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GENE - TERM ANNOTATION REPORT

18 Annotations Found.

An association has been curated linking TMEM216 and Joubert Syndrome 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Edvardson S, etal., Am J Hum Genet. 2010 Jan;86(1):93-7. doi: 10.1016/j.ajhg.2009.12.007. Epub 2009 Dec 31.
  • 5 additional annotations were made from Edvardson S, etal., Am J Hum Genet. 2010 Jan;86(1):93-7. doi: 10.1016/j.ajhg.2009.12.007. Epub 2009 Dec 31.
  • 1 RGD objects have been annotated to Joubert Syndrome 2  (DOID:0110988)
  • 6 papers in RGD have been used to annotate TMEM216
  • Curation Notes: DNA:misense mutation:exon:c.35G>T(p.R12L)(human)


    • An association has been curated linking TMEM216 and Joubert Syndrome 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 1 RGD objects have been annotated to Joubert Syndrome 2  (DOID:0110988)
  • 6 papers in RGD have been used to annotate TMEM216


    • An association has been curated linking TMEM216 and Joubert Syndrome 2 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:8594888 (Homo sapiens)
  • 1 RGD objects have been annotated to Joubert Syndrome 2  (DOID:0110988)
  • 6 papers in RGD have been used to annotate TMEM216
  • Curation Notes: ClinVar Annotator: match by term: Cerebellooculorenal syndrome 2
  • Original References(s): PMID:20036350 PMID:20301500 PMID:20512146 PMID:22282472 PMID:24033266 PMID:25741868 PMID:26092869 PMID:26673778 PMID:28492532


    • An association has been curated linking TMEM216 and Joubert Syndrome 2 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:10448708 (Homo sapiens)
  • 1 RGD objects have been annotated to Joubert Syndrome 2  (DOID:0110988)
  • 6 papers in RGD have been used to annotate TMEM216
  • Curation Notes: ClinVar Annotator: match by term: Joubert syndrome 2
  • Original References(s): PMID:26092869 PMID:28492532


    • An association has been curated linking TMEM216 and Joubert Syndrome 2 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:8591182 (Homo sapiens)
  • 1 RGD objects have been annotated to Joubert Syndrome 2  (DOID:0110988)
  • 6 papers in RGD have been used to annotate TMEM216
  • Curation Notes: ClinVar Annotator: match by term: Joubert syndrome 2
  • Original References(s): PMID:18414213 PMID:25741868 PMID:28492532


    • An association has been curated linking TMEM216 and Joubert Syndrome 2 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:8591181 (Homo sapiens)
  • 1 RGD objects have been annotated to Joubert Syndrome 2  (DOID:0110988)
  • 6 papers in RGD have been used to annotate TMEM216
  • Curation Notes: ClinVar Annotator: match by term: Joubert syndrome 2
  • Original References(s): PMID:25741868 PMID:26467025 PMID:28492532


    • An association has been curated linking TMEM216 and Joubert Syndrome 2 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:10448701 (Homo sapiens)
  • 1 RGD objects have been annotated to Joubert Syndrome 2  (DOID:0110988)
  • 6 papers in RGD have been used to annotate TMEM216
  • Curation Notes: ClinVar Annotator: match by term: Cerebellooculorenal syndrome 2
  • Original References(s): PMID:20512146 PMID:25741868 PMID:26092869 PMID:28492532


    • An association has been curated linking TMEM216 and Joubert Syndrome 2 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:12739688 (Homo sapiens)
  • 1 RGD objects have been annotated to Joubert Syndrome 2  (DOID:0110988)
  • 6 papers in RGD have been used to annotate TMEM216
  • Curation Notes: ClinVar Annotator: match by term: Joubert syndrome 2
  • Original References(s): PMID:20512146 PMID:28492532


    • An association has been curated linking TMEM216 and Joubert Syndrome 2 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:10048484|RGD:10049394|RGD:10049395|RGD:11552044|RGD:11641250|RGD:11643912|RGD:12888440|RGD:13520239|RGD:13837355|RGD:13838359 (Homo sapiens) & RGD:10048484|RGD:10049394|RGD:10049395|RGD:11552044|RGD:11641250|RGD:11643912|RGD:12888440|RGD:13520239|RGD:13837355|RGD:13838359 (Homo sapiens) & RGD:10048484|RGD:10049394|RGD:10049395|RGD:11552044|RGD:11641250|RGD:11643912|RGD:12888440|RGD:13520239|RGD:13837355|RGD:13838359 (Homo sapiens) & RGD:10048484|RGD:10049394|RGD:10049395|RGD:11552044|RGD:11641250|RGD:11643912|RGD:12888440|RGD:13520239|RGD:13837355|RGD:13838359 (Homo sapiens) & RGD:10048484|RGD:10049394|RGD:10049395|RGD:11552044|RGD:11641250|RGD:11643912|RGD:12888440|RGD:13520239|RGD:13837355|RGD:13838359 (Homo sapiens) & RGD:10048484|RGD:10049394|RGD:10049395|RGD:11552044|RGD:11641250|RGD:11643912|RGD:12888440|RGD:13520239|RGD:13837355|RGD:13838359 (Homo sapiens) & RGD:10048484|RGD:10049394|RGD:10049395|RGD:11552044|RGD:11641250|RGD:11643912|RGD:12888440|RGD:13520239|RGD:13837355|RGD:13838359 (Homo sapiens) & RGD:10048484|RGD:10049394|RGD:10049395|RGD:11552044|RGD:11641250|RGD:11643912|RGD:12888440|RGD:13520239|RGD:13837355|RGD:13838359 (Homo sapiens) & RGD:10048484|RGD:10049394|RGD:10049395|RGD:11552044|RGD:11641250|RGD:11643912|RGD:12888440|RGD:13520239|RGD:13837355|RGD:13838359 (Homo sapiens) & RGD:10048484|RGD:10049394|RGD:10049395|RGD:11552044|RGD:11641250|RGD:11643912|RGD:12888440|RGD:13520239|RGD:13837355|RGD:13838359 (Homo sapiens)
  • 1 RGD objects have been annotated to Joubert Syndrome 2  (DOID:0110988)
  • 6 papers in RGD have been used to annotate TMEM216
  • Curation Notes: ClinVar Annotator: match by term: Cerebellooculorenal syndrome 2 | ClinVar Annotator: match by term: Joubert syndrome 2
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking TMEM216 and Joubert Syndrome 2 in Homo sapiens.        

