Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Abnormal Cortical Gyration | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by term: Abnormal cortical gyration | ClinVar | PMID:18414213 | autistic disorder | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by term: Autistic disorder of childhood onset | ClinVar | PMID:21681106, PMID:30208311 | Classical Lissencephalies and Subcortical Band Heterotopias | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by term: Lissencephaly, X-linked | ClinVar | PMID:25741868, PMID:9489699 | Classical Lissencephalies and Subcortical Band Heterotopias | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by term: Lissencephaly, X-linked | ClinVar | PMID:18414213 | Classical Lissencephalies and Subcortical Band Heterotopias | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by term: Lissencephaly, X-linked | ClinVar | PMID:17111359 more ... | Classical Lissencephalies and Subcortical Band Heterotopias | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by term: Lissencephaly, X-linked | ClinVar | PMID:18414213, PMID:25741868 | Classical Lissencephalies and Subcortical Band Heterotopias | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by term: Lissencephaly, X-linked | ClinVar | PMID:29706646 | Classical Lissencephalies and Subcortical Band Heterotopias | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by term: Lissencephaly, X-linked | ClinVar | | Classical Lissencephalies and Subcortical Band Heterotopias | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by term: Lissencephaly, X-linked | ClinVar | PMID:25741868, PMID:32238909 | Classical Lissencephalies and Subcortical Band Heterotopias | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by term: Lissencephaly, X-linked | ClinVar | PMID:25741868 | Classical Lissencephalies and Subcortical Band Heterotopias | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by OMIM:300067 | ClinVar | PMID:12552055 | Classical Lissencephalies and Subcortical Band Heterotopias | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by OMIM:300067 | ClinVar | PMID:9489700 | Classical Lissencephalies and Subcortical Band Heterotopias | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by OMIM:300067 | ClinVar | PMID:9489699 | Classical Lissencephalies and Subcortical Band Heterotopias | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by OMIM:300067 | ClinVar | PMID:18414213 more ... | Classical Lissencephalies and Subcortical Band Heterotopias | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by OMIM:300067 | ClinVar | PMID:11468322, PMID:18414213 | developmental and epileptic encephalopathy 36 | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by term: Epileptic encephalopathy more ... | ClinVar | PMID:28492532 | fucosidosis | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by term: Fucosidosis | ClinVar | PMID:25741868 | genetic disease | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | lissencephaly | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by term: Lissencephaly | ClinVar | PMID:18414213, PMID:29671837 | lissencephaly | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by term: Lissencephaly | ClinVar | PMID:29671837 | Lissencephaly and Agenesis of Corpus Callosum | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by term: Subcortical laminar heterotopia, X-linked | ClinVar | PMID:11468322, PMID:18414213 | Lissencephaly and Agenesis of Corpus Callosum | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by term: Subcortical laminar heterotopia, X-linked | ClinVar | PMID:25741868, PMID:9489699 | Lissencephaly and Agenesis of Corpus Callosum | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by term: Subcortical laminar heterotopia, X-linked | ClinVar | PMID:25741868 | Lissencephaly and Agenesis of Corpus Callosum | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by term: Lissencephaly and agenesis of corpus callosum | ClinVar | PMID:18414213, PMID:25741868 | Lissencephaly and Agenesis of Corpus Callosum | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by term: Lissencephaly and agenesis of corpus callosum | ClinVar | PMID:17111359 more ... | Lissencephaly and Agenesis of Corpus Callosum | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by term: Lissencephaly and agenesis of corpus callosum | ClinVar | PMID:9489699 | Lissencephaly and Agenesis of Corpus Callosum | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by term: Lissencephaly and agenesis of corpus callosum | ClinVar | PMID:9489700 | Lissencephaly and Agenesis of Corpus Callosum | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by term: Lissencephaly and agenesis of corpus callosum | ClinVar | PMID:12552055 | Lissencephaly and Agenesis of Corpus Callosum | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by synonym: Subcortical laminar heterotopia, X-linked | ClinVar | PMID:10441340 | Lissencephaly and Agenesis of Corpus Callosum | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by term: Subcortical laminar heterotopia, X-linked | ClinVar | PMID:18414213 more ... | schizophrenia | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by term: Schizophrenia | ClinVar | PMID:21681106, PMID:30208311 | syndromic X-linked intellectual disability Lubs type | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by term: MECP2 duplication syndrome | ClinVar | PMID:25741868 | X-linked lissencephaly 1 | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by term: LISSENCEPHALY more ... | ClinVar | PMID:17111359 more ... | X-linked lissencephaly 1 | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by term: LISSENCEPHALY more ... | ClinVar | PMID:11468322, PMID:18414213 | X-linked lissencephaly 1 | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by term: LISSENCEPHALY more ... | ClinVar | PMID:18414213 more ... | X-linked lissencephaly 1 | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by term: LISSENCEPHALY more ... | ClinVar | PMID:18414213, 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 - MGI
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
Phenotype Annotations Click to see Annotation Detail View
Mammalian Phenotype
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
|
|
|
Phenotype Annotations
Click to see Annotation Detail View
References
References - curated
| 1. | Aigner L, etal., Neuropediatrics. 2000 Aug;31(4):195-8. |
| 2. | Bai J, etal., Nat Neurosci 2003 Dec;6(12):1277-83. Epub 2003 Nov 16. |
| 3. | Corbo JC, etal., J Neurosci 2002 Sep 1;22(17):7548-57. |
| 4. | D'Alessio L, etal., Seizure. 2010 Nov;19(9):567-72. doi: 10.1016/j.seizure.2010.09.004. |
| 5. | des Portes V, etal., Hum Mol Genet. 1998 Jul;7(7):1063-70. |
| 6. | Fournier NM, etal., Hippocampus. 2009 Jun 4. |
| 7. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 8. | GOA data from the GO Consortium |
| 9. | Guerrini R, etal., Ann Neurol. 2003 Jul;54(1):30-7. |
| 10. | Haverfield EV, etal., Eur J Hum Genet. 2009 Jul;17(7):911-8. doi: 10.1038/ejhg.2008.213. Epub 2008 Dec 3. |
| 11. | Juhasova J, etal., Cell Mol Neurobiol. 2015 Jan;35(1):57-70. doi: 10.1007/s10571-014-0145-7. Epub 2014 Dec 9. |
| 12. | Kato M, etal., Hum Genet. 1999 Apr;104(4):341-4. |
| 13. | Kremer T, etal., PLoS One. 2013 May 14;8(5):e59269. doi: 10.1371/journal.pone.0059269. Print 2013. |
| 14. | Lapray D, etal., Cereb Cortex. 2010 Nov;20(11):2694-701. doi: 10.1093/cercor/bhq014. Epub 2010 Feb 17. |
| 15. | Manent JB, etal., Nat Med. 2009 Jan;15(1):84-90. doi: 10.1038/nm.1897. Epub 2008 Dec 21. |
| 16. | MGD data from the GO Consortium |
| 17. | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
| 18. | Nosten-Bertrand M, etal., PLoS One. 2008 Jun 25;3(6):e2473. doi: 10.1371/journal.pone.0002473. |
| 19. | OMIM Disease Annotation Pipeline |
| 20. | RGD automated data pipeline |
| 21. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 22. | RGD automated import pipeline for gene-chemical interactions |
| 23. | Santra M, etal., Cancer Res. 2006 Dec 15;66(24):11726-35. |
| 24. | Santra M, etal., Cancer Sci. 2011 Jul;102(7):1350-7. doi: 10.1111/j.1349-7006.2011.01952.x. Epub 2011 May 10. |
| 25. | Santra M, etal., J Neurosci Res. 2010 Feb 1;88(2):304-14. doi: 10.1002/jnr.22207. |
| 26. | Tint I, etal., J Neurosci. 2009 Sep 2;29(35):10995-1010. doi: 10.1523/JNEUROSCI.3399-09.2009. |
| 27. | Tsai MH, etal., Eur J Paediatr Neurol. 2016 Sep;20(5):788-94. doi: 10.1016/j.ejpn.2016.05.010. Epub 2016 May 30. |
| 28. | Wang Y, etal., Arch Med Res. 2012 May;43(4):255-64. doi: 10.1016/j.arcmed.2012.05.002. Epub 2012 May 15. |
| 29. | Xu X, etal., Nan Fang Yi Ke Da Xue Xue Bao. 2013 Oct;33(10):1437-41. |
| 30. | Yap CC, etal., J Neurosci. 2012 May 30;32(22):7439-53. doi: 10.1523/JNEUROSCI.5318-11.2012. |
| 31. | Yi SS, etal., Neurochem Res. 2009 Jun;34(6):1039-46. doi: 10.1007/s11064-008-9870-y. Epub 2008 Nov 4. |
Additional References at PubMed
| PMID:12223548 | PMID:14741102 | PMID:15632090 | PMID:15804431 | PMID:16387638 | PMID:16387639 | PMID:17026970 | PMID:17161913 | PMID:17409252 | PMID:18075265 | PMID:18177494 | PMID:18647639 |
| PMID:18803236 | PMID:18854839 | PMID:19342486 | PMID:20857512 | PMID:21689730 | PMID:22038821 | PMID:22197046 | PMID:22198017 | PMID:22198688 | PMID:23001563 | PMID:23447615 | PMID:23852478 |
| PMID:23861879 | PMID:24367100 | PMID:25209608 | PMID:27487661 | PMID:29476059 | PMID:32236698 |
Genomics
