Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Agenesis of Corpus Callosum | | ISO | RGD:1320527 | 8554872 | ClinVar Annotator: match by term: Corpus callosum, agenesis of | ClinVar | PMID:31474318 | cerebellar hypoplasia | | ISO | RGD:1320527 | 8554872 | ClinVar Annotator: match by term: Congenital cerebellar hypoplasia | ClinVar | PMID:31474318 | Developmental Disabilities | | ISO | RGD:1320527 | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:25741868, PMID:25741869 | genetic disease | | ISO | RGD:1320527 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:12196208 more ... | INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN | | ISO | RGD:1320527 | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 more ... | intellectual disability | | ISO | RGD:1320527 | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 | Marfanoid Mental Retardation Syndrome, Autosomal | | ISO | RGD:1320527 | 8554872 | ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability | ClinVar | PMID:25741868 | Neurodevelopmental Disorders | | ISO | RGD:1320527 | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar | | Postaxial Polydactyly | | ISO | RGD:1320527 | 8554872 | ClinVar Annotator: match by term: Postaxial polydactyly | ClinVar | PMID:25741868 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
 |
Welcome {{ username}}
Message Center
{{ messageCount }} Messages
Watched Genes
{{$index + 1}}. {{ watchedObject.symbol }} (RGD ID:{{watchedObject.rgdId}})
Watched Ontology Terms
{{gene.symbol}}: {{ gene.description }}
|
| Save what matters to you |
| {{ loginError }} |
| Sign in with your RGD account |
| Create New Account | Recover Password |
Analyze GeneStrainQTL List |
 Gene Annotator (Functional Annotation) unavailable |
 Gene Annotator (Annotation Distribution) unavailable |
 Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable |
Gene Annotator (Functional Annotation) |
Gene Annotator (Annotation Distribution) |
Variant Visualizer (Genomic Variants) |
 InterViewer (Protein-Protein Interactions) unavailable |
 Gviewer (Genome Viewer) unavailable |
 Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable |
InterViewer (Protein-Protein Interactions) |
GViewer (Genome Viewer) |
Variant Visualizer (Damaging Variants) |
 Gene Annotator (Annotation Comparison) unavailable |
 OLGA (Gene List Generator) unavailable |
 |
Gene Annotator (Annotation Comparison) |
OLGA (Gene List Generator) |
Excel (Download) |
 MOET (Multi-Ontology Enrichement) unavailable |
 GOLF (Gene-Ortholog Location Finder) unavailable |
|
MOET (Multi-Ontology Enrichement) |
GOLF (Gene-Ortholog Location Finder) |
|
||||||||
Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
Gene Ontology Annotations Click to see Annotation Detail View
Biological Process
Cellular Component
Molecular Function
Disease Annotations
Click to see Annotation Detail View
Gene-Chemical Interaction Annotations
Click to see Annotation Detail View
|
|
|
Gene Ontology Annotations
Click to see Annotation Detail View
Biological Process
|
|
|
Cellular Component
|
|
|
Molecular Function
|
|
|
References
References - curated
| 1. | Al-Allawi NA, etal., Genet Test Mol Biomarkers. 2015 May;19(5):242-7. doi: 10.1089/gtmb.2014.0310. Epub 2015 Mar 9. |
| 2. | Basak A, etal., J Clin Invest. 2015 Jun;125(6):2363-8. doi: 10.1172/JCI81163. Epub 2015 May 4. |
| 3. | Chu NL, etal., Evid Based Complement Alternat Med. 2014;2014:213782. doi: 10.1155/2014/213782. Epub 2014 Dec 10. |
| 4. | De Rubeis S, etal., Nature. 2014 Nov 13;515(7526):209-15. doi: 10.1038/nature13772. Epub 2014 Oct 29. |
| 5. | Flanagan JM, etal., Br J Haematol. 2012 Apr;157(2):240-8. doi: 10.1111/j.1365-2141.2012.09061.x. Epub 2012 Feb 24. |
| 6. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 7. | GOA data from the GO Consortium |
| 8. | He Y, etal., J Pediatr Hematol Oncol. 2012 May;34(4):323-4. doi: 10.1097/MPH.0b013e3182370bff. |
| 9. | Jiang BY, etal., Mol Cancer. 2013 Jun 12;12:61. doi: 10.1186/1476-4598-12-61. |
| 10. | Kuo TY and Hsueh YP, J Neurosci Res. 2007 Jun;85(8):1628-36. |
| 11. | Kuo TY, etal., J Neurochem. 2010 Sep 1;114(5):1381-92. doi: 10.1111/j.1471-4159.2010.06852.x. Epub 2010 Jun 8. |
| 12. | Kuo TY, etal., J Neurosci Res. 2010 Aug 15;88(11):2364-73. doi: 10.1002/jnr.22407. |
| 13. | Kuo TY, etal., Mol Cell Neurosci. 2009 Nov;42(3):195-207. doi: 10.1016/j.mcn.2009.07.006. Epub 2009 Jul 17. |
| 14. | Lettre G, etal., Proc Natl Acad Sci U S A. 2008 Aug 19;105(33):11869-74. doi: 10.1073/pnas.0804799105. Epub 2008 Jul 30. |
| 15. | MGD data from the GO Consortium |
| 16. | Neishabury M, etal., Blood Cells Mol Dis. 2013 Aug;51(2):80-4. doi: 10.1016/j.bcmd.2013.02.007. Epub 2013 Mar 28. |
| 17. | RGD automated data pipeline |
| 18. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 19. | RGD automated import pipeline for gene-chemical interactions |
| 20. | Satterwhite E, etal., Blood. 2001 Dec 1;98(12):3413-20. |
| 21. | Xu J, etal., Science. 2011 Nov 18;334(6058):993-6. doi: 10.1126/science.1211053. Epub 2011 Oct 13. |
Additional References at PubMed
| PMID:10744719 | PMID:12477932 | PMID:12717432 | PMID:18681895 | PMID:19153051 | PMID:19657335 |
Genomics
