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GENE - TERM ANNOTATION REPORT

13 Annotations Found.

An association has been curated linking TBCE and hypoparathyroidism-retardation-dysmorphism syndrome 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:8558597 (Homo sapiens)
  • 3 RGD objects have been annotated to hypoparathyroidism-retardation-dysmorphism syndrome  (DOID:0060348)
  • 6 papers in RGD have been used to annotate TBCE
  • Curation Notes: ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome
  • Original References(s): PMID:12389028


    • An association has been curated linking TBCE and hypoparathyroidism-retardation-dysmorphism syndrome 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
  • 3 RGD objects have been annotated to hypoparathyroidism-retardation-dysmorphism syndrome  (DOID:0060348)
  • 6 papers in RGD have been used to annotate TBCE
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:12389028


    • An association has been curated linking TBCE and hypoparathyroidism-retardation-dysmorphism syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 3 RGD objects have been annotated to hypoparathyroidism-retardation-dysmorphism syndrome  (DOID:0060348)
  • 6 papers in RGD have been used to annotate TBCE


    • An association has been curated linking TBCE and hypoparathyroidism-retardation-dysmorphism syndrome 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:8558596 (Homo sapiens)
  • 3 RGD objects have been annotated to hypoparathyroidism-retardation-dysmorphism syndrome  (DOID:0060348)
  • 6 papers in RGD have been used to annotate TBCE
  • Curation Notes: ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome
  • Original References(s): PMID:12389028 PMID:12389029 PMID:16938882 PMID:28492532


    • An association has been curated linking TBCE and hypoparathyroidism-retardation-dysmorphism syndrome 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:151833532 (Homo sapiens)
  • 3 RGD objects have been annotated to hypoparathyroidism-retardation-dysmorphism syndrome  (DOID:0060348)
  • 6 papers in RGD have been used to annotate TBCE
  • Curation Notes: ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome
  • Original References(s): PMID:17576681 PMID:25741868 PMID:28492532 PMID:9536098


    • An association has been curated linking TBCE and hypoparathyroidism-retardation-dysmorphism syndrome 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:14692960 (Homo sapiens)
  • 3 RGD objects have been annotated to hypoparathyroidism-retardation-dysmorphism syndrome  (DOID:0060348)
  • 6 papers in RGD have been used to annotate TBCE
  • Curation Notes: ClinVar Annotator: match by term: Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay
  • Original References(s): PMID:16199547 PMID:25741868 PMID:27666369 PMID:28492532 PMID:33652732 PMID:34134906 PMID:34356170 PMID:35432193


    • An association has been curated linking TBCE and hypoparathyroidism-retardation-dysmorphism syndrome 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:8558595 (Homo sapiens)
  • 3 RGD objects have been annotated to hypoparathyroidism-retardation-dysmorphism syndrome  (DOID:0060348)
  • 6 papers in RGD have been used to annotate TBCE
  • Curation Notes: ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome
  • Original References(s): PMID:12389028 PMID:20152369 PMID:25097779 PMID:25741868 PMID:26231322 PMID:26336027 PMID:28492532 PMID:30080992 PMID:30638765


    • An association has been curated linking TBCE and hypoparathyroidism-retardation-dysmorphism syndrome 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:12907451 (Homo sapiens)
  • 3 RGD objects have been annotated to hypoparathyroidism-retardation-dysmorphism syndrome  (DOID:0060348)
  • 6 papers in RGD have been used to annotate TBCE
  • Curation Notes: ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome
  • Original References(s): PMID:12389028 PMID:25741868 PMID:27666369 PMID:28492532 PMID:34134906 PMID:34356170


