term: SLC7A9-related condition
  • Original References(s): PMID:11157794 PMID:16138908 PMID:16225397 PMID:16609684 PMID:25296721 PMID:25741868 PMID:25964309 PMID:28492532 PMID:28646536 PMID:28717662 PMID:33532864


  • An association has been curated linking SLC7A9 and cystinuria 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:28899159 (Homo sapiens)
  • 7 RGD objects have been annotated to cystinuria  (DOID:9266)
  • 7 papers in RGD have been used to annotate SLC7A9
  • Curation Notes: ClinVar Annotator: match by term: Cystinuria
  • Original References(s): PMID:12036192 PMID:18947684 PMID:28492532 PMID:33349102


  • An association has been curated linking SLC7A9 and cystinuria 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:152999284 (Homo sapiens)
  • 7 RGD objects have been annotated to cystinuria  (DOID:9266)
  • 7 papers in RGD have been used to annotate SLC7A9
  • Curation Notes: ClinVar Annotator: match by term: Cystinuria
  • Original References(s): PMID:16374432 PMID:25741868


  • An association has been curated linking SLC7A9 and cystinuria 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:8596916 (Homo sapiens)
  • 7 RGD objects have been annotated to cystinuria  (DOID:9266)
  • 7 papers in RGD have been used to annotate SLC7A9
  • Curation Notes: ClinVar Annotator: match by term: Cystinuria
  • Original References(s): PMID:11157794 PMID:15635077 PMID:16138908 PMID:17539912 PMID:19782624 PMID:22480232 PMID:25109415 PMID:25741868 PMID:25964309 PMID:28492532 PMID:28717662 PMID:28812535 PMID:33262960 PMID:33532864 PMID:6031738


  • An association has been curated linking SLC7A9 and cystinuria 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:127273427 (Homo sapiens)
  • 7 RGD objects have been annotated to cystinuria  (DOID:9266)
  • 7 papers in RGD have been used to annotate SLC7A9
  • Curation Notes: ClinVar Annotator: match by term: SLC7A9-related condition
  • Original References(s): PMID:11157794 PMID:16838140 PMID:25296721 PMID:25741868 PMID:28492532


  • An association has been curated linking SLC7A9 and cystinuria 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:156346994 (Homo sapiens)
  • 7 RGD objects have been annotated to cystinuria  (DOID:9266)
  • 7 papers in RGD have been used to annotate SLC7A9
  • Curation Notes: ClinVar Annotator: match by term: SLC7A9-related condition
  • Original References(s): PMID:23532419 PMID:25741868 PMID:28492532


  • An association has been curated linking SLC7A9 and cystinuria 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:9686735 (Homo sapiens)
  • 7 RGD objects have been annotated to cystinuria  (DOID:9266)
  • 7 papers in RGD have been used to annotate SLC7A9
  • Curation Notes: ClinVar Annotator: match by term: Cystinuria
  • Original References(s): PMID:12820697 PMID:25741868 PMID:28492532


  • An association has been curated linking SLC7A9 and cystinuria 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:151722049 (Homo sapiens)
  • 7 RGD objects have been annotated to cystinuria  (DOID:9266)
  • 7 papers in RGD have been used to annotate SLC7A9
  • Curation Notes: ClinVar Annotator: match by term: Cystinuria
  • Original References(s): PMID:25741868 PMID:28492532 PMID:28717662


  • An association has been curated linking SLC7A9 and cystinuria 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:8596907 (Homo sapiens)
  • 7 RGD objects have been annotated to cystinuria  (DOID:9266)
  • 7 papers in RGD have been used to annotate SLC7A9
  • Curation Notes: ClinVar Annotator: match by term: Cystinuria
  • Original References(s): PMID:10471498 PMID:11013083 PMID:15635077 PMID:25741868


  • An association has been curated linking SLC7A9 and cystinuria 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:38484326 (Homo sapiens)
  • 7 RGD objects have been annotated to cystinuria  (DOID:9266)
  • 7 papers in RGD have been used to annotate SLC7A9
  • Curation Notes: ClinVar Annotator: match by term: Cystinuria
  • Original References(s): PMID:11157794 PMID:15635077 PMID:16199547 PMID:16838140 PMID:19782624 PMID:25296721 PMID:25741868 PMID:28492532 PMID:28646536


  • An association has been curated linking SLC7A9 and cystinuria 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:11632775 (Homo sapiens)
  • 7 RGD objects have been annotated to cystinuria  (DOID:9266)
  • 7 papers in RGD have been used to annotate SLC7A9
  • Curation Notes: ClinVar Annotator: match by term: SLC7A9-related condition
  • Original References(s): PMID:11157794 PMID:12371955 PMID:15635077 PMID:16834950 PMID:16838140 PMID:19782624 PMID:21255007 PMID:24033266 PMID:25109415 PMID:25296721 PMID:25741868 PMID:25964309 PMID:28492532


  • An association has been curated linking SLC7A9 and cystinuria 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:8596915 (Homo sapiens)
  • 7 RGD objects have been annotated to cystinuria  (DOID:9266)
  • 7 papers in RGD have been used to annotate SLC7A9
  • Curation Notes: ClinVar Annotator: match by term: Cystinuria
  • Original References(s): PMID:15635077 PMID:16225397 PMID:28492532 PMID:33377691


  • An association has been curated linking SLC7A9 and cystinuria 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:14693162 (Homo sapiens)
  • 7 RGD objects have been annotated to cystinuria  (DOID:9266)
  • 7 papers in RGD have been used to annotate SLC7A9
  • Curation Notes: ClinVar Annotator: match by term: Cystinuria
  • Original References(s): PMID:12234283 PMID:19782624 PMID:21255007 PMID:25109415 PMID:25296721 PMID:25741868 PMID:25964309 PMID:28492532 PMID:28646536 PMID:33349102


  • An association has been curated linking SLC7A9 and cystinuria 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:21067055 (Homo sapiens)
  • 7 RGD objects have been annotated to cystinuria  (DOID:9266)
  • 7 papers in RGD have been used to annotate SLC7A9
  • Curation Notes: ClinVar Annotator: match by term: Cystine urolithiasis
  • Original References(s): PMID:16374432 PMID:17576681 PMID:28492532 PMID:32133030 PMID:9536098


  • An association has been curated linking SLC7A9 and cystinuria 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:28898889 (Homo sapiens)
  • 7 RGD objects have been annotated to cystinuria  (DOID:9266)
  • 7 papers in RGD have been used to annotate SLC7A9
  • Curation Notes: ClinVar Annotator: match by term: SLC7A9-related condition
  • Original References(s): PMID:25296721 PMID:25741868 PMID:28492532


  • An association has been curated linking SLC7A9 and cystinuria 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:28905385 (Homo sapiens)
  • 7 RGD objects have been annotated to cystinuria  (DOID:9266)
  • 7 papers in RGD have been used to annotate SLC7A9
  • Curation Notes: ClinVar Annotator: match by term: Cystinuria
  • Original References(s): PMID:25599739 PMID:26123750 PMID:28492532


  • An association has been curated linking SLC7A9 and cystinuria 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:150520788 (Homo sapiens)
  • 7 RGD objects have been annotated to cystinuria  (DOID:9266)
  • 7 papers in RGD have been used to annotate SLC7A9
  • Curation Notes: ClinVar Annotator: match by term: Cystinuria
  • Original References(s): PMID:25109415 PMID:25741868 PMID:28492532 PMID:28717662


  • An association has been curated linking SLC7A9 and cystinuria 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:8596914 (Homo sapiens)
  • 7 RGD objects have been annotated to cystinuria  (DOID:9266)
  • 7 papers in RGD have been used to annotate SLC7A9
  • Curation Notes: ClinVar Annotator: match by term: Cystinuria
  • Original References(s): PMID:11748844 PMID:12371955 PMID:12820697 PMID:28492532


  • An association has been curated linking SLC7A9 and cystinuria 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:126924395 (Homo sapiens)
  • 7 RGD objects have been annotated to cystinuria  (DOID:9266)
  • 7 papers in RGD have been used to annotate SLC7A9
  • Curation Notes: ClinVar Annotator: match by term: Cystinuria
  • Original References(s): PMID:25109415 PMID:25741868 PMID:28492532


  • An association has been curated linking SLC7A9 and cystinuria 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:150330576 (Homo sapiens)
  • 7 RGD objects have been annotated to cystinuria  (DOID:9266)
  • 7 papers in RGD have been used to annotate SLC7A9
  • Curation Notes: ClinVar Annotator: match by term: Cystinuria
  • Original References(s): PMID:11157794 PMID:16374432 PMID:25741868 PMID:28492532 PMID:28717662


  • An association has been curated linking SLC7A9 and cystinuria 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
  • 7 RGD objects have been annotated to cystinuria  (DOID:9266)
  • 7 papers in RGD have been used to annotate SLC7A9
  • Curation Notes: CTD Direct Evidence: marker/mechanism


  • An association has been curated linking SLC7A9 and cystinuria in Homo sapiens.        