  • The association was inferred from experiment (EXP)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • 1 RGD objects have been annotated to Joubert Syndrome 2  (DOID:0110988)
  • 6 papers in RGD have been used to annotate TMEM216
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking TMEM216 and Joubert Syndrome 2 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:11644611|RGD:11645327|RGD:11646592|RGD:11647309|RGD:11649080|RGD:11651299|RGD:11653199|RGD:11653462|RGD:11655937|RGD:11656832|RGD:11659962|RGD:12739685|RGD:13783853|RGD:13787683|RGD:13787848|RGD:13787850|RGD:13787883|RGD:13789781|RGD:13791022|RGD:13792192|RGD:28898515|RGD:28898519|RGD:28902652|RGD:28902655|RGD:28903024|RGD:28903029|RGD:28903034|RGD:28905136|RGD:28905482|RGD:40905974 (Homo sapiens) & RGD:11644611|RGD:11645327|RGD:11646592|RGD:11647309|RGD:11649080|RGD:11651299|RGD:11653199|RGD:11653462|RGD:11655937|RGD:11656832|RGD:11659962|RGD:12739685|RGD:13783853|RGD:13787683|RGD:13787848|RGD:13787850|RGD:13787883|RGD:13789781|RGD:13791022|RGD:13792192|RGD:28898515|RGD:28898519|RGD:28902652|RGD:28902655|RGD:28903024|RGD:28903029|RGD:28903034|RGD:28905136|RGD:28905482|RGD:40905974 (Homo sapiens) & RGD:11644611|RGD:11645327|RGD:11646592|RGD:11647309|RGD:11649080|RGD:11651299|RGD:11653199|RGD:11653462|RGD:11655937|RGD:11656832|RGD:11659962|RGD:12739685|RGD:13783853|RGD:13787683|RGD:13787848|RGD:13787850|RGD:13787883|RGD:13789781|RGD:13791022|RGD:13792192|RGD:28898515|RGD:28898519|RGD:28902652|RGD:28902655|RGD:28903024|RGD:28903029|RGD:28903034|RGD:28905136|RGD:28905482|RGD:40905974 (Homo sapiens) & RGD:11644611|RGD:11645327|RGD:11646592|RGD:11647309|RGD:11649080|RGD:11651299|RGD:11653199|RGD:11653462|RGD:11655937|RGD:11656832|RGD:11659962|RGD:12739685|RGD:13783853|RGD:13787683|RGD:13787848|RGD:13787850|RGD:13787883|RGD:13789781|RGD:13791022|RGD:13792192|RGD:28898515|RGD:28898519|RGD:28902652|RGD:28902655|RGD:28903024|RGD:28903029|RGD:28903034|RGD:28905136|RGD:28905482|RGD:40905974 (Homo sapiens) & RGD:11644611|RGD:11645327|RGD:11646592|RGD:11647309|RGD:11649080|RGD:11651299|RGD:11653199|RGD:11653462|RGD:11655937|RGD:11656832|RGD:11659962|RGD:12739685|RGD:13783853|RGD:13787683|RGD:13787848|RGD:13787850|RGD:13787883|RGD:13789781|RGD:13791022|RGD:13792192|RGD:28898515|RGD:28898519|RGD:28902652|RGD:28902655|RGD:28903024|RGD:28903029|RGD:28903034|RGD:28905136|RGD:28905482|RGD:40905974 (Homo sapiens) & RGD:11644611|RGD:11645327|RGD:11646592|RGD:11647309|RGD:11649080|RGD:11651299|RGD:11653199|RGD:11653462|RGD:11655937|RGD:11656832|RGD:11659962|RGD:12739685|RGD:13783853|RGD:13787683|RGD:13787848|RGD:13787850|RGD:13787883|RGD:13789781|RGD:13791022|RGD:13792192|RGD:28898515|RGD:28898519|RGD:28902652|RGD:28902655|RGD:28903024|RGD:28903029|RGD:28903034|RGD:28905136|RGD:28905482|RGD:40905974 (Homo sapiens) & RGD:11644611|RGD:11645327|RGD:11646592|RGD:11647309|RGD:11649080|RGD:11651299|RGD:11653199|RGD:11653462|RGD:11655937|RGD:11656832|RGD:11659962|RGD:12739685|RGD:13783853|RGD:13787683|RGD:13787848|RGD:13787850|RGD:13787883|RGD:13789781|RGD:13791022|RGD:13792192|RGD:28898515|RGD:28898519|RGD:28902652|RGD:28902655|RGD:28903024|RGD:28903029|RGD:28903034|RGD:28905136|RGD:28905482|RGD:40905974 (Homo sapiens) & RGD:11644611|RGD:11645327|RGD:11646592|RGD:11647309|RGD:11649080|RGD:11651299|RGD:11653199|RGD:11653462|RGD:11655937|RGD:11656832|RGD:11659962|RGD:12739685|RGD:13783853|RGD:13787683|RGD:13787848|RGD:13787850|RGD:13787883|RGD:13789781|RGD:13791022|RGD:13792192|RGD:28898515|RGD:28898519|RGD:28902652|RGD:28902655|RGD:28903024|RGD:28903029|RGD:28903034|RGD:28905136|RGD:28905482|RGD:40905974 (Homo sapiens) & RGD:11644611|RGD:11645327|RGD:11646592|RGD:11647309|RGD:11649080|RGD:11651299|RGD:11653199|RGD:11653462|RGD:11655937|RGD:11656832|RGD:11659962|RGD:12739685|RGD:13783853|RGD:13787683|RGD:13787848|RGD:13787850|RGD:13787883|RGD:13789781|RGD:13791022|RGD:13792192|RGD:28898515|RGD:28898519|RGD:28902652|RGD:28902655|RGD:28903024|RGD:28903029|RGD:28903034|RGD:28905136|RGD:28905482|RGD:40905974 (Homo sapiens) & RGD:11644611|RGD:11645327|RGD:11646592|RGD:11647309|RGD:11649080|RGD:11651299|RGD:11653199|RGD:11653462|RGD:11655937|RGD:11656832|RGD:11659962|RGD:12739685|RGD:13783853|RGD:13787683|RGD:13787848|RGD:13787850|RGD:13787883|RGD:13789781|RGD:13791022|RGD:13792192|RGD:28898515|RGD:28898519|RGD:28902652|RGD:28902655|RGD:28903024|RGD:28903029|RGD:28903034|RGD:28905136|RGD:28905482|RGD:40905974 (Homo sapiens) & RGD:11644611|RGD:11645327|RGD:11646592|RGD:11647309|RGD:11649080|RGD:11651299|RGD:11653199|RGD:11653462|RGD:11655937|RGD:11656832|RGD:11659962|RGD:12739685|RGD:13783853|RGD:13787683|RGD:13787848|RGD:13787850|RGD:13787883|RGD:13789781|RGD:13791022|RGD:13792192|RGD:28898515|RGD:28898519|RGD:28902652|RGD:28902655|RGD:28903024|RGD:28903029|RGD:28903034|RGD:28905136|RGD:28905482|RGD:40905974 (Homo sapiens) & RGD:11644611|RGD:11645327|RGD:11646592|RGD:11647309|RGD:11649080|RGD:11651299|RGD:11653199|RGD:11653462|RGD:11655937|RGD:11656832|RGD:11659962|RGD:12739685|RGD:13783853|RGD:13787683|RGD:13787848|RGD:13787850|RGD:13787883|RGD:13789781|RGD:13791022|RGD:13792192|RGD:28898515|RGD:28898519|RGD:28902652|RGD:28902655|RGD:28903024|RGD:28903029|RGD:28903034|RGD:28905136|RGD:28905482|RGD:40905974 (Homo sapiens) & RGD:11644611|RGD:11645327|RGD:11646592|RGD:11647309|RGD:11649080|RGD:11651299|RGD:11653199|RGD:11653462|RGD:11655937|RGD:11656832|RGD:11659962|RGD:12739685|RGD:13783853|RGD:13787683|RGD:13787848|RGD:13787850|RGD:13787883|RGD:13789781|RGD:13791022|RGD:13792192|RGD:28898515|RGD:28898519|RGD:28902652|RGD:28902655|RGD:28903024|RGD:28903029|RGD:28903034|RGD:28905136|RGD:28905482|RGD:40905974 (Homo sapiens) & RGD:11644611|RGD:11645327|RGD:11646592|RGD:11647309|RGD:11649080|RGD:11651299|RGD:11653199|RGD:11653462|RGD:11655937|RGD:11656832|RGD:11659962|RGD:12739685|RGD:13783853|RGD:13787683|RGD:13787848|RGD:13787850|RGD:13787883|RGD:13789781|RGD:13791022|RGD:13792192|RGD:28898515|RGD:28898519|RGD:28902652|RGD:28902655|RGD:28903024|RGD:28903029|RGD:28903034|RGD:28905136|RGD:28905482|RGD:40905974 (Homo sapiens) & RGD:11644611|RGD:11645327|RGD:11646592|RGD:11647309|RGD:11649080|RGD:11651299|RGD:11653199|RGD:11653462|RGD:11655937|RGD:11656832|RGD:11659962|RGD:12739685|RGD:13783853|RGD:13787683|RGD:13787848|RGD:13787850|RGD:13787883|RGD:13789781|RGD:13791022|RGD:13792192|RGD:28898515|RGD:28898519|RGD:28902652|RGD:28902655|RGD:28903024|RGD:28903029|RGD:28903034|RGD:28905136|RGD:28905482|RGD:40905974 (Homo sapiens) & RGD:11644611|RGD:11645327|RGD:11646592|RGD:11647309|RGD:11649080|RGD:11651299|RGD:11653199|RGD:11653462|RGD:11655937|RGD:11656832|RGD:11659962|RGD:12739685|RGD:13783853|RGD:13787683|RGD:13787848|RGD:13787850|RGD:13787883|RGD:13789781|RGD:13791022|RGD:13792192|RGD:28898515|RGD:28898519|RGD:28902652|RGD:28902655|RGD:28903024|RGD:28903029|RGD:28903034|RGD:28905136|RGD:28905482|RGD:40905974 (Homo sapiens) & RGD:11644611|RGD:11645327|RGD:11646592|RGD:11647309|RGD:11649080|RGD:11651299|RGD:11653199|RGD:11653462|RGD:11655937|RGD:11656832|RGD:11659962|RGD:12739685|RGD:13783853|RGD:13787683|RGD:13787848|RGD:13787850|RGD:13787883|RGD:13789781|RGD:13791022|RGD:13792192|RGD:28898515|RGD:28898519|RGD:28902652|RGD:28902655|RGD:28903024|RGD:28903029|RGD:28903034|RGD:28905136|RGD:28905482|RGD:40905974 (Homo sapiens) & RGD:11644611|RGD:11645327|RGD:11646592|RGD:11647309|RGD:11649080|RGD:11651299|RGD:11653199|RGD:11653462|RGD:11655937|RGD:11656832|RGD:11659962|RGD:12739685|RGD:13783853|RGD:13787683|RGD:13787848|RGD:13787850|RGD:13787883|RGD:13789781|RGD:13791022|RGD:13792192|RGD:28898515|RGD:28898519|RGD:28902652|RGD:28902655|RGD:28903024|RGD:28903029|RGD:28903034|RGD:28905136|RGD:28905482|RGD:40905974 (Homo sapiens) & RGD:11644611|RGD:11645327|RGD:11646592|RGD:11647309|RGD:11649080|RGD:11651299|RGD:11653199|RGD:11653462|RGD:11655937|RGD:11656832|RGD:11659962|RGD:12739685|RGD:13783853|RGD:13787683|RGD:13787848|RGD:13787850|RGD:13787883|RGD:13789781|RGD:13791022|RGD:13792192|RGD:28898515|RGD:28898519|RGD:28902652|RGD:28902655|RGD:28903024|RGD:28903029|RGD:28903034|RGD:28905136|RGD:28905482|RGD:40905974 (Homo sapiens) & RGD:11644611|RGD:11645327|RGD:11646592|RGD:11647309|RGD:11649080|RGD:11651299|RGD:11653199|RGD:11653462|RGD:11655937|RGD:11656832|RGD:11659962|RGD:12739685|RGD:13783853|RGD:13787683|RGD:13787848|RGD:13787850|RGD:13787883|RGD:13789781|RGD:13791022|RGD:13792192|RGD:28898515|RGD:28898519|RGD:28902652|RGD:28902655|RGD:28903024|RGD:28903029|RGD:28903034|RGD:28905136|RGD:28905482|RGD:40905974 (Homo