    • An association has been curated linking TBCE and hypoparathyroidism-retardation-dysmorphism syndrome 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:11633195|RGD:11633595|RGD:11633631|RGD:11633843|RGD:11633967|RGD:11647922|RGD:11651036|RGD:11655392|RGD:11656172|RGD:11662845|RGD:28884003|RGD:28889771|RGD:28889773|RGD:28889779|RGD:28894758|RGD:28894762 (Homo sapiens) & RGD:11633195|RGD:11633595|RGD:11633631|RGD:11633843|RGD:11633967|RGD:11647922|RGD:11651036|RGD:11655392|RGD:11656172|RGD:11662845|RGD:28884003|RGD:28889771|RGD:28889773|RGD:28889779|RGD:28894758|RGD:28894762 (Homo sapiens) & RGD:11633195|RGD:11633595|RGD:11633631|RGD:11633843|RGD:11633967|RGD:11647922|RGD:11651036|RGD:11655392|RGD:11656172|RGD:11662845|RGD:28884003|RGD:28889771|RGD:28889773|RGD:28889779|RGD:28894758|RGD:28894762 (Homo sapiens) & RGD:11633195|RGD:11633595|RGD:11633631|RGD:11633843|RGD:11633967|RGD:11647922|RGD:11651036|RGD:11655392|RGD:11656172|RGD:11662845|RGD:28884003|RGD:28889771|RGD:28889773|RGD:28889779|RGD:28894758|RGD:28894762 (Homo sapiens) & RGD:11633195|RGD:11633595|RGD:11633631|RGD:11633843|RGD:11633967|RGD:11647922|RGD:11651036|RGD:11655392|RGD:11656172|RGD:11662845|RGD:28884003|RGD:28889771|RGD:28889773|RGD:28889779|RGD:28894758|RGD:28894762 (Homo sapiens) & RGD:11633195|RGD:11633595|RGD:11633631|RGD:11633843|RGD:11633967|RGD:11647922|RGD:11651036|RGD:11655392|RGD:11656172|RGD:11662845|RGD:28884003|RGD:28889771|RGD:28889773|RGD:28889779|RGD:28894758|RGD:28894762 (Homo sapiens) & RGD:11633195|RGD:11633595|RGD:11633631|RGD:11633843|RGD:11633967|RGD:11647922|RGD:11651036|RGD:11655392|RGD:11656172|RGD:11662845|RGD:28884003|RGD:28889771|RGD:28889773|RGD:28889779|RGD:28894758|RGD:28894762 (Homo sapiens) & RGD:11633195|RGD:11633595|RGD:11633631|RGD:11633843|RGD:11633967|RGD:11647922|RGD:11651036|RGD:11655392|RGD:11656172|RGD:11662845|RGD:28884003|RGD:28889771|RGD:28889773|RGD:28889779|RGD:28894758|RGD:28894762 (Homo sapiens) & RGD:11633195|RGD:11633595|RGD:11633631|RGD:11633843|RGD:11633967|RGD:11647922|RGD:11651036|RGD:11655392|RGD:11656172|RGD:11662845|RGD:28884003|RGD:28889771|RGD:28889773|RGD:28889779|RGD:28894758|RGD:28894762 (Homo sapiens) & RGD:11633195|RGD:11633595|RGD:11633631|RGD:11633843|RGD:11633967|RGD:11647922|RGD:11651036|RGD:11655392|RGD:11656172|RGD:11662845|RGD:28884003|RGD:28889771|RGD:28889773|RGD:28889779|RGD:28894758|RGD:28894762 (Homo sapiens) & RGD:11633195|RGD:11633595|RGD:11633631|RGD:11633843|RGD:11633967|RGD:11647922|RGD:11651036|RGD:11655392|RGD:11656172|RGD:11662845|RGD:28884003|RGD:28889771|RGD:28889773|RGD:28889779|RGD:28894758|RGD:28894762 (Homo sapiens) & RGD:11633195|RGD:11633595|RGD:11633631|RGD:11633843|RGD:11633967|RGD:11647922|RGD:11651036|RGD:11655392|RGD:11656172|RGD:11662845|RGD:28884003|RGD:28889771|RGD:28889773|RGD:28889779|RGD:28894758|RGD:28894762 (Homo sapiens) & RGD:11633195|RGD:11633595|RGD:11633631|RGD:11633843|RGD:11633967|RGD:11647922|RGD:11651036|RGD:11655392|RGD:11656172|RGD:11662845|RGD:28884003|RGD:28889771|RGD:28889773|RGD:28889779|RGD:28894758|RGD:28894762 (Homo sapiens) & RGD:11633195|RGD:11633595|RGD:11633631|RGD:11633843|RGD:11633967|RGD:11647922|RGD:11651036|RGD:11655392|RGD:11656172|RGD:11662845|RGD:28884003|RGD:28889771|RGD:28889773|RGD:28889779|RGD:28894758|RGD:28894762 (Homo sapiens) & RGD:11633195|RGD:11633595|RGD:11633631|RGD:11633843|RGD:11633967|RGD:11647922|RGD:11651036|RGD:11655392|RGD:11656172|RGD:11662845|RGD:28884003|RGD:28889771|RGD:28889773|RGD:28889779|RGD:28894758|RGD:28894762 (Homo sapiens) & RGD:11633195|RGD:11633595|RGD:11633631|RGD:11633843|RGD:11633967|RGD:11647922|RGD:11651036|RGD:11655392|RGD:11656172|RGD:11662845|RGD:28884003|RGD:28889771|RGD:28889773|RGD:28889779|RGD:28894758|RGD:28894762 (Homo sapiens)
  • 3 RGD objects have been annotated to hypoparathyroidism-retardation-dysmorphism syndrome  (DOID:0060348)
  • 6 papers in RGD have been used to annotate TBCE
  • Curation Notes: ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome


    • An association has been curated linking TBCE and hypoparathyroidism-retardation-dysmorphism syndrome 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:10049702|RGD:11632596|RGD:11632975|RGD:11632979|RGD:11633365|RGD:11633553|RGD:11633598|RGD:11633825|RGD:11633852|RGD:11634005|RGD:11634026|RGD:11652575|RGD:13517835|RGD:13833207|RGD:13833216|RGD:15113552|RGD:15143913|RGD:15157085|RGD:15180144|RGD:28878636|RGD:28884285|RGD:28889768 (Homo sapiens) & RGD:10049702|RGD:11632596|RGD:11632975|RGD:11632979|RGD:11633365|RGD:11633553|RGD:11633598|RGD:11633825|RGD:11633852|RGD:11634005|RGD:11634026|RGD:11652575|RGD:13517835|RGD:13833207|RGD:13833216|RGD:15113552|RGD:15143913|RGD:15157085|RGD:15180144|RGD:28878636|RGD:28884285|RGD:28889768 (Homo sapiens) & RGD:10049702|RGD:11632596|RGD:11632975|RGD:11632979|RGD:11633365|RGD:11633553|RGD:11633598|RGD:11633825|RGD:11633852|RGD:11634005|RGD:11634026|RGD:11652575|RGD:13517835|RGD:13833207|RGD:13833216|RGD:15113552|RGD:15143913|RGD:15157085|RGD:15180144|RGD:28878636|RGD:28884285|RGD:28889768 (Homo sapiens) & RGD:10049702|RGD:11632596|RGD:11632975|RGD:11632979|RGD:11633365|RGD:11633553|RGD:11633598|RGD:11633825|RGD:11633852|RGD:11634005|RGD:11634026|RGD:11652575|RGD:13517835|RGD:13833207|RGD:13833216|RGD:15113552|RGD:15143913|RGD:15157085|RGD:15180144|RGD:28878636|RGD:28884285|RGD:28889768 (Homo sapiens) & RGD:10049702|RGD:11632596|RGD:11632975|RGD:11632979|RGD:11633365|RGD:11633553|RGD:11633598|RGD:11633825|RGD:11633852|RGD:11634005|RGD:11634026|RGD:11652575|RGD:13517835|RGD:13833207|RGD:13833216|RGD:15113552|RGD:15143913|RGD:15157085|RGD:15180144|RGD:28878636|RGD:28884285|RGD:28889768 (Homo sapiens) & RGD:10049702|RGD:11632596|RGD:11632975|RGD:11632979|RGD:11633365|RGD:11633553|RGD:11633598|RGD:11633825|RGD:11633852|RGD:11634005|RGD:11634026|RGD:11652575|RGD:13517835|RGD:13833207|RGD:13833216|RGD:15113552|RGD:15143913|RGD:15157085|RGD:15180144|RGD:28878636|RGD:28884285|RGD:28889768 (Homo sapiens) & RGD:10049702|RGD:11632596|RGD:11632975|RGD:11632979|RGD:11633365|RGD:11633553|RGD:11633598|RGD:11633825|RGD:11633852|RGD:11634005|RGD:11634026|RGD:11652575|RGD:13517835|RGD:13833207|RGD:13833216|RGD:15113552|RGD:15143913|RGD:15157085|RGD:15180144|RGD:28878636|RGD:28884285|RGD:28889768 (Homo