  • 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 Slc7a9 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 7 RGD objects have been annotated to cystinuria  (DOID:9266)
  • 7 papers in RGD have been used to annotate SLC7A9
  • Curation Notes: OMIM:220100


  • An association has been curated linking SLC7A9 and cystinuria 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:11522780|RGD:11619824|RGD:11620506|RGD:11621930|RGD:11625716|RGD:11626237|RGD:11628002|RGD:11629392|RGD:11630146|RGD:11631033|RGD:11645300|RGD:11651134|RGD:11654612|RGD:11661174|RGD:14691315|RGD:151235729|RGD:21067023|RGD:21067026|RGD:21067042|RGD:21067047|RGD:21067049|RGD:21067059|RGD:21067061|RGD:28896214|RGD:28898886|RGD:28899162|RGD:28905230|RGD:28905233|RGD:28908959|RGD:28909136|RGD:41406221 (Homo sapiens) & RGD:11522780|RGD:11619824|RGD:11620506|RGD:11621930|RGD:11625716|RGD:11626237|RGD:11628002|RGD:11629392|RGD:11630146|RGD:11631033|RGD:11645300|RGD:11651134|RGD:11654612|RGD:11661174|RGD:14691315|RGD:151235729|RGD:21067023|RGD:21067026|RGD:21067042|RGD:21067047|RGD:21067049|RGD:21067059|RGD:21067061|RGD:28896214|RGD:28898886|RGD:28899162|RGD:28905230|RGD:28905233|RGD:28908959|RGD:28909136|RGD:41406221 (Homo sapiens) & RGD:11522780|RGD:11619824|RGD:11620506|RGD:11621930|RGD:11625716|RGD:11626237|RGD:11628002|RGD:11629392|RGD:11630146|RGD:11631033|RGD:11645300|RGD:11651134|RGD:11654612|RGD:11661174|RGD:14691315|RGD:151235729|RGD:21067023|RGD:21067026|RGD:21067042|RGD:21067047|RGD:21067049|RGD:21067059|RGD:21067061|RGD:28896214|RGD:28898886|RGD:28899162|RGD:28905230|RGD:28905233|RGD:28908959|RGD:28909136|RGD:41406221 (Homo sapiens) & RGD:11522780|RGD:11619824|RGD:11620506|RGD:11621930|RGD:11625716|RGD:11626237|RGD:11628002|RGD:11629392|RGD:11630146|RGD:11631033|RGD:11645300|RGD:11651134|RGD:11654612|RGD:11661174|RGD:14691315|RGD:151235729|RGD:21067023|RGD:21067026|RGD:21067042|RGD:21067047|RGD:21067049|RGD:21067059|RGD:21067061|RGD:28896214|RGD:28898886|RGD:28899162|RGD:28905230|RGD:28905233|RGD:28908959|RGD:28909136|RGD:41406221 (Homo sapiens) & RGD:11522780|RGD:11619824|RGD:11620506|RGD:11621930|RGD:11625716|RGD:11626237|RGD:11628002|RGD:11629392|RGD:11630146|RGD:11631033|RGD:11645300|RGD:11651134|RGD:11654612|RGD:11661174|RGD:14691315|RGD:151235729|RGD:21067023|RGD:21067026|RGD:21067042|RGD:21067047|RGD:21067049|RGD:21067059|RGD:21067061|RGD:28896214|RGD:28898886|RGD:28899162|RGD:28905230|RGD:28905233|RGD:28908959|RGD:28909136|RGD:41406221 (Homo sapiens) & RGD:11522780|RGD:11619824|RGD:11620506|RGD:11621930|RGD:11625716|RGD:11626237|RGD:11628002|RGD:11629392|RGD:11630146|RGD:11631033|RGD:11645300|RGD:11651134|RGD:11654612|RGD:11661174|RGD:14691315|RGD:151235729|RGD:21067023|RGD:21067026|RGD:21067042|RGD:21067047|RGD:21067049|RGD:21067059|RGD:21067061|RGD:28896214|RGD:28898886|RGD:28899162|RGD:28905230|RGD:28905233|RGD:28908959|RGD:28909136|RGD:41406221 (Homo sapiens) & RGD:11522780|RGD:11619824|RGD:11620506|RGD:11621930|RGD:11625716|RGD:11626237|RGD:11628002|RGD:11629392|RGD:11630146|RGD:11631033|RGD:11645300|RGD:11651134|RGD:11654612|RGD:11661174|RGD:14691315|RGD:151235729|RGD:21067023|RGD:21067026|RGD:21067042|RGD:21067047|RGD:21067049|RGD:21067059|RGD:21067061|RGD:28896214|RGD:28898886|RGD:28899162|RGD:28905230|RGD:28905233|RGD:28908959|RGD:28909136|RGD:41406221 (Homo sapiens) & RGD:11522780|RGD:11619824|RGD:11620506|RGD:11621930|RGD:11625716|RGD:11626237|RGD:11628002|RGD:11629392|RGD:11630146|RGD:11631033|RGD:11645300|RGD:11651134|RGD:11654612|RGD:11661174|RGD:14691315|RGD:151235729|RGD:21067023|RGD:21067026|RGD:21067042|RGD:21067047|RGD:21067049|RGD:21067059|RGD:21067061|RGD:28896214|RGD:28898886|RGD:28899162|RGD:28905230|RGD:28905233|RGD:28908959|RGD:28909136|RGD:41406221 (Homo sapiens) & RGD:11522780|RGD:11619824|RGD:11620506|RGD:11621930|RGD:11625716|RGD:11626237|RGD:11628002|RGD:11629392|RGD:11630146|RGD:11631033|RGD:11645300|RGD:11651134|RGD:11654612|RGD:11661174|RGD:14691315|RGD:151235729|RGD:21067023|RGD:21067026|RGD:21067042|RGD:21067047|RGD:21067049|RGD:21067059|RGD:21067061|RGD:28896214|RGD:28898886|RGD:28899162|RGD:28905230|RGD:28905233|RGD:28908959|RGD:28909136|RGD:41406221 (Homo sapiens) & RGD:11522780|RGD:11619824|RGD:11620506|RGD:11621930|RGD:11625716|RGD:11626237|RGD:11628002|RGD:11629392|RGD:11630146|RGD:11631033|RGD:11645300|RGD:11651134|RGD:11654612|RGD:11661174|RGD:14691315|RGD:151235729|RGD:21067023|RGD:21067026|RGD:21067042|RGD:21067047|RGD:21067049|RGD:21067059|RGD:21067061|RGD:28896214|RGD:28898886|RGD:28899162|RGD:28905230|RGD:28905233|RGD:28908959|RGD:28909136|RGD:41406221 (Homo sapiens) & RGD:11522780|RGD:11619824|RGD:11620506|RGD:11621930|RGD:11625716|RGD:11626237|RGD:11628002|RGD:11629392|RGD:11630146|RGD:11631033|RGD:11645300|RGD:11651134|RGD:11654612|RGD:11661174|RGD:14691315|RGD:151235729|RGD:21067023|RGD:21067026|RGD:21067042|RGD:21067047|RGD:21067049|RGD:21067059|RGD:21067061|RGD:28896214|RGD:28898886|RGD:28899162|RGD:28905230|RGD:28905233|RGD:28908959|RGD:28909136|RGD:41406221 (Homo sapiens) & RGD:11522780|RGD:11619824|RGD:11620506|RGD:11621930|RGD:11625716|RGD:11626237|RGD:11628002|RGD:11629392|RGD:11630146|RGD:11631033|RGD:11645300|RGD:11651134|RGD:11654612|RGD:11661174|RGD:14691315|RGD:151235729|RGD:21067023|RGD:21067026|RGD:21067042|RGD:21067047|RGD:21067049|RGD:21067059|RGD:21067061|RGD:28896214|RGD:28898886|RGD:28899162|RGD:28905230|RGD:28905233|RGD:28908959|RGD:28909136|RGD:41406221 (Homo sapiens) & RGD:11522780|RGD:11619824|RGD:11620506|RGD:11621930|RGD:11625716|RGD:11626237|RGD:11628002|RGD:11629392|RGD:11630146|RGD:11631033|RGD:11645300|RGD:11651134|RGD:11654612|RGD:11661174|RGD:14691315|RGD:151235729|RGD:21067023|RGD:21067026|RGD:21067042|RGD:21067047|RGD:21067049|RGD:21067059|RGD:21067061|RGD:28896214|RGD:28898886|RGD:28899162|RGD:28905230|RGD:28905233|RGD:28908959|RGD:28909136|RGD:41406221 (Homo sapiens) & RGD:11522780|RGD:11619824|RGD:11620506|RGD:11621930|RGD:11625716|RGD:11626237|RGD:11628002|RGD:11629392|RGD:11630146|RGD:11631033|RGD:11645300|RGD:11651134|RGD:11654612|RGD:11661174|RGD:14691315|RGD:151235729|RGD:21067023|RGD:21067026|RGD:21067042|RGD:21067047|RGD:21067049|RGD:21067059|RGD:21067061|RGD:28896214|RGD:28898886|RGD:28899162|RGD:28905230|RGD:28905233|RGD:28908959|RGD:28909136|RGD:41406221 (Homo sapiens) & RGD:11522780|RGD:11619824|RGD:11620506|RGD:11621930|RGD:11625716|RGD:11626237|RGD:11628002|RGD:11629392|RGD:11630146|RGD:11631033|RGD:11645300|RGD:11651134|RGD:11654612|RGD:11661174|RGD:14691315|RGD:151235729|RGD:21067023|RGD:21067026|RGD:21067042|RGD:21067047|RGD:21067049|RGD:21067059|RGD:21067061|RGD:28896214|RGD:28898886|RGD:28899162|RGD:28905230|RGD:28905233|RGD:28908959|RGD:28909136|RGD:41406221 (Homo