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GENE - TERM ANNOTATION REPORT

29 Annotations Found.

An association has been curated linking Pcnt and microcephalic osteodysplastic primordial dwarfism type II in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with PCNT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to microcephalic osteodysplastic primordial dwarfism type II  (DOID:0060609)
  • 10 papers in CRRD have been used to annotate Pcnt
  • Curation Notes: ClinVar Annotator: match by OMIM:210720
  • Original References(s): PMID:19839044


  • An association has been curated linking Pcnt and microcephalic osteodysplastic primordial dwarfism type II in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with PCNT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to microcephalic osteodysplastic primordial dwarfism type II  (DOID:0060609)
  • 10 papers in CRRD have been used to annotate Pcnt
  • Curation Notes: ClinVar Annotator: match by OMIM:210720
  • Original References(s): PMID:18157127


  • An association has been curated linking Pcnt and microcephalic osteodysplastic primordial dwarfism type II in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with PCNT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to microcephalic osteodysplastic primordial dwarfism type II  (DOID:0060609)
  • 10 papers in CRRD have been used to annotate Pcnt
  • Curation Notes: ClinVar Annotator: match by OMIM:210720
  • Original References(s): PMID:18414213


  • An association has been curated linking Pcnt and microcephalic osteodysplastic primordial dwarfism type II in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with PCNT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to microcephalic osteodysplastic primordial dwarfism type II  (DOID:0060609)
  • 10 papers in CRRD have been used to annotate Pcnt


  • An association has been curated linking Pcnt and microcephalic osteodysplastic primordial dwarfism type II in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with PCNT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to microcephalic osteodysplastic primordial dwarfism type II  (DOID:0060609)
  • 10 papers in CRRD have been used to annotate Pcnt
  • Curation Notes: ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type 2
  • Original References(s): PMID:25741868


  • An association has been curated linking Pcnt and microcephalic osteodysplastic primordial dwarfism type II in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with PCNT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to microcephalic osteodysplastic primordial dwarfism type II  (DOID:0060609)
  • 10 papers in CRRD have been used to annotate Pcnt
  • Curation Notes: ClinVar Annotator: match by OMIM:210720
  • Original References(s): PMID:19643772


  • An association has been curated linking Pcnt and microcephalic osteodysplastic primordial dwarfism type II in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with PCNT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to microcephalic osteodysplastic primordial dwarfism type II  (DOID:0060609)
  • 10 papers in CRRD have been used to annotate Pcnt
  • Curation Notes: ClinVar Annotator: match by OMIM:210720
  • Original References(s): PMID:18174396, PMID:19643772


  • An association has been curated linking Pcnt and microcephalic osteodysplastic primordial dwarfism type II in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Rauch A, etal., Science. 2008 Feb 8;319(5864):816-9. doi: 10.1126/science.1151174. Epub 2008 Jan 3.
  • The annotation has been inferred from sequence orthology with PCNT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Rauch A, etal., Science. 2008 Feb 8;319(5864):816-9. doi: 10.1126/science.1151174. Epub 2008 Jan 3.
  • 1 CRRD objects have been annotated to microcephalic osteodysplastic primordial dwarfism type II  (DOID:0060609)
  • 10 papers in CRRD have been used to annotate Pcnt
  • Curation Notes: DNA:mutations: :multiple


  • An association has been curated linking Pcnt and microcephalic osteodysplastic primordial dwarfism type II in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with PCNT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to microcephalic osteodysplastic primordial dwarfism type II  (DOID:0060609)
  • 10 papers in CRRD have been used to annotate Pcnt
  • Curation Notes: ClinVar Annotator: match by OMIM:210720
  • Original References(s): PMID:18174396


  • An association has been curated linking Pcnt and microcephalic osteodysplastic primordial dwarfism type II in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Griffith E, etal., Nat Genet. 2008 Feb;40(2):232-6. Epub 2007 Dec 23.
  • The annotation has been inferred from sequence orthology with PCNT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Griffith E, etal., Nat Genet. 2008 Feb;40(2):232-6. Epub 2007 Dec 23.
  • 1 CRRD objects have been annotated to microcephalic osteodysplastic primordial dwarfism type II  (DOID:0060609)
  • 10 papers in CRRD have been used to annotate Pcnt
  • Curation Notes: DNA:frameshift mutations, nonsense mutation:exon:p.E220X (658G>T), 1887del, 3568_3569insT (human)