sapiens) & RGD:10049702|RGD:11632596|RGD:11632975|RGD:11632979|RGD:11633365|RGD:11633553|RGD:11633598|RGD:11633825|RGD:11633852|RGD:11634005|RGD:11634026|RGD:11652575|RGD:13517835|RGD:13833207|RGD:13833216|RGD:15113552|RGD:15143913|RGD:15157085|RGD:15180144|RGD:28878636|RGD:28884285|RGD:28889768 (Homo sapiens) & RGD:10049702|RGD:11632596|RGD:11632975|RGD:11632979|RGD:11633365|RGD:11633553|RGD:11633598|RGD:11633825|RGD:11633852|RGD:11634005|RGD:11634026|RGD:11652575|RGD:13517835|RGD:13833207|RGD:13833216|RGD:15113552|RGD:15143913|RGD:15157085|RGD:15180144|RGD:28878636|RGD:28884285|RGD:28889768 (Homo sapiens) & RGD:10049702|RGD:11632596|RGD:11632975|RGD:11632979|RGD:11633365|RGD:11633553|RGD:11633598|RGD:11633825|RGD:11633852|RGD:11634005|RGD:11634026|RGD:11652575|RGD:13517835|RGD:13833207|RGD:13833216|RGD:15113552|RGD:15143913|RGD:15157085|RGD:15180144|RGD:28878636|RGD:28884285|RGD:28889768 (Homo sapiens) & RGD:10049702|RGD:11632596|RGD:11632975|RGD:11632979|RGD:11633365|RGD:11633553|RGD:11633598|RGD:11633825|RGD:11633852|RGD:11634005|RGD:11634026|RGD:11652575|RGD:13517835|RGD:13833207|RGD:13833216|RGD:15113552|RGD:15143913|RGD:15157085|RGD:15180144|RGD:28878636|RGD:28884285|RGD:28889768 (Homo sapiens) & RGD:10049702|RGD:11632596|RGD:11632975|RGD:11632979|RGD:11633365|RGD:11633553|RGD:11633598|RGD:11633825|RGD:11633852|RGD:11634005|RGD:11634026|RGD:11652575|RGD:13517835|RGD:13833207|RGD:13833216|RGD:15113552|RGD:15143913|RGD:15157085|RGD:15180144|RGD:28878636|RGD:28884285|RGD:28889768 (Homo sapiens) & RGD:10049702|RGD:11632596|RGD:11632975|RGD:11632979|RGD:11633365|RGD:11633553|RGD:11633598|RGD:11633825|RGD:11633852|RGD:11634005|RGD:11634026|RGD:11652575|RGD:13517835|RGD:13833207|RGD:13833216|RGD:15113552|RGD:15143913|RGD:15157085|RGD:15180144|RGD:28878636|RGD:28884285|RGD:28889768 (Homo sapiens) & RGD:10049702|RGD:11632596|RGD:11632975|RGD:11632979|RGD:11633365|RGD:11633553|RGD:11633598|RGD:11633825|RGD:11633852|RGD:11634005|RGD:11634026|RGD:11652575|RGD:13517835|RGD:13833207|RGD:13833216|RGD:15113552|RGD:15143913|RGD:15157085|RGD:15180144|RGD:28878636|RGD:28884285|RGD:28889768 (Homo sapiens) & RGD:10049702|RGD:11632596|RGD:11632975|RGD:11632979|RGD:11633365|RGD:11633553|RGD:11633598|RGD:11633825|RGD:11633852|RGD:11634005|RGD:11634026|RGD:11652575|RGD:13517835|RGD:13833207|RGD:13833216|RGD:15113552|RGD:15143913|RGD:15157085|RGD:15180144|RGD:28878636|RGD:28884285|RGD:28889768 (Homo