sapiens) & RGD:11522780|RGD:11619824|RGD:11620506|RGD:11621930|RGD:11625716|RGD:11626237|RGD:11628002|RGD:11629392|RGD:11630146|RGD:11631033|RGD:11645300|RGD:11651134|RGD:11654612|RGD:11661174|RGD:14691315|RGD:151235729|RGD:21067023|RGD:21067026|RGD:21067042|RGD:21067047|RGD:21067049|RGD:21067059|RGD:21067061|RGD:28896214|RGD:28898886|RGD:28899162|RGD:28905230|RGD:28905233|RGD:28908959|RGD:28909136|RGD:41406221 (Homo sapiens) & RGD:11522780|RGD:11619824|RGD:11620506|RGD:11621930|RGD:11625716|RGD:11626237|RGD:11628002|RGD:11629392|RGD:11630146|RGD:11631033|RGD:11645300|RGD:11651134|RGD:11654612|RGD:11661174|RGD:14691315|RGD:151235729|RGD:21067023|RGD:21067026|RGD:21067042|RGD:21067047|RGD:21067049|RGD:21067059|RGD:21067061|RGD:28896214|RGD:28898886|RGD:28899162|RGD:28905230|RGD:28905233|RGD:28908959|RGD:28909136|RGD:41406221 (Homo sapiens) & RGD:11522780|RGD:11619824|RGD:11620506|RGD:11621930|RGD:11625716|RGD:11626237|RGD:11628002|RGD:11629392|RGD:11630146|RGD:11631033|RGD:11645300|RGD:11651134|RGD:11654612|RGD:11661174|RGD:14691315|RGD:151235729|RGD:21067023|RGD:21067026|RGD:21067042|RGD:21067047|RGD:21067049|RGD:21067059|RGD:21067061|RGD:28896214|RGD:28898886|RGD:28899162|RGD:28905230|RGD:28905233|RGD:28908959|RGD:28909136|RGD:41406221 (Homo sapiens) & RGD:11522780|RGD:11619824|RGD:11620506|RGD:11621930|RGD:11625716|RGD:11626237|RGD:11628002|RGD:11629392|RGD:11630146|RGD:11631033|RGD:11645300|RGD:11651134|RGD:11654612|RGD:11661174|RGD:14691315|RGD:151235729|RGD:21067023|RGD:21067026|RGD:21067042|RGD:21067047|RGD:21067049|RGD:21067059|RGD:21067061|RGD:28896214|RGD:28898886|RGD:28899162|RGD:28905230|RGD:28905233|RGD:28908959|RGD:28909136|RGD:41406221 (Homo sapiens) & RGD:11522780|RGD:11619824|RGD:11620506|RGD:11621930|RGD:11625716|RGD:11626237|RGD:11628002|RGD:11629392|RGD:11630146|RGD:11631033|RGD:11645300|RGD:11651134|RGD:11654612|RGD:11661174|RGD:14691315|RGD:151235729|RGD:21067023|RGD:21067026|RGD:21067042|RGD:21067047|RGD:21067049|RGD:21067059|RGD:21067061|RGD:28896214|RGD:28898886|RGD:28899162|RGD:28905230|RGD:28905233|RGD:28908959|RGD:28909136|RGD:41406221 (Homo sapiens) & RGD:11522780|RGD:11619824|RGD:11620506|RGD:11621930|RGD:11625716|RGD:11626237|RGD:11628002|RGD:11629392|RGD:11630146|RGD:11631033|RGD:11645300|RGD:11651134|RGD:11654612|RGD:11661174|RGD:14691315|RGD:151235729|RGD:21067023|RGD:21067026|RGD:21067042|RGD:21067047|RGD:21067049|RGD:21067059|RGD:21067061|RGD:28896214|RGD:28898886|RGD:28899162|RGD:28905230|RGD:28905233|RGD:28908959|RGD:28909136|RGD:41406221 (Homo sapiens) & RGD:11522780|RGD:11619824|RGD:11620506|RGD:11621930|RGD:11625716|RGD:11626237|RGD:11628002|RGD:11629392|RGD:11630146|RGD:11631033|RGD:11645300|RGD:11651134|RGD:11654612|RGD:11661174|RGD:14691315|RGD:151235729|RGD:21067023|RGD:21067026|RGD:21067042|RGD:21067047|RGD:21067049|RGD:21067059|RGD:21067061|RGD:28896214|RGD:28898886|RGD:28899162|RGD:28905230|RGD:28905233|RGD:28908959|RGD:28909136|RGD:41406221 (Homo sapiens) & RGD:11522780|RGD:11619824|RGD:11620506|RGD:11621930|RGD:11625716|RGD:11626237|RGD:11628002|RGD:11629392|RGD:11630146|RGD:11631033|RGD:11645300|RGD:11651134|RGD:11654612|RGD:11661174|RGD:14691315|RGD:151235729|RGD:21067023|RGD:21067026|RGD:21067042|RGD:21067047|RGD:21067049|RGD:21067059|RGD:21067061|RGD:28896214|RGD:28898886|RGD:28899162|RGD:28905230|RGD:28905233|RGD:28908959|RGD:28909136|RGD:41406221 (Homo sapiens) & RGD:11522780|RGD:11619824|RGD:11620506|RGD:11621930|RGD:11625716|RGD:11626237|RGD:11628002|RGD:11629392|RGD:11630146|RGD:11631033|RGD:11645300|RGD:11651134|RGD:11654612|RGD:11661174|RGD:14691315|RGD:151235729|RGD:21067023|RGD:21067026|RGD:21067042|RGD:21067047|RGD:21067049|RGD:21067059|RGD:21067061|RGD:28896214|RGD:28898886|RGD:28899162|RGD:28905230|RGD:28905233|RGD:28908959|RGD:28909136|RGD:41406221 (Homo sapiens) & RGD:11522780|RGD:11619824|RGD:11620506|RGD:11621930|RGD:11625716|RGD:11626237|RGD:11628002|RGD:11629392|RGD:11630146|RGD:11631033|RGD:11645300|RGD:11651134|RGD:11654612|RGD:11661174|RGD:14691315|RGD:151235729|RGD:21067023|RGD:21067026|RGD:21067042|RGD:21067047|RGD:21067049|RGD:21067059|RGD:21067061|RGD:28896214|RGD:28898886|RGD:28899162|RGD:28905230|RGD:28905233|RGD:28908959|RGD:28909136|RGD:41406221 (Homo sapiens) & RGD:11522780|RGD:11619824|RGD:11620506|RGD:11621930|RGD:11625716|RGD:11626237|RGD:11628002|RGD:11629392|RGD:11630146|RGD:11631033|RGD:11645300|RGD:11651134|RGD:11654612|RGD:11661174|RGD:14691315|RGD:151235729|RGD:21067023|RGD:21067026|RGD:21067042|RGD:21067047|RGD:21067049|RGD:21067059|RGD:21067061|RGD:28896214|RGD:28898886|RGD:28899162|RGD:28905230|RGD:28905233|RGD:28908959|RGD:28909136|RGD:41406221 (Homo sapiens) & RGD:11522780|RGD:11619824|RGD:11620506|RGD:11621930|RGD:11625716|RGD:11626237|RGD:11628002|RGD:11629392|RGD:11630146|RGD:11631033|RGD:11645300|RGD:11651134|RGD:11654612|RGD:11661174|RGD:14691315|RGD:151235729|RGD:21067023|RGD:21067026|RGD:21067042|RGD:21067047|RGD:21067049|RGD:21067059|RGD:21067061|RGD:28896214|RGD:28898886|RGD:28899162|RGD:28905230|RGD:28905233|RGD:28908959|RGD:28909136|RGD:41406221 (Homo sapiens) & RGD:11522780|RGD:11619824|RGD:11620506|RGD:11621930|RGD:11625716|RGD:11626237|RGD:11628002|RGD:11629392|RGD:11630146|RGD:11631033|RGD:11645300|RGD:11651134|RGD:11654612|RGD:11661174|RGD:14691315|RGD:151235729|RGD:21067023|RGD:21067026|RGD:21067042|RGD:21067047|RGD:21067049|RGD:21067059|RGD:21067061|RGD:28896214|RGD:28898886|RGD:28899162|RGD:28905230|RGD:28905233|RGD:28908959|RGD:28909136|RGD:41406221 (Homo sapiens) & RGD:11522780|RGD:11619824|RGD:11620506|RGD:11621930|RGD:11625716|RGD:11626237|RGD:11628002|RGD:11629392|RGD:11630146|RGD:11631033|RGD:11645300|RGD:11651134|RGD:11654612|RGD:11661174|RGD:14691315|RGD:151235729|RGD:21067023|RGD:21067026|RGD:21067042|RGD:21067047|RGD:21067049|RGD:21067059|RGD:21067061|RGD:28896214|RGD:28898886|RGD:28899162|RGD:28905230|RGD:28905233|RGD:28908959|RGD:28909136|RGD:41406221 (Homo sapiens) & RGD:11522780|RGD:11619824|RGD:11620506|RGD:11621930|RGD:11625716|RGD:11626237|RGD:11628002|RGD:11629392|RGD:11630146|RGD:11631033|RGD:11645300|RGD:11651134|RGD:11654612|RGD:11661174|RGD:14691315|RGD:151235729|RGD:21067023|RGD:21067026|RGD:21067042|RGD:21067047|RGD:21067049|RGD:21067059|RGD:21067061|RGD:28896214|RGD:28898886|RGD:28899162|RGD:28905230|RGD:28905233|RGD:28908959|RGD:28909136|RGD:41406221 (Homo sapiens) & RGD:11522780|RGD:11619824|RGD:11620506|RGD:11621930|RGD:11625716|RGD:11626237|RGD:11628002|RGD:11629392|RGD:11630146|RGD:11631033|RGD:11645300|RGD:11651134|RGD:11654612|RGD:11661174|RGD:14691315|RGD:151235729|RGD:21067023|RGD:21067026|RGD:21067042|RGD:21067047|RGD:21067049|RGD:21067059|RGD:21067061|RGD:28896214|RGD:28898886|RGD:28899162|RGD:28905230|RGD:28905233|RGD:28908959|RGD:28909136|RGD:41406221 (Homo sapiens)
  • 7 RGD objects have been annotated to cystinuria  (DOID:9266)
  • 7 papers in RGD have been used to annotate SLC7A9
  • Curation Notes: ClinVar Annotator: match by term: Cystine urolithiasis | ClinVar Annotator: match by term: Cystinuria


