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GENE - TERM ANNOTATION REPORT

9 Annotations Found.

An association has been curated linking Mks1 and Meckel syndrome 1 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 MKS1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 16 RGD objects have been annotated to Meckel syndrome 1  (DOID:0070115)
  • 11 papers in RGD have been used to annotate Mks1


    • An association has been curated linking Mks1 and Meckel syndrome 1 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Szymanska K, etal., Cilia. 2012 Oct 1;1(1):18. doi: 10.1186/2046-2530-1-18.
  • The annotation has been inferred from sequence orthology with MKS1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Szymanska K, etal., Cilia. 2012 Oct 1;1(1):18. doi: 10.1186/2046-2530-1-18.
  • 16 RGD objects have been annotated to Meckel syndrome 1  (DOID:0070115)
  • 11 papers in RGD have been used to annotate Mks1
  • Curation Notes: DNA:splice-site mutations:intron:c.870-2A>G, c.1546+1G¿¿¿>A (human)


    • An association has been curated linking Mks1 and Meckel syndrome 1 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Cui C, etal., Dis Model Mech. 2011 Jan;4(1):43-56. doi: 10.1242/dmm.006262. Epub 2010 Nov 2.
  • The annotation has been inferred from sequence orthology with Mks1 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Cui C, etal., Dis Model Mech. 2011 Jan;4(1):43-56. doi: 10.1242/dmm.006262. Epub 2010 Nov 2.
  • 16 RGD objects have been annotated to Meckel syndrome 1  (DOID:0070115)
  • 11 papers in RGD have been used to annotate Mks1
  • Curation Notes: DNA:deletion


    • An association has been curated linking Mks1 and Meckel syndrome 1 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Khaddour R, etal., Hum Mutat. 2007 May;28(5):523-4.
  • The annotation has been inferred from sequence orthology with MKS1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 7 additional annotations were made from Khaddour R, etal., Hum Mutat. 2007 May;28(5):523-4.
  • 16 RGD objects have been annotated to Meckel syndrome 1  (DOID:0070115)
  • 11 papers in RGD have been used to annotate Mks1
  • Curation Notes: DNA:missense mutations, splice-site mutations:exon:c.417G>A, c.958G>A (p.V320I), c.1490G>A (p.R497K) (human)


    • An association has been curated linking Mks1 and Meckel syndrome 1 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Weatherbee SD, etal., Hum Mol Genet. 2009 Dec 1;18(23):4565-75. doi: 10.1093/hmg/ddp422. Epub 2009 Sep 22.
  • The annotation has been inferred from sequence orthology with Mks1 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Weatherbee SD, etal., Hum Mol Genet. 2009 Dec 1;18(23):4565-75. doi: 10.1093/hmg/ddp422. Epub 2009 Sep 22.
  • 16 RGD objects have been annotated to Meckel syndrome 1  (DOID:0070115)
  • 11 papers in RGD have been used to annotate Mks1
  • Curation Notes: DNA:splice-site mutation:intron:c.515 + 6T>C (mouse)


    • An association has been curated linking Mks1 and Meckel syndrome 1 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Auber B, etal., Clin Genet. 2007 Nov;72(5):454-9.
  • The annotation has been inferred from sequence orthology with MKS1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Auber B, etal., Clin Genet. 2007 Nov;72(5):454-9.
  • 16 RGD objects have been annotated to Meckel syndrome 1  (DOID:0070115)
  • 11 papers in RGD have been used to annotate Mks1
  • Curation Notes: DNA:deletion:intron:IVS15-7_35del (human)


    • An association has been curated linking Mks1 and Meckel syndrome 1 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 MKS1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 16 RGD objects have been annotated to Meckel syndrome 1  (DOID:0070115)
  • 11 papers in RGD have been used to annotate Mks1
  • Curation Notes: ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1
  • Original References(s): PMID:16199547 PMID:16415886 PMID:17185389 PMID:17377820 PMID:17397051 PMID:17437276 PMID:17576681 PMID:17935508 PMID:18327255 PMID:19430481 PMID:19466712 PMID:20301500 PMID:21068128 PMID:21258341 PMID:23351400 PMID:23736532 PMID:24033266 PMID:24608809 PMID:24886560 PMID:25741868 PMID:26092869 PMID:26490104 PMID:27377014 PMID:27570071 PMID:28224992 PMID:28492532 PMID:28497568 PMID:29620724 PMID:30076350 PMID:30718709 PMID:31191208 PMID:33584783 PMID:34008892 PMID:9536098


    • An association has been curated linking Mks1 and Meckel syndrome 1 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with MKS1 (Homo sapiens) [(EXP) inferred from experiment]
  • 16 RGD objects have been annotated to Meckel syndrome 1  (DOID:0070115)
  • 11 papers in RGD have been used to annotate Mks1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Mks1 and Meckel syndrome 1 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 MKS1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 16 RGD objects have been annotated to Meckel syndrome 1  (DOID:0070115)
  • 11 papers in RGD have been used to annotate Mks1
  • Curation Notes: ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1 | ClinVar Annotator: match by term: Meckel syndrome, type 1
  • Original References(s): PMID:16199547 PMID:16415886 PMID:17185389 PMID:17377820 PMID:17397051 PMID:17437276 PMID:17576681 PMID:17935508 PMID:18327255 PMID:19430481 PMID:19466712 PMID:20301500 PMID:21068128 PMID:21228398 PMID:21258341 PMID:23169490 PMID:23351400 PMID:23602711 PMID:23736532 PMID:24033266 PMID:24608809 PMID:24886560 PMID:25363768 PMID:25741868 PMID:26092869 PMID:26490104 PMID:26862157 PMID:27353947 PMID:27377014 PMID:27570071 PMID:28224992 PMID:28492532 PMID:28497568 PMID:28771248 PMID:29620724 PMID:30055837 PMID:30076350 PMID:30679815 PMID:30718709 PMID:30902645 PMID:31191208 PMID:31456290 PMID:31964843 PMID:33584783 PMID:34008892 PMID:34011629 PMID:34359301 PMID:34582790 PMID:35587316 PMID:9536098


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