sapiens) & RGD:10049702|RGD:11632596|RGD:11632975|RGD:11632979|RGD:11633365|RGD:11633553|RGD:11633598|RGD:11633825|RGD:11633852|RGD:11634005|RGD:11634026|RGD:11652575|RGD:13517835|RGD:13833207|RGD:13833216|RGD:15113552|RGD:15143913|RGD:15157085|RGD:15180144|RGD:28878636|RGD:28884285|RGD:28889768 (Homo sapiens) & RGD:10049702|RGD:11632596|RGD:11632975|RGD:11632979|RGD:11633365|RGD:11633553|RGD:11633598|RGD:11633825|RGD:11633852|RGD:11634005|RGD:11634026|RGD:11652575|RGD:13517835|RGD:13833207|RGD:13833216|RGD:15113552|RGD:15143913|RGD:15157085|RGD:15180144|RGD:28878636|RGD:28884285|RGD:28889768 (Homo sapiens) & RGD:10049702|RGD:11632596|RGD:11632975|RGD:11632979|RGD:11633365|RGD:11633553|RGD:11633598|RGD:11633825|RGD:11633852|RGD:11634005|RGD:11634026|RGD:11652575|RGD:13517835|RGD:13833207|RGD:13833216|RGD:15113552|RGD:15143913|RGD:15157085|RGD:15180144|RGD:28878636|RGD:28884285|RGD:28889768 (Homo sapiens) & RGD:10049702|RGD:11632596|RGD:11632975|RGD:11632979|RGD:11633365|RGD:11633553|RGD:11633598|RGD:11633825|RGD:11633852|RGD:11634005|RGD:11634026|RGD:11652575|RGD:13517835|RGD:13833207|RGD:13833216|RGD:15113552|RGD:15143913|RGD:15157085|RGD:15180144|RGD:28878636|RGD:28884285|RGD:28889768 (Homo sapiens) & RGD:10049702|RGD:11632596|RGD:11632975|RGD:11632979|RGD:11633365|RGD:11633553|RGD:11633598|RGD:11633825|RGD:11633852|RGD:11634005|RGD:11634026|RGD:11652575|RGD:13517835|RGD:13833207|RGD:13833216|RGD:15113552|RGD:15143913|RGD:15157085|RGD:15180144|RGD:28878636|RGD:28884285|RGD:28889768 (Homo sapiens) & RGD:10049702|RGD:11632596|RGD:11632975|RGD:11632979|RGD:11633365|RGD:11633553|RGD:11633598|RGD:11633825|RGD:11633852|RGD:11634005|RGD:11634026|RGD:11652575|RGD:13517835|RGD:13833207|RGD:13833216|RGD:15113552|RGD:15143913|RGD:15157085|RGD:15180144|RGD:28878636|RGD:28884285|RGD:28889768 (Homo sapiens) & RGD:10049702|RGD:11632596|RGD:11632975|RGD:11632979|RGD:11633365|RGD:11633553|RGD:11633598|RGD:11633825|RGD:11633852|RGD:11634005|RGD:11634026|RGD:11652575|RGD:13517835|RGD:13833207|RGD:13833216|RGD:15113552|RGD:15143913|RGD:15157085|RGD:15180144|RGD:28878636|RGD:28884285|RGD:28889768 (Homo sapiens)
  • 3 RGD objects have been annotated to hypoparathyroidism-retardation-dysmorphism syndrome  (DOID:0060348)
  • 6 papers in RGD have been used to annotate TBCE
  • Curation Notes: ClinVar Annotator: match by term: Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay | ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome
  • Original References(s): PMID:28492532