  • An association has been curated linking SLC7A9 and cystinuria 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:11614770|RGD:11616653|RGD:11618275|RGD:11618384|RGD:11619368|RGD:11622227|RGD:11622961|RGD:11623631|RGD:11625040|RGD:11625254|RGD:11627155|RGD:11628679|RGD:11630520|RGD:11630950|RGD:11631476|RGD:11631952|RGD:11632297|RGD:11661584|RGD:15167704|RGD:25314846|RGD:28898880|RGD:28898882|RGD:28898892|RGD:28905236 (Homo sapiens) & RGD:11614770|RGD:11616653|RGD:11618275|RGD:11618384|RGD:11619368|RGD:11622227|RGD:11622961|RGD:11623631|RGD:11625040|RGD:11625254|RGD:11627155|RGD:11628679|RGD:11630520|RGD:11630950|RGD:11631476|RGD:11631952|RGD:11632297|RGD:11661584|RGD:15167704|RGD:25314846|RGD:28898880|RGD:28898882|RGD:28898892|RGD:28905236 (Homo sapiens) & RGD:11614770|RGD:11616653|RGD:11618275|RGD:11618384|RGD:11619368|RGD:11622227|RGD:11622961|RGD:11623631|RGD:11625040|RGD:11625254|RGD:11627155|RGD:11628679|RGD:11630520|RGD:11630950|RGD:11631476|RGD:11631952|RGD:11632297|RGD:11661584|RGD:15167704|RGD:25314846|RGD:28898880|RGD:28898882|RGD:28898892|RGD:28905236 (Homo sapiens) & RGD:11614770|RGD:11616653|RGD:11618275|RGD:11618384|RGD:11619368|RGD:11622227|RGD:11622961|RGD:11623631|RGD:11625040|RGD:11625254|RGD:11627155|RGD:11628679|RGD:11630520|RGD:11630950|RGD:11631476|RGD:11631952|RGD:11632297|RGD:11661584|RGD:15167704|RGD:25314846|RGD:28898880|RGD:28898882|RGD:28898892|RGD:28905236 (Homo sapiens) & RGD:11614770|RGD:11616653|RGD:11618275|RGD:11618384|RGD:11619368|RGD:11622227|RGD:11622961|RGD:11623631|RGD:11625040|RGD:11625254|RGD:11627155|RGD:11628679|RGD:11630520|RGD:11630950|RGD:11631476|RGD:11631952|RGD:11632297|RGD:11661584|RGD:15167704|RGD:25314846|RGD:28898880|RGD:28898882|RGD:28898892|RGD:28905236 (Homo sapiens) & RGD:11614770|RGD:11616653|RGD:11618275|RGD:11618384|RGD:11619368|RGD:11622227|RGD:11622961|RGD:11623631|RGD:11625040|RGD:11625254|RGD:11627155|RGD:11628679|RGD:11630520|RGD:11630950|RGD:11631476|RGD:11631952|RGD:11632297|RGD:11661584|RGD:15167704|RGD:25314846|RGD:28898880|RGD:28898882|RGD:28898892|RGD:28905236 (Homo sapiens) & RGD:11614770|RGD:11616653|RGD:11618275|RGD:11618384|RGD:11619368|RGD:11622227|RGD:11622961|RGD:11623631|RGD:11625040|RGD:11625254|RGD:11627155|RGD:11628679|RGD:11630520|RGD:11630950|RGD:11631476|RGD:11631952|RGD:11632297|RGD:11661584|RGD:15167704|RGD:25314846|RGD:28898880|RGD:28898882|RGD:28898892|RGD:28905236 (Homo sapiens) & RGD:11614770|RGD:11616653|RGD:11618275|RGD:11618384|RGD:11619368|RGD:11622227|RGD:11622961|RGD:11623631|RGD:11625040|RGD:11625254|RGD:11627155|RGD:11628679|RGD:11630520|RGD:11630950|RGD:11631476|RGD:11631952|RGD:11632297|RGD:11661584|RGD:15167704|RGD:25314846|RGD:28898880|RGD:28898882|RGD:28898892|RGD:28905236 (Homo sapiens) & RGD:11614770|RGD:11616653|RGD:11618275|RGD:11618384|RGD:11619368|RGD:11622227|RGD:11622961|RGD:11623631|RGD:11625040|RGD:11625254|RGD:11627155|RGD:11628679|RGD:11630520|RGD:11630950|RGD:11631476|RGD:11631952|RGD:11632297|RGD:11661584|RGD:15167704|RGD:25314846|RGD:28898880|RGD:28898882|RGD:28898892|RGD:28905236 (Homo sapiens) & RGD:11614770|RGD:11616653|RGD:11618275|RGD:11618384|RGD:11619368|RGD:11622227|RGD:11622961|RGD:11623631|RGD:11625040|RGD:11625254|RGD:11627155|RGD:11628679|RGD:11630520|RGD:11630950|RGD:11631476|RGD:11631952|RGD:11632297|RGD:11661584|RGD:15167704|RGD:25314846|RGD:28898880|RGD:28898882|RGD:28898892|RGD:28905236 (Homo sapiens) & RGD:11614770|RGD:11616653|RGD:11618275|RGD:11618384|RGD:11619368|RGD:11622227|RGD:11622961|RGD:11623631|RGD:11625040|RGD:11625254|RGD:11627155|RGD:11628679|RGD:11630520|RGD:11630950|RGD:11631476|RGD:11631952|RGD:11632297|RGD:11661584|RGD:15167704|RGD:25314846|RGD:28898880|RGD:28898882|RGD:28898892|RGD:28905236 (Homo sapiens) & RGD:11614770|RGD:11616653|RGD:11618275|RGD:11618384|RGD:11619368|RGD:11622227|RGD:11622961|RGD:11623631|RGD:11625040|RGD:11625254|RGD:11627155|RGD:11628679|RGD:11630520|RGD:11630950|RGD:11631476|RGD:11631952|RGD:11632297|RGD:11661584|RGD:15167704|RGD:25314846|RGD:28898880|RGD:28898882|RGD:28898892|RGD:28905236 (Homo sapiens) & RGD:11614770|RGD:11616653|RGD:11618275|RGD:11618384|RGD:11619368|RGD:11622227|RGD:11622961|RGD:11623631|RGD:11625040|RGD:11625254|RGD:11627155|RGD:11628679|RGD:11630520|RGD:11630950|RGD:11631476|RGD:11631952|RGD:11632297|RGD:11661584|RGD:15167704|RGD:25314846|RGD:28898880|RGD:28898882|RGD:28898892|RGD:28905236 (Homo sapiens) & RGD:11614770|RGD:11616653|RGD:11618275|RGD:11618384|RGD:11619368|RGD:11622227|RGD:11622961|RGD:11623631|RGD:11625040|RGD:11625254|RGD:11627155|RGD:11628679|RGD:11630520|RGD:11630950|RGD:11631476|RGD:11631952|RGD:11632297|RGD:11661584|RGD:15167704|RGD:25314846|RGD:28898880|RGD:28898882|RGD:28898892|RGD:28905236 (Homo sapiens) & RGD:11614770|RGD:11616653|RGD:11618275|RGD:11618384|RGD:11619368|RGD:11622227|RGD:11622961|RGD:11623631|RGD:11625040|RGD:11625254|RGD:11627155|RGD:11628679|RGD:11630520|RGD:11630950|RGD:11631476|RGD:11631952|RGD:11632297|RGD:11661584|RGD:15167704|RGD:25314846|RGD:28898880|RGD:28898882|RGD:28898892|RGD:28905236 (Homo sapiens) & RGD:11614770|RGD:11616653|RGD:11618275|RGD:11618384|RGD:11619368|RGD:11622227|RGD:11622961|RGD:11623631|RGD:11625040|RGD:11625254|RGD:11627155|RGD:11628679|RGD:11630520|RGD:11630950|RGD:11631476|RGD:11631952|RGD:11632297|RGD:11661584|RGD:15167704|RGD:25314846|RGD:28898880|RGD:28898882|RGD:28898892|RGD:28905236 (Homo sapiens) & RGD:11614770|RGD:11616653|RGD:11618275|RGD:11618384|RGD:11619368|RGD:11622227|RGD:11622961|RGD:11623631|RGD:11625040|RGD:11625254|RGD:11627155|RGD:11628679|RGD:11630520|RGD:11630950|RGD:11631476|RGD:11631952|RGD:11632297|RGD:11661584|RGD:15167704|RGD:25314846|RGD:28898880|RGD:28898882|RGD:28898892|RGD:28905236 (Homo sapiens) & RGD:11614770|RGD:11616653|RGD:11618275|RGD:11618384|RGD:11619368|RGD:11622227|RGD:11622961|RGD:11623631|RGD:11625040|RGD:11625254|RGD:11627155|RGD:11628679|RGD:11630520|RGD:11630950|RGD:11631476|RGD:11631952|RGD:11632297|RGD:11661584|RGD:15167704|RGD:25314846|RGD:28898880|RGD:28898882|RGD:28898892|RGD:28905236 (Homo sapiens) & RGD:11614770|RGD:11616653|RGD:11618275|RGD:11618384|RGD:11619368|RGD:11622227|RGD:11622961|RGD:11623631|RGD:11625040|RGD:11625254|RGD:11627155|RGD:11628679|RGD:11630520|RGD:11630950|RGD:11631476|RGD:11631952|RGD:11632297|RGD:11661584|RGD:15167704|RGD:25314846|RGD:28898880|RGD:28898882|RGD:28898892|RGD:28905236 (Homo sapiens) & RGD:11614770|RGD:11616653|RGD:11618275|RGD:11618384|RGD:11619368|RGD:11622227|RGD:11622961|RGD:11623631|RGD:11625040|RGD:11625254|RGD:11627155|RGD:11628679|RGD:11630520|RGD:11630950|RGD:11631476|RGD:11631952|RGD:11632297|RGD:11661584|RGD:15167704|RGD:25314846|RGD:28898880|RGD:28898882|RGD:28898892|RGD:28905236 (Homo sapiens) & RGD:11614770|RGD:11616653|RGD:11618275|RGD:11618384|RGD:11619368|RGD:11622227|RGD:11622961|RGD:11623631|RGD:11625040|RGD:11625254|RGD:11627155|RGD:11628679|RGD:11630520|RGD:11630950|RGD:11631476|RGD:11631952|RGD:11632297|RGD:11661584|RGD:15167704|RGD:25314846|RGD:28898880|RGD:28898882|RGD:28898892|RGD:28905236 (Homo sapiens) & RGD:11614770|RGD:11616653|RGD:11618275|RGD:11618384|RGD:11619368|RGD:11622227|RGD:11622961|RGD:11623631|RGD:11625040|RGD:11625254|RGD:11627155|RGD:11628679|RGD:11630520|RGD:11630950|RGD:11631476|RGD:11631952|RGD:11632297|RGD:11661584|RGD:15167704|RGD:25314846|RGD:28898880|RGD:28898882|RGD:28898892|RGD:28905236 (Homo sapiens) & RGD:11614770|RGD:11616653|RGD:11618275|RGD:11618384|RGD:11619368|RGD:11622227|RGD:11622961|RGD:11623631|RGD:11625040|RGD:11625254|RGD:11627155|RGD:11628679|RGD:11630520|RGD:11630950|RGD:11631476|RGD:11631952|RGD:11632297|RGD:11661584|RGD:15167704|RGD:25314846|RGD:28898880|RGD:28898882|RGD:28898892|RGD:28905236 (Homo sapiens) & RGD:11614770|RGD:11616653|RGD:11618275|RGD:11618384|RGD:11619368|RGD:11622227|RGD:11622961|RGD:11623631|RGD:11625040|RGD:11625254|RGD:11627155|RGD:11628679|RGD:11630520|RGD:11630950|RGD:11631476|RGD:11631952|RGD:11632297|RGD:11661584|RGD:15167704|RGD:25314846|RGD:28898880|RGD:28898882|RGD:28898892|RGD:28905236 (Homo sapiens)
  • 7 RGD objects have been annotated to cystinuria  (DOID:9266)
  • 7 papers in RGD have been used to annotate SLC7A9
  • Curation Notes: ClinVar Annotator: match by term: Cystinuria
  • Original References(s): PMID:28492532