  • An association has been curated linking Pcnt and microcephalic osteodysplastic primordial dwarfism type II in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Kantaputra P, etal., Am J Med Genet A. 2011 Jun;155A(6):1398-403. doi: 10.1002/ajmg.a.33984. Epub 2011 May 12.
  • The annotation has been inferred from sequence orthology with PCNT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Kantaputra P, etal., Am J Med Genet A. 2011 Jun;155A(6):1398-403. doi: 10.1002/ajmg.a.33984. Epub 2011 May 12.
  • 1 CRRD objects have been annotated to microcephalic osteodysplastic primordial dwarfism type II  (DOID:0060609)
  • 10 papers in CRRD have been used to annotate Pcnt
  • Curation Notes: DNA:deletion, nonsense mutations:exon:p.K3154del (c.9460_9462del), p.E1154X (c.3460G>T), p.P1923X (c.5765C>T) (human)


  • An association has been curated linking Pcnt and microcephalic osteodysplastic primordial dwarfism type II in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Willems M, etal., J Med Genet. 2010 Dec;47(12):797-802. doi: 10.1136/jmg.2009.067298. Epub 2009 Jul 29.
  • The annotation has been inferred from sequence orthology with PCNT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Willems M, etal., J Med Genet. 2010 Dec;47(12):797-802. doi: 10.1136/jmg.2009.067298. Epub 2009 Jul 29.
  • 1 CRRD objects have been annotated to microcephalic osteodysplastic primordial dwarfism type II  (DOID:0060609)
  • 10 papers in CRRD have been used to annotate Pcnt
  • Curation Notes: DNA:frameshift mutations, nonsense mutations, splice-site mutations:exon, intron:multiple


  • An association has been curated linking Pcnt and microcephalic osteodysplastic primordial dwarfism type II in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with PCNT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to microcephalic osteodysplastic primordial dwarfism type II  (DOID:0060609)
  • 10 papers in CRRD have been used to annotate Pcnt
  • Curation Notes: ClinVar Annotator: match by OMIM:210720
  • Original References(s): PMID:12210304, PMID:15372530, PMID:18174396, PMID:18414213


  • An association has been curated linking Pcnt and microcephalic osteodysplastic primordial dwarfism type II in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with PCNT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to microcephalic osteodysplastic primordial dwarfism type II  (DOID:0060609)
  • 10 papers in CRRD have been used to annotate Pcnt
  • Curation Notes: ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type 2
  • Original References(s): PMID:19643772, PMID:25741868


  • An association has been curated linking Pcnt and microcephalic osteodysplastic primordial dwarfism type II in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with PCNT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to microcephalic osteodysplastic primordial dwarfism type II  (DOID:0060609)
  • 10 papers in CRRD have been used to annotate Pcnt
  • Curation Notes: ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type 2
  • Original References(s): PMID:18414213, PMID:25741868


  • An association has been curated linking Pcnt and microcephalic osteodysplastic primordial dwarfism type II in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with PCNT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to microcephalic osteodysplastic primordial dwarfism type II  (DOID:0060609)
  • 10 papers in CRRD have been used to annotate Pcnt
  • Curation Notes: ClinVar Annotator: match by OMIM:210720


  • An association has been curated linking Pcnt and microcephalic osteodysplastic primordial dwarfism type II in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with PCNT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to microcephalic osteodysplastic primordial dwarfism type II  (DOID:0060609)
  • 10 papers in CRRD have been used to annotate Pcnt
  • Curation Notes: ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type 2
  • Original References(s): PMID:24033266


  • An association has been curated linking Pcnt and microcephalic osteodysplastic primordial dwarfism type II in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with PCNT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to microcephalic osteodysplastic primordial dwarfism type II  (DOID:0060609)
  • 10 papers in CRRD have been used to annotate Pcnt
  • Curation Notes: ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type 2
  • Original References(s): PMID:15372530, PMID:21567919