    • An association has been curated linking TBCE and hypoparathyroidism-retardation-dysmorphism syndrome 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:11350595|RGD:11632480|RGD:11632507|RGD:11632535|RGD:11632655|RGD:11633184|RGD:11633457|RGD:11633673|RGD:11633679|RGD:11634047|RGD:11634048|RGD:11636410|RGD:126742599|RGD:151843399|RGD:28878645 (Homo sapiens) & RGD:11350595|RGD:11632480|RGD:11632507|RGD:11632535|RGD:11632655|RGD:11633184|RGD:11633457|RGD:11633673|RGD:11633679|RGD:11634047|RGD:11634048|RGD:11636410|RGD:126742599|RGD:151843399|RGD:28878645 (Homo sapiens) & RGD:11350595|RGD:11632480|RGD:11632507|RGD:11632535|RGD:11632655|RGD:11633184|RGD:11633457|RGD:11633673|RGD:11633679|RGD:11634047|RGD:11634048|RGD:11636410|RGD:126742599|RGD:151843399|RGD:28878645 (Homo sapiens) & RGD:11350595|RGD:11632480|RGD:11632507|RGD:11632535|RGD:11632655|RGD:11633184|RGD:11633457|RGD:11633673|RGD:11633679|RGD:11634047|RGD:11634048|RGD:11636410|RGD:126742599|RGD:151843399|RGD:28878645 (Homo sapiens) & RGD:11350595|RGD:11632480|RGD:11632507|RGD:11632535|RGD:11632655|RGD:11633184|RGD:11633457|RGD:11633673|RGD:11633679|RGD:11634047|RGD:11634048|RGD:11636410|RGD:126742599|RGD:151843399|RGD:28878645 (Homo sapiens) & RGD:11350595|RGD:11632480|RGD:11632507|RGD:11632535|RGD:11632655|RGD:11633184|RGD:11633457|RGD:11633673|RGD:11633679|RGD:11634047|RGD:11634048|RGD:11636410|RGD:126742599|RGD:151843399|RGD:28878645 (Homo sapiens) & RGD:11350595|RGD:11632480|RGD:11632507|RGD:11632535|RGD:11632655|RGD:11633184|RGD:11633457|RGD:11633673|RGD:11633679|RGD:11634047|RGD:11634048|RGD:11636410|RGD:126742599|RGD:151843399|RGD:28878645 (Homo sapiens) & RGD:11350595|RGD:11632480|RGD:11632507|RGD:11632535|RGD:11632655|RGD:11633184|RGD:11633457|RGD:11633673|RGD:11633679|RGD:11634047|RGD:11634048|RGD:11636410|RGD:126742599|RGD:151843399|RGD:28878645 (Homo sapiens) & RGD:11350595|RGD:11632480|RGD:11632507|RGD:11632535|RGD:11632655|RGD:11633184|RGD:11633457|RGD:11633673|RGD:11633679|RGD:11634047|RGD:11634048|RGD:11636410|RGD:126742599|RGD:151843399|RGD:28878645 (Homo sapiens) & RGD:11350595|RGD:11632480|RGD:11632507|RGD:11632535|RGD:11632655|RGD:11633184|RGD:11633457|RGD:11633673|RGD:11633679|RGD:11634047|RGD:11634048|RGD:11636410|RGD:126742599|RGD:151843399|RGD:28878645 (Homo sapiens) & RGD:11350595|RGD:11632480|RGD:11632507|RGD:11632535|RGD:11632655|RGD:11633184|RGD:11633457|RGD:11633673|RGD:11633679|RGD:11634047|RGD:11634048|RGD:11636410|RGD:126742599|RGD:151843399|RGD:28878645 (Homo sapiens) & RGD:11350595|RGD:11632480|RGD:11632507|RGD:11632535|RGD:11632655|RGD:11633184|RGD:11633457|RGD:11633673|RGD:11633679|RGD:11634047|RGD:11634048|RGD:11636410|RGD:126742599|RGD:151843399|RGD:28878645 (Homo sapiens) & RGD:11350595|RGD:11632480|RGD:11632507|RGD:11632535|RGD:11632655|RGD:11633184|RGD:11633457|RGD:11633673|RGD:11633679|RGD:11634047|RGD:11634048|RGD:11636410|RGD:126742599|RGD:151843399|RGD:28878645 (Homo sapiens) & RGD:11350595|RGD:11632480|RGD:11632507|RGD:11632535|RGD:11632655|RGD:11633184|RGD:11633457|RGD:11633673|RGD:11633679|RGD:11634047|RGD:11634048|RGD:11636410|RGD:126742599|RGD:151843399|RGD:28878645 (Homo sapiens) & RGD:11350595|RGD:11632480|RGD:11632507|RGD:11632535|RGD:11632655|RGD:11633184|RGD:11633457|RGD:11633673|RGD:11633679|RGD:11634047|RGD:11634048|RGD:11636410|RGD:126742599|RGD:151843399|RGD:28878645 (Homo sapiens)
  • 3 RGD objects have been annotated to hypoparathyroidism-retardation-dysmorphism syndrome  (DOID:0060348)
  • 6 papers in RGD have been used to annotate TBCE
  • Curation Notes: ClinVar Annotator: match by term: Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay | ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking TBCE and hypoparathyroidism-retardation-dysmorphism syndrome 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:405135135 (Homo sapiens)
  • 3 RGD objects have been annotated to hypoparathyroidism-retardation-dysmorphism syndrome  (DOID:0060348)
  • 6 papers in RGD have been used to annotate TBCE
  • Curation Notes: ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome
  • Original References(s): PMID:25741868 PMID:27666369 PMID:28492532 PMID:34134906 PMID:34356170