sapiens) & RGD:11644611|RGD:11645327|RGD:11646592|RGD:11647309|RGD:11649080|RGD:11651299|RGD:11653199|RGD:11653462|RGD:11655937|RGD:11656832|RGD:11659962|RGD:12739685|RGD:13783853|RGD:13787683|RGD:13787848|RGD:13787850|RGD:13787883|RGD:13789781|RGD:13791022|RGD:13792192|RGD:28898515|RGD:28898519|RGD:28902652|RGD:28902655|RGD:28903024|RGD:28903029|RGD:28903034|RGD:28905136|RGD:28905482|RGD:40905974 (Homo sapiens) & RGD:11644611|RGD:11645327|RGD:11646592|RGD:11647309|RGD:11649080|RGD:11651299|RGD:11653199|RGD:11653462|RGD:11655937|RGD:11656832|RGD:11659962|RGD:12739685|RGD:13783853|RGD:13787683|RGD:13787848|RGD:13787850|RGD:13787883|RGD:13789781|RGD:13791022|RGD:13792192|RGD:28898515|RGD:28898519|RGD:28902652|RGD:28902655|RGD:28903024|RGD:28903029|RGD:28903034|RGD:28905136|RGD:28905482|RGD:40905974 (Homo sapiens) & RGD:11644611|RGD:11645327|RGD:11646592|RGD:11647309|RGD:11649080|RGD:11651299|RGD:11653199|RGD:11653462|RGD:11655937|RGD:11656832|RGD:11659962|RGD:12739685|RGD:13783853|RGD:13787683|RGD:13787848|RGD:13787850|RGD:13787883|RGD:13789781|RGD:13791022|RGD:13792192|RGD:28898515|RGD:28898519|RGD:28902652|RGD:28902655|RGD:28903024|RGD:28903029|RGD:28903034|RGD:28905136|RGD:28905482|RGD:40905974 (Homo sapiens) & RGD:11644611|RGD:11645327|RGD:11646592|RGD:11647309|RGD:11649080|RGD:11651299|RGD:11653199|RGD:11653462|RGD:11655937|RGD:11656832|RGD:11659962|RGD:12739685|RGD:13783853|RGD:13787683|RGD:13787848|RGD:13787850|RGD:13787883|RGD:13789781|RGD:13791022|RGD:13792192|RGD:28898515|RGD:28898519|RGD:28902652|RGD:28902655|RGD:28903024|RGD:28903029|RGD:28903034|RGD:28905136|RGD:28905482|RGD:40905974 (Homo sapiens) & RGD:11644611|RGD:11645327|RGD:11646592|RGD:11647309|RGD:11649080|RGD:11651299|RGD:11653199|RGD:11653462|RGD:11655937|RGD:11656832|RGD:11659962|RGD:12739685|RGD:13783853|RGD:13787683|RGD:13787848|RGD:13787850|RGD:13787883|RGD:13789781|RGD:13791022|RGD:13792192|RGD:28898515|RGD:28898519|RGD:28902652|RGD:28902655|RGD:28903024|RGD:28903029|RGD:28903034|RGD:28905136|RGD:28905482|RGD:40905974 (Homo sapiens) & RGD:11644611|RGD:11645327|RGD:11646592|RGD:11647309|RGD:11649080|RGD:11651299|RGD:11653199|RGD:11653462|RGD:11655937|RGD:11656832|RGD:11659962|RGD:12739685|RGD:13783853|RGD:13787683|RGD:13787848|RGD:13787850|RGD:13787883|RGD:13789781|RGD:13791022|RGD:13792192|RGD:28898515|RGD:28898519|RGD:28902652|RGD:28902655|RGD:28903024|RGD:28903029|RGD:28903034|RGD:28905136|RGD:28905482|RGD:40905974 (Homo sapiens) & RGD:11644611|RGD:11645327|RGD:11646592|RGD:11647309|RGD:11649080|RGD:11651299|RGD:11653199|RGD:11653462|RGD:11655937|RGD:11656832|RGD:11659962|RGD:12739685|RGD:13783853|RGD:13787683|RGD:13787848|RGD:13787850|RGD:13787883|RGD:13789781|RGD:13791022|RGD:13792192|RGD:28898515|RGD:28898519|RGD:28902652|RGD:28902655|RGD:28903024|RGD:28903029|RGD:28903034|RGD:28905136|RGD:28905482|RGD:40905974 (Homo sapiens) & RGD:11644611|RGD:11645327|RGD:11646592|RGD:11647309|RGD:11649080|RGD:11651299|RGD:11653199|RGD:11653462|RGD:11655937|RGD:11656832|RGD:11659962|RGD:12739685|RGD:13783853|RGD:13787683|RGD:13787848|RGD:13787850|RGD:13787883|RGD:13789781|RGD:13791022|RGD:13792192|RGD:28898515|RGD:28898519|RGD:28902652|RGD:28902655|RGD:28903024|RGD:28903029|RGD:28903034|RGD:28905136|RGD:28905482|RGD:40905974 (Homo sapiens) & RGD:11644611|RGD:11645327|RGD:11646592|RGD:11647309|RGD:11649080|RGD:11651299|RGD:11653199|RGD:11653462|RGD:11655937|RGD:11656832|RGD:11659962|RGD:12739685|RGD:13783853|RGD:13787683|RGD:13787848|RGD:13787850|RGD:13787883|RGD:13789781|RGD:13791022|RGD:13792192|RGD:28898515|RGD:28898519|RGD:28902652|RGD:28902655|RGD:28903024|RGD:28903029|RGD:28903034|RGD:28905136|RGD:28905482|RGD:40905974 (Homo sapiens) & RGD:11644611|RGD:11645327|RGD:11646592|RGD:11647309|RGD:11649080|RGD:11651299|RGD:11653199|RGD:11653462|RGD:11655937|RGD:11656832|RGD:11659962|RGD:12739685|RGD:13783853|RGD:13787683|RGD:13787848|RGD:13787850|RGD:13787883|RGD:13789781|RGD:13791022|RGD:13792192|RGD:28898515|RGD:28898519|RGD:28902652|RGD:28902655|RGD:28903024|RGD:28903029|RGD:28903034|RGD:28905136|RGD:28905482|RGD:40905974 (Homo sapiens)
  • 1 RGD objects have been annotated to Joubert Syndrome 2  (DOID:0110988)
  • 6 papers in RGD have been used to annotate TMEM216
  • Curation Notes: ClinVar Annotator: match by term: Joubert syndrome 2