  • An association has been curated linking SLC7A9 and cystinuria 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:11626666|RGD:11626748|RGD:11630477|RGD:126912986|RGD:127242712|RGD:127298051|RGD:127301912|RGD:127318534|RGD:127320614|RGD:15102866|RGD:15136308|RGD:15141823|RGD:151829799|RGD:151835397|RGD:152031925|RGD:152065305|RGD:152074871|RGD:152142409|RGD:156153487|RGD:156185663|RGD:38463591|RGD:405066495|RGD:405067447 (Homo sapiens) & RGD:11626666|RGD:11626748|RGD:11630477|RGD:126912986|RGD:127242712|RGD:127298051|RGD:127301912|RGD:127318534|RGD:127320614|RGD:15102866|RGD:15136308|RGD:15141823|RGD:151829799|RGD:151835397|RGD:152031925|RGD:152065305|RGD:152074871|RGD:152142409|RGD:156153487|RGD:156185663|RGD:38463591|RGD:405066495|RGD:405067447 (Homo sapiens) & RGD:11626666|RGD:11626748|RGD:11630477|RGD:126912986|RGD:127242712|RGD:127298051|RGD:127301912|RGD:127318534|RGD:127320614|RGD:15102866|RGD:15136308|RGD:15141823|RGD:151829799|RGD:151835397|RGD:152031925|RGD:152065305|RGD:152074871|RGD:152142409|RGD:156153487|RGD:156185663|RGD:38463591|RGD:405066495|RGD:405067447 (Homo sapiens) & RGD:11626666|RGD:11626748|RGD:11630477|RGD:126912986|RGD:127242712|RGD:127298051|RGD:127301912|RGD:127318534|RGD:127320614|RGD:15102866|RGD:15136308|RGD:15141823|RGD:151829799|RGD:151835397|RGD:152031925|RGD:152065305|RGD:152074871|RGD:152142409|RGD:156153487|RGD:156185663|RGD:38463591|RGD:405066495|RGD:405067447 (Homo sapiens) & RGD:11626666|RGD:11626748|RGD:11630477|RGD:126912986|RGD:127242712|RGD:127298051|RGD:127301912|RGD:127318534|RGD:127320614|RGD:15102866|RGD:15136308|RGD:15141823|RGD:151829799|RGD:151835397|RGD:152031925|RGD:152065305|RGD:152074871|RGD:152142409|RGD:156153487|RGD:156185663|RGD:38463591|RGD:405066495|RGD:405067447 (Homo sapiens) & RGD:11626666|RGD:11626748|RGD:11630477|RGD:126912986|RGD:127242712|RGD:127298051|RGD:127301912|RGD:127318534|RGD:127320614|RGD:15102866|RGD:15136308|RGD:15141823|RGD:151829799|RGD:151835397|RGD:152031925|RGD:152065305|RGD:152074871|RGD:152142409|RGD:156153487|RGD:156185663|RGD:38463591|RGD:405066495|RGD:405067447 (Homo sapiens) & RGD:11626666|RGD:11626748|RGD:11630477|RGD:126912986|RGD:127242712|RGD:127298051|RGD:127301912|RGD:127318534|RGD:127320614|RGD:15102866|RGD:15136308|RGD:15141823|RGD:151829799|RGD:151835397|RGD:152031925|RGD:152065305|RGD:152074871|RGD:152142409|RGD:156153487|RGD:156185663|RGD:38463591|RGD:405066495|RGD:405067447 (Homo sapiens) & RGD:11626666|RGD:11626748|RGD:11630477|RGD:126912986|RGD:127242712|RGD:127298051|RGD:127301912|RGD:127318534|RGD:127320614|RGD:15102866|RGD:15136308|RGD:15141823|RGD:151829799|RGD:151835397|RGD:152031925|RGD:152065305|RGD:152074871|RGD:152142409|RGD:156153487|RGD:156185663|RGD:38463591|RGD:405066495|RGD:405067447 (Homo sapiens) & RGD:11626666|RGD:11626748|RGD:11630477|RGD:126912986|RGD:127242712|RGD:127298051|RGD:127301912|RGD:127318534|RGD:127320614|RGD:15102866|RGD:15136308|RGD:15141823|RGD:151829799|RGD:151835397|RGD:152031925|RGD:152065305|RGD:152074871|RGD:152142409|RGD:156153487|RGD:156185663|RGD:38463591|RGD:405066495|RGD:405067447 (Homo sapiens) & RGD:11626666|RGD:11626748|RGD:11630477|RGD:126912986|RGD:127242712|RGD:127298051|RGD:127301912|RGD:127318534|RGD:127320614|RGD:15102866|RGD:15136308|RGD:15141823|RGD:151829799|RGD:151835397|RGD:152031925|RGD:152065305|RGD:152074871|RGD:152142409|RGD:156153487|RGD:156185663|RGD:38463591|RGD:405066495|RGD:405067447 (Homo sapiens) & RGD:11626666|RGD:11626748|RGD:11630477|RGD:126912986|RGD:127242712|RGD:127298051|RGD:127301912|RGD:127318534|RGD:127320614|RGD:15102866|RGD:15136308|RGD:15141823|RGD:151829799|RGD:151835397|RGD:152031925|RGD:152065305|RGD:152074871|RGD:152142409|RGD:156153487|RGD:156185663|RGD:38463591|RGD:405066495|RGD:405067447 (Homo sapiens) & RGD:11626666|RGD:11626748|RGD:11630477|RGD:126912986|RGD:127242712|RGD:127298051|RGD:127301912|RGD:127318534|RGD:127320614|RGD:15102866|RGD:15136308|RGD:15141823|RGD:151829799|RGD:151835397|RGD:152031925|RGD:152065305|RGD:152074871|RGD:152142409|RGD:156153487|RGD:156185663|RGD:38463591|RGD:405066495|RGD:405067447 (Homo sapiens) & RGD:11626666|RGD:11626748|RGD:11630477|RGD:126912986|RGD:127242712|RGD:127298051|RGD:127301912|RGD:127318534|RGD:127320614|RGD:15102866|RGD:15136308|RGD:15141823|RGD:151829799|RGD:151835397|RGD:152031925|RGD:152065305|RGD:152074871|RGD:152142409|RGD:156153487|RGD:156185663|RGD:38463591|RGD:405066495|RGD:405067447 (Homo sapiens) & RGD:11626666|RGD:11626748|RGD:11630477|RGD:126912986|RGD:127242712|RGD:127298051|RGD:127301912|RGD:127318534|RGD:127320614|RGD:15102866|RGD:15136308|RGD:15141823|RGD:151829799|RGD:151835397|RGD:152031925|RGD:152065305|RGD:152074871|RGD:152142409|RGD:156153487|RGD:156185663|RGD:38463591|RGD:405066495|RGD:405067447 (Homo sapiens) & RGD:11626666|RGD:11626748|RGD:11630477|RGD:126912986|RGD:127242712|RGD:127298051|RGD:127301912|RGD:127318534|RGD:127320614|RGD:15102866|RGD:15136308|RGD:15141823|RGD:151829799|RGD:151835397|RGD:152031925|RGD:152065305|RGD:152074871|RGD:152142409|RGD:156153487|RGD:156185663|RGD:38463591|RGD:405066495|RGD:405067447 (Homo