Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Childhood Schizophrenia | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Childhood-Onset Schizophrenia | ClinVar | PMID:26508570 | Kniest Like Dysplasia Lethal | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Lethal Kniest-like syndrome | ClinVar | PMID:25803036 more ... | Kniest Like Dysplasia Lethal | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Lethal Kniest-like syndrome | ClinVar | PMID:24088041 more ... | Kniest Like Dysplasia Lethal | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Lethal Kniest-like syndrome | ClinVar | PMID:25741868, PMID:28492532 | Kniest Like Dysplasia Lethal | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Lethal Kniest-like syndrome | ClinVar | PMID:26467025 more ... | Kniest Like Dysplasia Lethal | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Lethal Kniest-like syndrome | ClinVar | PMID:25504735 | Kniest Like Dysplasia Lethal | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Lethal Kniest-like syndrome | ClinVar | PMID:26508570 | Kniest Like Dysplasia Lethal | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Lethal Kniest-like syndrome | ClinVar | PMID:24088041 more ... | Kniest Like Dysplasia Lethal | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Lethal Kniest-like syndrome | ClinVar | PMID:25504735 more ... | Kniest Like Dysplasia Lethal | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Lethal Kniest-like syndrome | ClinVar | PMID:25741868, PMID:34244600 | Kniest Like Dysplasia Lethal | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Lethal Kniest-like syndrome | ClinVar | PMID:26467025 more ... | Kniest Like Dysplasia Lethal | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Lethal Kniest-like syndrome | ClinVar | PMID:24781210 more ... | Kniest Like Dysplasia Lethal | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Lethal Kniest-like syndrome | ClinVar | PMID:28242392 | Kniest Like Dysplasia Lethal | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Lethal Kniest-like syndrome | ClinVar | PMID:26467025 more ... | Kniest Like Dysplasia Lethal | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Lethal Kniest-like syndrome | ClinVar | PMID:26467025, PMID:28492532 | Kniest Like Dysplasia Lethal | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Lethal Kniest-like syndrome | ClinVar | PMID:25741868, PMID:26467025 | Kniest Like Dysplasia Lethal | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Lethal Kniest-like syndrome | ClinVar | PMID:11279527 | Kniest Like Dysplasia Lethal | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Lethal Kniest-like syndrome | ClinVar | PMID:28492532 | Kniest Like Dysplasia Lethal | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Lethal Kniest-like syndrome | ClinVar | PMID:26467025 | Kniest Like Dysplasia Lethal | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Lethal Kniest-like syndrome | ClinVar | | Kniest Like Dysplasia Lethal | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Lethal Kniest-like syndrome | ClinVar | PMID:25741868 | Kniest Like Dysplasia Lethal | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Lethal Kniest-like syndrome | ClinVar | PMID:25741881 | Kniest Like Dysplasia Lethal | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Lethal Kniest-like syndrome | ClinVar | PMID:25741868 more ... | microcephaly | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Microcephaly | ClinVar | PMID:25741868 | microcephaly | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Microcephaly | ClinVar | PMID:25741868, PMID:28492532 | osteochondrodysplasia | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Chondrodystrophic myotonia | ClinVar | PMID:25741868 | Schwartz-Jampel syndrome 1 | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Schwartz-Jampel syndrome | ClinVar | PMID:24088041 more ... | Schwartz-Jampel syndrome 1 | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Schwartz-Jampel syndrome | ClinVar | PMID:16927315 more ... | Schwartz-Jampel syndrome 1 | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Schwartz-Jampel syndrome | ClinVar | PMID:26467025 more ... | Schwartz-Jampel syndrome 1 | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Schwartz-Jampel syndrome | ClinVar | PMID:27521129 | Schwartz-Jampel syndrome 1 | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Schwartz-Jampel syndrome | ClinVar | PMID:28242392 | Schwartz-Jampel syndrome 1 | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Schwartz-Jampel syndrome | ClinVar | PMID:24088041 more ... | Schwartz-Jampel syndrome 1 | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Schwartz-Jampel syndrome | ClinVar | PMID:25504735 | Schwartz-Jampel syndrome 1 | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Schwartz Jampel syndrome type 1 | ClinVar | PMID:26467025 more ... | Schwartz-Jampel syndrome 1 | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Schwartz Jampel syndrome type 1 | ClinVar | PMID:26467025 more ... | Schwartz-Jampel syndrome 1 | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Schwartz Jampel syndrome type 1 | ClinVar | PMID:25741868 more ... | Schwartz-Jampel syndrome 1 | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Schwartz Jampel syndrome type 1 | ClinVar | PMID:25741868 