    • An association has been curated linking TMEM216 and Joubert Syndrome 2 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:11544189|RGD:11550361|RGD:11648317|RGD:12740185|RGD:13836755|RGD:150335975|RGD:151663152|RGD:401945570|RGD:401945576|RGD:401945582|RGD:401947765|RGD:401947767 (Homo sapiens) & RGD:11544189|RGD:11550361|RGD:11648317|RGD:12740185|RGD:13836755|RGD:150335975|RGD:151663152|RGD:401945570|RGD:401945576|RGD:401945582|RGD:401947765|RGD:401947767 (Homo sapiens) & RGD:11544189|RGD:11550361|RGD:11648317|RGD:12740185|RGD:13836755|RGD:150335975|RGD:151663152|RGD:401945570|RGD:401945576|RGD:401945582|RGD:401947765|RGD:401947767 (Homo sapiens) & RGD:11544189|RGD:11550361|RGD:11648317|RGD:12740185|RGD:13836755|RGD:150335975|RGD:151663152|RGD:401945570|RGD:401945576|RGD:401945582|RGD:401947765|RGD:401947767 (Homo sapiens) & RGD:11544189|RGD:11550361|RGD:11648317|RGD:12740185|RGD:13836755|RGD:150335975|RGD:151663152|RGD:401945570|RGD:401945576|RGD:401945582|RGD:401947765|RGD:401947767 (Homo sapiens) & RGD:11544189|RGD:11550361|RGD:11648317|RGD:12740185|RGD:13836755|RGD:150335975|RGD:151663152|RGD:401945570|RGD:401945576|RGD:401945582|RGD:401947765|RGD:401947767 (Homo sapiens) & RGD:11544189|RGD:11550361|RGD:11648317|RGD:12740185|RGD:13836755|RGD:150335975|RGD:151663152|RGD:401945570|RGD:401945576|RGD:401945582|RGD:401947765|RGD:401947767 (Homo sapiens) & RGD:11544189|RGD:11550361|RGD:11648317|RGD:12740185|RGD:13836755|RGD:150335975|RGD:151663152|RGD:401945570|RGD:401945576|RGD:401945582|RGD:401947765|RGD:401947767 (Homo sapiens) & RGD:11544189|RGD:11550361|RGD:11648317|RGD:12740185|RGD:13836755|RGD:150335975|RGD:151663152|RGD:401945570|RGD:401945576|RGD:401945582|RGD:401947765|RGD:401947767 (Homo sapiens) & RGD:11544189|RGD:11550361|RGD:11648317|RGD:12740185|RGD:13836755|RGD:150335975|RGD:151663152|RGD:401945570|RGD:401945576|RGD:401945582|RGD:401947765|RGD:401947767 (Homo sapiens) & RGD:11544189|RGD:11550361|RGD:11648317|RGD:12740185|RGD:13836755|RGD:150335975|RGD:151663152|RGD:401945570|RGD:401945576|RGD:401945582|RGD:401947765|RGD:401947767 (Homo sapiens) & RGD:11544189|RGD:11550361|RGD:11648317|RGD:12740185|RGD:13836755|RGD:150335975|RGD:151663152|RGD:401945570|RGD:401945576|RGD:401945582|RGD:401947765|RGD:401947767 (Homo sapiens)
  • 1 RGD objects have been annotated to Joubert Syndrome 2  (DOID:0110988)
  • 6 papers in RGD have been used to annotate TMEM216
  • Curation Notes: ClinVar Annotator: match by term: Cerebellooculorenal syndrome 2 | ClinVar Annotator: match by term: Joubert syndrome 2
  • Original References(s): PMID:25741868