  • An association has been curated linking Pcnt and microcephalic osteodysplastic primordial dwarfism type II in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with PCNT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to microcephalic osteodysplastic primordial dwarfism type II  (DOID:0060609)
  • 10 papers in CRRD have been used to annotate Pcnt
  • Curation Notes: ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type 2
  • Original References(s): PMID:15372530


  • An association has been curated linking Pcnt and microcephalic osteodysplastic primordial dwarfism type II in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with PCNT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to microcephalic osteodysplastic primordial dwarfism type II  (DOID:0060609)
  • 10 papers in CRRD have been used to annotate Pcnt
  • Curation Notes: ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type 2
  • Original References(s): PMID:25326635, PMID:25741868


  • An association has been curated linking Pcnt and microcephalic osteodysplastic primordial dwarfism type II in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with PCNT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to microcephalic osteodysplastic primordial dwarfism type II  (DOID:0060609)
  • 10 papers in CRRD have been used to annotate Pcnt
  • Curation Notes: ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type 2
  • Original References(s): PMID:28492532


  • An association has been curated linking Pcnt and microcephalic osteodysplastic primordial dwarfism type II in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with PCNT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to microcephalic osteodysplastic primordial dwarfism type II  (DOID:0060609)
  • 10 papers in CRRD have been used to annotate Pcnt
  • Curation Notes: ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type 2
  • Original References(s): PMID:18414213, PMID:25741868, PMID:28492532


  • An association has been curated linking Pcnt and microcephalic osteodysplastic primordial dwarfism type II in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with PCNT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to microcephalic osteodysplastic primordial dwarfism type II  (DOID:0060609)
  • 10 papers in CRRD have been used to annotate Pcnt
  • Curation Notes: ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type 2
  • Original References(s): PMID:18414213, PMID:28492532


  • An association has been curated linking Pcnt and microcephalic osteodysplastic primordial dwarfism type II in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with PCNT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to microcephalic osteodysplastic primordial dwarfism type II  (DOID:0060609)
  • 10 papers in CRRD have been used to annotate Pcnt
  • Curation Notes: ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type 2
  • Original References(s): PMID:25741868, PMID:28492532


  • An association has been curated linking Pcnt and microcephalic osteodysplastic primordial dwarfism type II in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with PCNT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to microcephalic osteodysplastic primordial dwarfism type II  (DOID:0060609)
  • 10 papers in CRRD have been used to annotate Pcnt
  • Curation Notes: ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type II
  • Original References(s): PMID:27900370


  • An association has been curated linking Pcnt and microcephalic osteodysplastic primordial dwarfism type II in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with PCNT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to microcephalic osteodysplastic primordial dwarfism type II  (DOID:0060609)
  • 10 papers in CRRD have been used to annotate Pcnt
  • Curation Notes: ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type II
  • Original References(s): PMID:18414213, PMID:19448849, PMID:19937158, PMID:21195721


  • An association has been curated linking Pcnt and microcephalic osteodysplastic primordial dwarfism type II in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with PCNT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to microcephalic osteodysplastic primordial dwarfism type II  (DOID:0060609)
  • 10 papers in CRRD have been used to annotate Pcnt
  • Curation Notes: ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type II
  • Original References(s): PMID:25741868, PMID:27323140


  • An association has been curated linking Pcnt and microcephalic osteodysplastic primordial dwarfism type II in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with PCNT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to microcephalic osteodysplastic primordial dwarfism type II  (DOID:0060609)
  • 10 papers in CRRD have been used to annotate Pcnt
  • Curation Notes: ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type II
  • Original References(s): PMID:32818659


  • An association has been curated linking Pcnt and microcephalic osteodysplastic primordial dwarfism type II in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with PCNT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to microcephalic osteodysplastic primordial dwarfism type II  (DOID:0060609)
  • 10 papers in CRRD have been used to annotate Pcnt
  • Curation Notes: ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type II
  • Original References(s): PMID:23033978, PMID:25741868, PMID:28492532


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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.