sapiens) & RGD:11626666|RGD:11626748|RGD:11630477|RGD:126912986|RGD:127242712|RGD:127298051|RGD:127301912|RGD:127318534|RGD:127320614|RGD:15102866|RGD:15136308|RGD:15141823|RGD:151829799|RGD:151835397|RGD:152031925|RGD:152065305|RGD:152074871|RGD:152142409|RGD:156153487|RGD:156185663|RGD:38463591|RGD:405066495|RGD:405067447 (Homo sapiens) & RGD:11626666|RGD:11626748|RGD:11630477|RGD:126912986|RGD:127242712|RGD:127298051|RGD:127301912|RGD:127318534|RGD:127320614|RGD:15102866|RGD:15136308|RGD:15141823|RGD:151829799|RGD:151835397|RGD:152031925|RGD:152065305|RGD:152074871|RGD:152142409|RGD:156153487|RGD:156185663|RGD:38463591|RGD:405066495|RGD:405067447 (Homo sapiens) & RGD:11626666|RGD:11626748|RGD:11630477|RGD:126912986|RGD:127242712|RGD:127298051|RGD:127301912|RGD:127318534|RGD:127320614|RGD:15102866|RGD:15136308|RGD:15141823|RGD:151829799|RGD:151835397|RGD:152031925|RGD:152065305|RGD:152074871|RGD:152142409|RGD:156153487|RGD:156185663|RGD:38463591|RGD:405066495|RGD:405067447 (Homo sapiens) & RGD:11626666|RGD:11626748|RGD:11630477|RGD:126912986|RGD:127242712|RGD:127298051|RGD:127301912|RGD:127318534|RGD:127320614|RGD:15102866|RGD:15136308|RGD:15141823|RGD:151829799|RGD:151835397|RGD:152031925|RGD:152065305|RGD:152074871|RGD:152142409|RGD:156153487|RGD:156185663|RGD:38463591|RGD:405066495|RGD:405067447 (Homo sapiens) & RGD:11626666|RGD:11626748|RGD:11630477|RGD:126912986|RGD:127242712|RGD:127298051|RGD:127301912|RGD:127318534|RGD:127320614|RGD:15102866|RGD:15136308|RGD:15141823|RGD:151829799|RGD:151835397|RGD:152031925|RGD:152065305|RGD:152074871|RGD:152142409|RGD:156153487|RGD:156185663|RGD:38463591|RGD:405066495|RGD:405067447 (Homo sapiens) & RGD:11626666|RGD:11626748|RGD:11630477|RGD:126912986|RGD:127242712|RGD:127298051|RGD:127301912|RGD:127318534|RGD:127320614|RGD:15102866|RGD:15136308|RGD:15141823|RGD:151829799|RGD:151835397|RGD:152031925|RGD:152065305|RGD:152074871|RGD:152142409|RGD:156153487|RGD:156185663|RGD:38463591|RGD:405066495|RGD:405067447 (Homo sapiens) & RGD:11626666|RGD:11626748|RGD:11630477|RGD:126912986|RGD:127242712|RGD:127298051|RGD:127301912|RGD:127318534|RGD:127320614|RGD:15102866|RGD:15136308|RGD:15141823|RGD:151829799|RGD:151835397|RGD:152031925|RGD:152065305|RGD:152074871|RGD:152142409|RGD:156153487|RGD:156185663|RGD:38463591|RGD:405066495|RGD:405067447 (Homo sapiens) & RGD:11626666|RGD:11626748|RGD:11630477|RGD:126912986|RGD:127242712|RGD:127298051|RGD:127301912|RGD:127318534|RGD:127320614|RGD:15102866|RGD:15136308|RGD:15141823|RGD:151829799|RGD:151835397|RGD:152031925|RGD:152065305|RGD:152074871|RGD:152142409|RGD:156153487|RGD:156185663|RGD:38463591|RGD:405066495|RGD:405067447 (Homo sapiens)
  • 7 RGD objects have been annotated to cystinuria  (DOID:9266)
  • 7 papers in RGD have been used to annotate SLC7A9
  • Curation Notes: ClinVar Annotator: match by term: Cystinuria | ClinVar Annotator: match by term: SLC7A9-related condition
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking SLC7A9 and cystinuria 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:11617295|RGD:11619660|RGD:126730105|RGD:126745901|RGD:12858912|RGD:150330778|RGD:150494521|RGD:150544977|RGD:150546773|RGD:152999496|RGD:243049387|RGD:243054237|RGD:243060716|RGD:243060717|RGD:243062558|RGD:28898876|RGD:28899155|RGD:38464069|RGD:401872879|RGD:401941742|RGD:404977696|RGD:404977699 (Homo sapiens) & RGD:11617295|RGD:11619660|RGD:126730105|RGD:126745901|RGD:12858912|RGD:150330778|RGD:150494521|RGD:150544977|RGD:150546773|RGD:152999496|RGD:243049387|RGD:243054237|RGD:243060716|RGD:243060717|RGD:243062558|RGD:28898876|RGD:28899155|RGD:38464069|RGD:401872879|RGD:401941742|RGD:404977696|RGD:404977699 (Homo sapiens) & RGD:11617295|RGD:11619660|RGD:126730105|RGD:126745901|RGD:12858912|RGD:150330778|RGD:150494521|RGD:150544977|RGD:150546773|RGD:152999496|RGD:243049387|RGD:243054237|RGD:243060716|RGD:243060717|RGD:243062558|RGD:28898876|RGD:28899155|RGD:38464069|RGD:401872879|RGD:401941742|RGD:404977696|RGD:404977699 (Homo sapiens) & RGD:11617295|RGD:11619660|RGD:126730105|RGD:126745901|RGD:12858912|RGD:150330778|RGD:150494521|RGD:150544977|RGD:150546773|RGD:152999496|RGD:243049387|RGD:243054237|RGD:243060716|RGD:243060717|RGD:243062558|RGD:28898876|RGD:28899155|RGD:38464069|RGD:401872879|RGD:401941742|RGD:404977696|RGD:404977699 (Homo sapiens) & RGD:11617295|RGD:11619660|RGD:126730105|RGD:126745901|RGD:12858912|RGD:150330778|RGD:150494521|RGD:150544977|RGD:150546773|RGD:152999496|RGD:243049387|RGD:243054237|RGD:243060716|RGD:243060717|RGD:243062558|RGD:28898876|RGD:28899155|RGD:38464069|RGD:401872879|RGD:401941742|RGD:404977696|RGD:404977699 (Homo sapiens) & RGD:11617295|RGD:11619660|RGD:126730105|RGD:126745901|RGD:12858912|RGD:150330778|RGD:150494521|RGD:150544977|RGD:150546773|RGD:152999496|RGD:243049387|RGD:243054237|RGD:243060716|RGD:243060717|RGD:243062558|RGD:28898876|RGD:28899155|RGD:38464069|RGD:401872879|RGD:401941742|RGD:404977696|RGD:404977699 (Homo sapiens) & RGD:11617295|RGD:11619660|RGD:126730105|RGD:126745901|RGD:12858912|RGD:150330778|RGD:150494521|RGD:150544977|RGD:150546773|RGD:152999496|RGD:243049387|RGD:243054237|RGD:243060716|RGD:243060717|RGD:243062558|RGD:28898876|RGD:28899155|RGD:38464069|RGD:401872879|RGD:401941742|RGD:404977696|RGD:404977699 (Homo sapiens) & RGD:11617295|RGD:11619660|RGD:126730105|RGD:126745901|RGD:12858912|RGD:150330778|RGD:150494521|RGD:150544977|RGD:150546773|RGD:152999496|RGD:243049387|RGD:243054237|RGD:243060716|RGD:243060717|RGD:243062558|RGD:28898876|RGD:28899155|RGD:38464069|RGD:401872879|RGD:401941742|RGD:404977696|RGD:404977699 (Homo sapiens) & RGD:11617295|RGD:11619660|RGD:126730105|RGD:126745901|RGD:12858912|RGD:150330778|RGD:150494521|RGD:150544977|RGD:150546773|RGD:152999496|RGD:243049387|RGD:243054237|RGD:243060716|RGD:243060717|RGD:243062558|RGD:28898876|RGD:28899155|RGD:38464069|RGD:401872879|RGD:401941742|RGD:404977696|RGD:404977699 (Homo sapiens) & RGD:11617295|RGD:11619660|RGD:126730105|RGD:126745901|RGD:12858912|RGD:150330778|RGD:150494521|RGD:150544977|RGD:150546773|RGD:152999496|RGD:243049387|RGD:243054237|RGD:243060716|RGD:243060717|RGD:243062558|RGD:28898876|RGD:28899155|RGD:38464069|RGD:401872879|RGD:401941742|RGD:404977696|RGD:404977699 (Homo sapiens) & RGD:11617295|RGD:11619660|RGD:126730105|RGD:126745901|RGD:12858912|RGD:150330778|RGD:150494521|RGD:150544977|RGD:150546773|RGD:152999496|RGD:243049387|RGD:243054237|RGD:243060716|RGD:243060717|RGD:243062558|RGD:28898876|RGD:28899155|RGD:38464069|RGD:401872879|RGD:401941742|RGD:404977696|RGD:404977699 (Homo sapiens) & RGD:11617295|RGD:11619660|RGD:126730105|RGD:126745901|RGD:12858912|RGD:150330778|RGD:150494521|RGD:150544977|RGD:150546773|RGD:152999496|RGD:243049387|RGD:243054237|RGD:243060716|RGD:243060717|RGD:243062558|RGD:28898876|RGD:28899155|RGD:38464069|RGD:401872879|RGD:401941742|RGD:404977696|RGD:404977699 (Homo sapiens) & RGD:11617295|RGD:11619660|RGD:126730105|RGD:126745901|RGD:12858912|RGD:150330778|RGD:150494521|RGD:150544977|RGD:150546773|RGD:152999496|RGD:243049387|RGD:243054237|RGD:243060716|RGD:243060717|RGD:243062558|RGD:28898876|RGD:28899155|RGD:38464069|RGD:401872879|RGD:401941742|RGD:404977696|RGD:404977699 (Homo sapiens) & RGD:11617295|RGD:11619660|RGD:126730105|RGD:126745901|RGD:12858912|RGD:150330778|RGD:150494521|RGD:150544977|RGD:150546773|RGD:152999496|RGD:243049387|RGD:243054237|RGD:243060716|RGD:243060717|RGD:243062558|RGD:28898876|RGD:28899155|RGD:38464069|RGD:401872879|RGD:401941742|RGD:404977696|RGD:404977699 (Homo sapiens) & RGD:11617295|RGD:11619660|RGD:126730105|RGD:126745901|RGD:12858912|RGD:150330778|RGD:150494521|RGD:150544977|RGD:150546773|RGD:152999496|RGD:243049387|RGD:243054237|RGD:243060716|RGD:243060717|RGD:243062558|RGD:28898876|RGD:28899155|RGD:38464069|RGD:401872879|RGD:401941742|RGD:404977696|RGD:404977699 (Homo sapiens) & RGD:11617295|RGD:11619660|RGD:126730105|RGD:126745901|RGD:12858912|RGD:150330778|RGD:150494521|RGD:150544977|RGD:150546773|RGD:152999496|RGD:243049387|RGD:243054237|RGD:243060716|RGD:243060717|RGD:243062558|RGD:28898876|RGD:28899155|RGD:38464069|RGD:401872879|RGD:401941742|RGD:404977696|RGD:404977699 (Homo sapiens) & RGD:11617295|RGD:11619660|RGD:126730105|RGD:126745901|RGD:12858912|RGD:150330778|RGD:150494521|RGD:150544977|RGD:150546773|RGD:152999496|RGD:243049387|RGD:243054237|RGD:243060716|RGD:243060717|RGD:243062558|RGD:28898876|RGD:28899155|RGD:38464069|RGD:401872879|RGD:401941742|RGD:404977696|RGD:404977699 (Homo sapiens) & RGD:11617295|RGD:11619660|RGD:126730105|RGD:126745901|RGD:12858912|RGD:150330778|RGD:150494521|RGD:150544977|RGD:150546773|RGD:152999496|RGD:243049387|RGD:243054237|RGD:243060716|RGD:243060717|RGD:243062558|RGD:28898876|RGD:28899155|RGD:38464069|RGD:401872879|RGD:401941742|RGD:404977696|RGD:404977699 (Homo sapiens) & RGD:11617295|RGD:11619660|RGD:126730105|RGD:126745901|RGD:12858912|RGD:150330778|RGD:150494521|RGD:150544977|RGD:150546773|RGD:152999496|RGD:243049387|RGD:243054237|RGD:243060716|RGD:243060717|RGD:243062558|RGD:28898876|RGD:28899155|RGD:38464069|RGD:401872879|RGD:401941742|RGD:404977696|RGD:404977699 (Homo sapiens) & RGD:11617295|RGD:11619660|RGD:126730105|RGD:126745901|RGD:12858912|RGD:150330778|RGD:150494521|RGD:150544977|RGD:150546773|RGD:152999496|RGD:243049387|RGD:243054237|RGD:243060716|RGD:243060717|RGD:243062558|RGD:28898876|RGD:28899155|RGD:38464069|RGD:401872879|RGD:401941742|RGD:404977696|RGD:404977699 (Homo sapiens) & RGD:11617295|RGD:11619660|RGD:126730105|RGD:126745901|RGD:12858912|RGD:150330778|RGD:150494521|RGD:150544977|RGD:150546773|RGD:152999496|RGD:243049387|RGD:243054237|RGD:243060716|RGD:243060717|RGD:243062558|RGD:28898876|RGD:28899155|RGD:38464069|RGD:401872879|RGD:401941742|RGD:404977696|RGD:404977699 (Homo sapiens) & RGD:11617295|RGD:11619660|RGD:126730105|RGD:126745901|RGD:12858912|RGD:150330778|RGD:150494521|RGD:150544977|RGD:150546773|RGD:152999496|RGD:243049387|RGD:243054237|RGD:243060716|RGD:243060717|RGD:243062558|RGD:28898876|RGD:28899155|RGD:38464069|RGD:401872879|RGD:401941742|RGD:404977696|RGD:404977699 (Homo sapiens)
  • 7 RGD objects have been annotated to cystinuria  (DOID:9266)
  • 7 papers in RGD have been used to annotate SLC7A9
  • Curation Notes: ClinVar Annotator: match by term: Cystinuria | ClinVar Annotator: match by term: SLC7A9-related condition
  • Original References(s): PMID:25741868