    • An association has been curated linking TMEM216 and Joubert Syndrome 2 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:11641978|RGD:11644981|RGD:11646979|RGD:11651316|RGD:11656469|RGD:126768129|RGD:126772908|RGD:13488327|RGD:13522423|RGD:13785660|RGD:15097748|RGD:15120278|RGD:15161933|RGD:26914977|RGD:26920767|RGD:26923039|RGD:28905317|RGD:38456933|RGD:40905973|RGD:40905975 (Homo sapiens) & RGD:11641978|RGD:11644981|RGD:11646979|RGD:11651316|RGD:11656469|RGD:126768129|RGD:126772908|RGD:13488327|RGD:13522423|RGD:13785660|RGD:15097748|RGD:15120278|RGD:15161933|RGD:26914977|RGD:26920767|RGD:26923039|RGD:28905317|RGD:38456933|RGD:40905973|RGD:40905975 (Homo sapiens) & RGD:11641978|RGD:11644981|RGD:11646979|RGD:11651316|RGD:11656469|RGD:126768129|RGD:126772908|RGD:13488327|RGD:13522423|RGD:13785660|RGD:15097748|RGD:15120278|RGD:15161933|RGD:26914977|RGD:26920767|RGD:26923039|RGD:28905317|RGD:38456933|RGD:40905973|RGD:40905975 (Homo sapiens) & RGD:11641978|RGD:11644981|RGD:11646979|RGD:11651316|RGD:11656469|RGD:126768129|RGD:126772908|RGD:13488327|RGD:13522423|RGD:13785660|RGD:15097748|RGD:15120278|RGD:15161933|RGD:26914977|RGD:26920767|RGD:26923039|RGD:28905317|RGD:38456933|RGD:40905973|RGD:40905975 (Homo sapiens) & RGD:11641978|RGD:11644981|RGD:11646979|RGD:11651316|RGD:11656469|RGD:126768129|RGD:126772908|RGD:13488327|RGD:13522423|RGD:13785660|RGD:15097748|RGD:15120278|RGD:15161933|RGD:26914977|RGD:26920767|RGD:26923039|RGD:28905317|RGD:38456933|RGD:40905973|RGD:40905975 (Homo sapiens) & RGD:11641978|RGD:11644981|RGD:11646979|RGD:11651316|RGD:11656469|RGD:126768129|RGD:126772908|RGD:13488327|RGD:13522423|RGD:13785660|RGD:15097748|RGD:15120278|RGD:15161933|RGD:26914977|RGD:26920767|RGD:26923039|RGD:28905317|RGD:38456933|RGD:40905973|RGD:40905975 (Homo sapiens) & RGD:11641978|RGD:11644981|RGD:11646979|RGD:11651316|RGD:11656469|RGD:126768129|RGD:126772908|RGD:13488327|RGD:13522423|RGD:13785660|RGD:15097748|RGD:15120278|RGD:15161933|RGD:26914977|RGD:26920767|RGD:26923039|RGD:28905317|RGD:38456933|RGD:40905973|RGD:40905975 (Homo sapiens) & RGD:11641978|RGD:11644981|RGD:11646979|RGD:11651316|RGD:11656469|RGD:126768129|RGD:126772908|RGD:13488327|RGD:13522423|RGD:13785660|RGD:15097748|RGD:15120278|RGD:15161933|RGD:26914977|RGD:26920767|RGD:26923039|RGD:28905317|RGD:38456933|RGD:40905973|RGD:40905975 (Homo sapiens) & RGD:11641978|RGD:11644981|RGD:11646979|RGD:11651316|RGD:11656469|RGD:126768129|RGD:126772908|RGD:13488327|RGD:13522423|RGD:13785660|RGD:15097748|RGD:15120278|RGD:15161933|RGD:26914977|RGD:26920767|RGD:26923039|RGD:28905317|RGD:38456933|RGD:40905973|RGD:40905975 (Homo sapiens) & RGD:11641978|RGD:11644981|RGD:11646979|RGD:11651316|RGD:11656469|RGD:126768129|RGD:126772908|RGD:13488327|RGD:13522423|RGD:13785660|RGD:15097748|RGD:15120278|RGD:15161933|RGD:26914977|RGD:26920767|RGD:26923039|RGD:28905317|RGD:38456933|RGD:40905973|RGD:40905975 (Homo sapiens) & RGD:11641978|RGD:11644981|RGD:11646979|RGD:11651316|RGD:11656469|RGD:126768129|RGD:126772908|RGD:13488327|RGD:13522423|RGD:13785660|RGD:15097748|RGD:15120278|RGD:15161933|RGD:26914977|RGD:26920767|RGD:26923039|RGD:28905317|RGD:38456933|RGD:40905973|RGD:40905975 (Homo sapiens) & RGD:11641978|RGD:11644981|RGD:11646979|RGD:11651316|RGD:11656469|RGD:126768129|RGD:126772908|RGD:13488327|RGD:13522423|RGD:13785660|RGD:15097748|RGD:15120278|RGD:15161933|RGD:26914977|RGD:26920767|RGD:26923039|RGD:28905317|RGD:38456933|RGD:40905973|RGD:40905975 (Homo sapiens) & RGD:11641978|RGD:11644981|RGD:11646979|RGD:11651316|RGD:11656469|RGD:126768129|RGD:126772908|RGD:13488327|RGD:13522423|RGD:13785660|RGD:15097748|RGD:15120278|RGD:15161933|RGD:26914977|RGD:26920767|RGD:26923039|RGD:28905317|RGD:38456933|RGD:40905973|RGD:40905975 (Homo sapiens) & RGD:11641978|RGD:11644981|RGD:11646979|RGD:11651316|RGD:11656469|RGD:126768129|RGD:126772908|RGD:13488327|RGD:13522423|RGD:13785660|RGD:15097748|RGD:15120278|RGD:15161933|RGD:26914977|RGD:26920767|RGD:26923039|RGD:28905317|RGD:38456933|RGD:40905973|RGD:40905975 (Homo sapiens) & RGD:11641978|RGD:11644981|RGD:11646979|RGD:11651316|RGD:11656469|RGD:126768129|RGD:126772908|RGD:13488327|RGD:13522423|RGD:13785660|RGD:15097748|RGD:15120278|RGD:15161933|RGD:26914977|RGD:26920767|RGD:26923039|RGD:28905317|RGD:38456933|RGD:40905973|RGD:40905975 (Homo sapiens) & RGD:11641978|RGD:11644981|RGD:11646979|RGD:11651316|RGD:11656469|RGD:126768129|RGD:126772908|RGD:13488327|RGD:13522423|RGD:13785660|RGD:15097748|RGD:15120278|RGD:15161933|RGD:26914977|RGD:26920767|RGD:26923039|RGD:28905317|RGD:38456933|RGD:40905973|RGD:40905975 (Homo sapiens) & RGD:11641978|RGD:11644981|RGD:11646979|RGD:11651316|RGD:11656469|RGD:126768129|RGD:126772908|RGD:13488327|RGD:13522423|RGD:13785660|RGD:15097748|RGD:15120278|RGD:15161933|RGD:26914977|RGD:26920767|RGD:26923039|RGD:28905317|RGD:38456933|RGD:40905973|RGD:40905975 (Homo sapiens) & RGD:11641978|RGD:11644981|RGD:11646979|RGD:11651316|RGD:11656469|RGD:126768129|RGD:126772908|RGD:13488327|RGD:13522423|RGD:13785660|RGD:15097748|RGD:15120278|RGD:15161933|RGD:26914977|RGD:26920767|RGD:26923039|RGD:28905317|RGD:38456933|RGD:40905973|RGD:40905975 (Homo sapiens) & RGD:11641978|RGD:11644981|RGD:11646979|RGD:11651316|RGD:11656469|RGD:126768129|RGD:126772908|RGD:13488327|RGD:13522423|RGD:13785660|RGD:15097748|RGD:15120278|RGD:15161933|RGD:26914977|RGD:26920767|RGD:26923039|RGD:28905317|RGD:38456933|RGD:40905973|RGD:40905975 (Homo sapiens) & RGD:11641978|RGD:11644981|RGD:11646979|RGD:11651316|RGD:11656469|RGD:126768129|RGD:126772908|RGD:13488327|RGD:13522423|RGD:13785660|RGD:15097748|RGD:15120278|RGD:15161933|RGD:26914977|RGD:26920767|RGD:26923039|RGD:28905317|RGD:38456933|RGD:40905973|RGD:40905975 (Homo sapiens)
  • 1 RGD objects have been annotated to Joubert Syndrome 2  (DOID:0110988)
  • 6 papers in RGD have been used to annotate TMEM216
  • Curation Notes: ClinVar Annotator: match by term: Joubert syndrome 2
  • Original References(s): PMID:28492532