more ... | Schwartz-Jampel syndrome 1 | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Schwartz Jampel syndrome type 1 | ClinVar | PMID:25741868, PMID:28492532 | Schwartz-Jampel syndrome 1 | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Schwartz Jampel syndrome type 1 | ClinVar | PMID:24781210 more ... | Schwartz-Jampel syndrome 1 | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Schwartz Jampel syndrome type 1 | ClinVar | PMID:28492532 | Schwartz-Jampel syndrome 1 | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Schwartz Jampel syndrome type 1 | ClinVar | PMID:25504735 more ... | Schwartz-Jampel syndrome 1 | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Schwartz Jampel syndrome type 1 | ClinVar | PMID:26467025, PMID:28492532 | Schwartz-Jampel syndrome 1 | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Schwartz Jampel syndrome type 1 | ClinVar | PMID:11941538 | Schwartz-Jampel syndrome 1 | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Schwartz Jampel syndrome type 1 | ClinVar | PMID:26508570 | Schwartz-Jampel syndrome 1 | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Schwartz Jampel syndrome type 1 | ClinVar | PMID:11101850 | Schwartz-Jampel syndrome 1 | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Schwartz Jampel syndrome type 1 | ClinVar | PMID:11101850, PMID:17213231 | Schwartz-Jampel syndrome 1 | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Schwartz Jampel syndrome type 1 | ClinVar | PMID:11038441, PMID:11941538 | Schwartz-Jampel syndrome 1 | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Schwartz Jampel syndrome type 1 | ClinVar | PMID:25741868 | Schwartz-Jampel syndrome 1 | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Schwartz-Jampel syndrome | ClinVar | PMID:11279527 more ... | Schwartz-Jampel syndrome 1 | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Schwartz Jampel syndrome type 1 | ClinVar | PMID:26467025 | Schwartz-Jampel syndrome 1 | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Schwartz Jampel syndrome type 1 | ClinVar | | Schwartz-Jampel syndrome 1 | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Schwartz-Jampel Syndrome | ClinVar | PMID:25741868, PMID:26467025 | Schwartz-Jampel syndrome 1 | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Schwartz-Jampel syndrome | ClinVar | PMID:25803036 more ... | Schwartz-Jampel syndrome 1 | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Schwartz-Jampel syndrome | ClinVar | PMID:20080505 more ... | Schwartz-Jampel syndrome 1 | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Schwartz-Jampel syndrome | ClinVar | PMID:25741868 more ... | Silverman-Handmaker type dyssegmental dysplasia | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Anisospondylic camptomicromelic dwarfism Silverman-Handmaker type | ClinVar | PMID:25741868 | Stuve-Wiedemann Syndrome | | ISO | RGD:1351428 | 8554872 | ClinVar Annotator: match by term: Stuve-Wiedemann syndrome | ClinVar | PMID:25741868 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - MGI
Imported Disease Annotations - OMIM
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References
References - curated
| 1. | Bollineni JS, etal., Curr Eye Res. 1997 Feb;16(2):127-30. |
| 2. | Gallai M, etal., Biochem Biophys Res Commun. 1996 Nov 21;228(3):690-4. |
| 3. | Garl PJ, etal., Circ Res 2004 Feb 6;94(2):175-83. Epub 2003 Dec 1. |
| 4. | Jones JC, etal., J Cell Sci. 2005 Jun 15;118(Pt 12):2557-66. Epub 2005 May 31. |
| 5. | Ko CW, etal., Mol Cell Biochem 1996 Sep 6;162(1):65-73. |
| 6. | LaFramboise WA, etal., Mol Diagn Ther. 2006;10(3):187-96. |
| 7. | Li YZ, etal., Sheng Li Xue Bao. 2007 Apr 25;59(2):221-6. |
| 8. | Lipke DW, etal., Hypertension. 1993 Nov;22(5):743-53. |
| 9. | Lundmark K, etal., J Cell Physiol. 2001 Jul;188(1):67-74. |
| 10. | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
| 11. | Nicole S, etal., Nat Genet. 2000 Dec;26(4):480-3. |
| 12. | OMIM Disease Annotation Pipeline |
| 13. | Palma V, etal., Biol Res. 2011;44(1):63-7. doi: 10.4067/S0716-97602011000100008. Epub 2011 May 11. |
| 14. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 15. | RGD automated import pipeline for gene-chemical interactions |
| 16. | RGD comprehensive gene curation |
| 17. | Rothblum K, etal., J Biol Chem. 2004 Dec 3;279(49):51282-8. Epub 2004 Sep 20. |
| 18. | Slater M and Murphy CR, Matrix Biol. 1999 Apr;18(2):125-31. |
| 19. | Tran PK, etal., Atherosclerosis. 2007 Feb;190(2):264-70. Epub 2006 Apr 18. |
| 20. | Vogl-Willis CA and Edwards IJ, Biochim Biophys Acta. 2004 Apr 7;1672(1):36-45. |
| 21. | Winkler S, etal., J Neurosci Res 2002 Aug 15;69(4):477-87. |
Additional References at PubMed
| PMID:7670489 | PMID:10352025 | PMID:10545953 | PMID:10579729 | PMID:11787818 | PMID:11802174 | PMID:12588956 | PMID:12604605 | PMID:12615671 | PMID:15381701 | PMID:15895400 | PMID:15928325 |
| PMID:16407285 | PMID:16502470 | PMID:17525255 | PMID:18757743 | PMID:19056867 | PMID:19199708 | PMID:20551380 | PMID:21126803 | PMID:21289173 | PMID:21362503 | PMID:21423176 | PMID:21747167 |
| PMID:21850672 | PMID:22206666 | PMID:22952693 | PMID:23217742 | PMID:23235151 | PMID:23376485 | PMID:23533145 | PMID:23658023 | PMID:23979707 | PMID:24006456 | PMID:25781054 | PMID:26246161 |
| PMID:27068509 | PMID:27559042 | PMID:31505169 |
Genomics