  • An association has been curated linking SLC7A9 and cystinuria 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:8596908 (Homo sapiens)
  • 7 RGD objects have been annotated to cystinuria  (DOID:9266)
  • 7 papers in RGD have been used to annotate SLC7A9
  • Curation Notes: ClinVar Annotator: match by term: Cystinuria
  • Original References(s): PMID:10471498 PMID:11157794 PMID:12036192 PMID:15635077 PMID:16138908 PMID:16225397 PMID:16834950 PMID:16838140 PMID:19782624 PMID:21677404 PMID:23532419 PMID:25296721 PMID:25741868 PMID:25964309 PMID:26123750 PMID:28492532 PMID:28717662 PMID:33964006 PMID:34805638


  • An association has been curated linking SLC7A9 and cystinuria 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:243060718 (Homo sapiens)
  • 7 RGD objects have been annotated to cystinuria  (DOID:9266)
  • 7 papers in RGD have been used to annotate SLC7A9
  • Curation Notes: ClinVar Annotator: match by term: Cystinuria
  • Original References(s): PMID:25109415 PMID:25741868 PMID:28492532 PMID:28646536


  • An association has been curated linking SLC7A9 and cystinuria 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:13799217 (Homo sapiens)
  • 7 RGD objects have been annotated to cystinuria  (DOID:9266)
  • 7 papers in RGD have been used to annotate SLC7A9
  • Curation Notes: ClinVar Annotator: match by term: Cystinuria
  • Original References(s): PMID:11157794 PMID:25296721 PMID:25741868 PMID:28492532


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