    • An association has been curated linking TMEM216 and Joubert Syndrome 2 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:13831658 (Homo sapiens)
  • 1 RGD objects have been annotated to Joubert Syndrome 2  (DOID:0110988)
  • 6 papers in RGD have been used to annotate TMEM216
  • Curation Notes: ClinVar Annotator: match by term: Joubert syndrome 2
  • Original References(s): PMID:20512146 PMID:25741868 PMID:28492532


    • An association has been curated linking TMEM216 and Joubert Syndrome 2 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:8617116 (Homo sapiens)
  • 1 RGD objects have been annotated to Joubert Syndrome 2  (DOID:0110988)
  • 6 papers in RGD have been used to annotate TMEM216
  • Curation Notes: ClinVar Annotator: match by term: Cerebellooculorenal syndrome 2
  • Original References(s): PMID:20512146 PMID:23351400 PMID:25741868 PMID:26092869 PMID:28492532 PMID:28497568


    • An association has been curated linking TMEM216 and Joubert Syndrome 2 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:12739326|RGD:13789319 (Homo sapiens) & RGD:12739326|RGD:13789319 (Homo sapiens)
  • 1 RGD objects have been annotated to Joubert Syndrome 2  (DOID:0110988)
  • 6 papers in RGD have been used to annotate TMEM216
  • Curation Notes: ClinVar Annotator: match by term: Joubert syndrome 2
  • Original References(s): PMID:16199547 PMID:20512146 PMID:28492532