    • An association has been curated linking TBCE and hypoparathyroidism-retardation-dysmorphism syndrome 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:11632830|RGD:11634010|RGD:12858954|RGD:150516278|RGD:150528197|RGD:21072152|RGD:597714197|RGD:597714295|RGD:597714328|RGD:597714355|RGD:597758879|RGD:597758889 (Homo sapiens) & RGD:11632830|RGD:11634010|RGD:12858954|RGD:150516278|RGD:150528197|RGD:21072152|RGD:597714197|RGD:597714295|RGD:597714328|RGD:597714355|RGD:597758879|RGD:597758889 (Homo sapiens) & RGD:11632830|RGD:11634010|RGD:12858954|RGD:150516278|RGD:150528197|RGD:21072152|RGD:597714197|RGD:597714295|RGD:597714328|RGD:597714355|RGD:597758879|RGD:597758889 (Homo sapiens) & RGD:11632830|RGD:11634010|RGD:12858954|RGD:150516278|RGD:150528197|RGD:21072152|RGD:597714197|RGD:597714295|RGD:597714328|RGD:597714355|RGD:597758879|RGD:597758889 (Homo sapiens) & RGD:11632830|RGD:11634010|RGD:12858954|RGD:150516278|RGD:150528197|RGD:21072152|RGD:597714197|RGD:597714295|RGD:597714328|RGD:597714355|RGD:597758879|RGD:597758889 (Homo sapiens) & RGD:11632830|RGD:11634010|RGD:12858954|RGD:150516278|RGD:150528197|RGD:21072152|RGD:597714197|RGD:597714295|RGD:597714328|RGD:597714355|RGD:597758879|RGD:597758889 (Homo sapiens) & RGD:11632830|RGD:11634010|RGD:12858954|RGD:150516278|RGD:150528197|RGD:21072152|RGD:597714197|RGD:597714295|RGD:597714328|RGD:597714355|RGD:597758879|RGD:597758889 (Homo sapiens) & RGD:11632830|RGD:11634010|RGD:12858954|RGD:150516278|RGD:150528197|RGD:21072152|RGD:597714197|RGD:597714295|RGD:597714328|RGD:597714355|RGD:597758879|RGD:597758889 (Homo sapiens) & RGD:11632830|RGD:11634010|RGD:12858954|RGD:150516278|RGD:150528197|RGD:21072152|RGD:597714197|RGD:597714295|RGD:597714328|RGD:597714355|RGD:597758879|RGD:597758889 (Homo sapiens) & RGD:11632830|RGD:11634010|RGD:12858954|RGD:150516278|RGD:150528197|RGD:21072152|RGD:597714197|RGD:597714295|RGD:597714328|RGD:597714355|RGD:597758879|RGD:597758889 (Homo sapiens) & RGD:11632830|RGD:11634010|RGD:12858954|RGD:150516278|RGD:150528197|RGD:21072152|RGD:597714197|RGD:597714295|RGD:597714328|RGD:597714355|RGD:597758879|RGD:597758889 (Homo sapiens) & RGD:11632830|RGD:11634010|RGD:12858954|RGD:150516278|RGD:150528197|RGD:21072152|RGD:597714197|RGD:597714295|RGD:597714328|RGD:597714355|RGD:597758879|RGD:597758889 (Homo sapiens)
  • 3 RGD objects have been annotated to hypoparathyroidism-retardation-dysmorphism syndrome  (DOID:0060348)
  • 6 papers in RGD have been used to annotate TBCE
  • Curation Notes: ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome
  • Original References(s): PMID:25741868


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