    • An association has been curated linking TMEM216 and Joubert Syndrome 2 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:12739557|RGD:12849794|RGD:151832424|RGD:38482444 (Homo sapiens) & RGD:12739557|RGD:12849794|RGD:151832424|RGD:38482444 (Homo sapiens) & RGD:12739557|RGD:12849794|RGD:151832424|RGD:38482444 (Homo sapiens) & RGD:12739557|RGD:12849794|RGD:151832424|RGD:38482444 (Homo sapiens)
  • 1 RGD objects have been annotated to Joubert Syndrome 2  (DOID:0110988)
  • 6 papers in RGD have been used to annotate TMEM216
  • Curation Notes: ClinVar Annotator: match by term: Joubert syndrome 2
  • Original References(s): PMID:16199547 PMID:20512146 PMID:25741868 PMID:28492532


    • An association has been curated linking TMEM216 and Joubert Syndrome 2 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:10448788|RGD:8594889 (Homo sapiens) & RGD:10448788|RGD:8594889 (Homo sapiens)
  • 1 RGD objects have been annotated to Joubert Syndrome 2  (DOID:0110988)
  • 6 papers in RGD have been used to annotate TMEM216
  • Curation Notes: ClinVar Annotator: match by term: Joubert syndrome 2
  • Original References(s): PMID:20036350 PMID:20512146 PMID:25741868 PMID:26092869 PMID:26673778 PMID:28492532


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