Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | acrocallosal syndrome | | ISO | RGD:1343265 | 8554872 | ClinVar Annotator: match by term: Acrocallosal syndrome, Schinzel type | ClinVar | | acrocallosal syndrome | | ISO | RGD:1343265 | 8554872 | ClinVar Annotator: match by term: Acrocallosal syndrome | ClinVar | PMID:25131622 more ... | acrocallosal syndrome | | ISO | RGD:1343265 | 8554872 | ClinVar Annotator: match by term: Acrocallosal syndrome | ClinVar | PMID:17576681 more ... | acrocallosal syndrome | | ISO | RGD:1343265 | 8554872 | ClinVar Annotator: match by term: Acrocallosal syndrome | ClinVar | PMID:21633164 more ... | acrocallosal syndrome | | ISO | RGD:1343265 | 8554872 | ClinVar Annotator: match by term: Acrocallosal syndrome | ClinVar | PMID:21552264 more ... | acrocallosal syndrome | | ISO | RGD:1343265 | 8554872 | ClinVar Annotator: match by term: Acrocallosal syndrome, Schinzel type | ClinVar | PMID:21552264 more ... | acrocallosal syndrome | | ISO | RGD:1343265 | 8554872 | ClinVar Annotator: match by term: Acrocallosal syndrome, Schinzel type | ClinVar | PMID:19666503 more ... | acrocallosal syndrome | | ISO | RGD:1343265 | 8554872 | ClinVar Annotator: match by term: Acrocallosal syndrome, Schinzel type | ClinVar | PMID:21552264, PMID:28492532 | acrocallosal syndrome | | ISO | RGD:1343265 | 8554872 | ClinVar Annotator: match by term: Acrocallosal syndrome, Schinzel type | ClinVar | PMID:25131622 more ... | acrocallosal syndrome | | ISO | RGD:1343265 | 8554872 | ClinVar Annotator: match by term: Acrocallosal syndrome, Schinzel type | ClinVar | PMID:25741868, PMID:29321670 | acrocallosal syndrome | | ISO | RGD:1343265 | 8554872 | ClinVar Annotator: match by term: Acrocallosal syndrome, Schinzel type | ClinVar | PMID:24033266, PMID:26092869 | acrocallosal syndrome | | ISO | RGD:1343265 | 8554872 | ClinVar Annotator: match by term: Acrocallosal syndrome, Schinzel type | ClinVar | PMID:26092869, PMID:28492532 | acrocallosal syndrome | | ISO | RGD:1343265 | 8554872 | ClinVar Annotator: match by term: Acrocallosal syndrome, Schinzel type | ClinVar | PMID:28492532 | acrocallosal syndrome | | ISO | RGD:1343265 | 8554872 | ClinVar Annotator: match by term: Acrocallosal syndrome | ClinVar | PMID:18414213 more ... | acrocallosal syndrome | | ISO | RGD:1343265 | 8554872 | ClinVar Annotator: match by term: Acrocallosal syndrome, Schinzel type | ClinVar | PMID:21552264 more ... | acrocallosal syndrome | | ISO | RGD:1343265 | 8554872 | ClinVar Annotator: match by term: Acrocallosal syndrome | ClinVar | PMID:19666503 more ... | acrocallosal syndrome | | ISO | RGD:1343265 | 8554872 | ClinVar Annotator: match by term: Acrocallosal syndrome | ClinVar | PMID:16199547 more ... | acrocallosal syndrome | | ISO | RGD:1343265 | 8554872 | ClinVar Annotator: match by term: Acrocallosal syndrome | ClinVar | PMID:19666503 more ... | acrocallosal syndrome | | ISO | RGD:1343265 | 8554872 | ClinVar Annotator: match by term: Acrocallosal syndrome, Schinzel type | ClinVar | PMID:25741868 | acrocallosal syndrome | | ISO | RGD:1343265 | 8554872 | ClinVar Annotator: match by term: Joubert syndrome 12/15, digenic | ClinVar | PMID:21633164, PMID:22246503 | acrocallosal syndrome | | ISO | RGD:1343265 | 8554872 | ClinVar Annotator: match by term: Acrocallosal syndrome, Schinzel type | ClinVar | PMID:21552264 | acrocallosal syndrome | | ISO | RGD:1343265 | 8554872 | ClinVar Annotator: match by term: Acrocallosal syndrome, Schinzel type | ClinVar | PMID:25741868, PMID:28492532 | Bloom syndrome | | ISO | RGD:1343265 | 8554872 | ClinVar Annotator: match by term: Bloom syndrome | ClinVar | PMID:28492532 | cerebellar ataxia | | ISO | RGD:1343265 | 8554872 | ClinVar Annotator: match by term: Cerebellar ataxia | ClinVar | PMID:25741868 | colon cancer | | ISO | RGD:1343265 | 8554872 | ClinVar Annotator: match by term: COLON CANCER | ClinVar | PMID:28492532 | genetic disease | | ISO | RGD:1343265 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:16199547 more ... | hydrolethalus syndrome 2 | | ISO | RGD:1343265 | 8554872 | ClinVar Annotator: match by term: Hydrolethalus syndrome 2 | ClinVar | PMID:21552264 more ... | hydrolethalus syndrome 2 | | ISO | RGD:1343265 | 8554872 | ClinVar Annotator: match by term: Hydrolethalus syndrome 2 | ClinVar | PMID:21552264, PMID:28492532 | hydrolethalus syndrome 2 | | ISO | RGD:1343265 | 8554872 | ClinVar Annotator: match by term: Hydrolethalus syndrome 2 | ClinVar | PMID:25741868, PMID:28492532 | hydrolethalus syndrome 2 | | ISO | RGD:1343265 | 8554872 | ClinVar Annotator: match by term: Hydrolethalus syndrome 2 | ClinVar | PMID:25741868 | idiopathic scoliosis | | ISO | RGD:1343265 | 8554872 | ClinVar Annotator: match by term: Scoliosis more ... | ClinVar | PMID:21552264 more ... | intellectual disability | | ISO | RGD:1343265 | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868, PMID:28492532 | intellectual disability | | ISO | RGD:1343265 | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:21633164 more ... | intellectual disability | | ISO | RGD:1343265 | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:21552264 more ... | intellectual disability | | ISO | RGD:1343265 | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 | Joubert syndrome 1 | | ISO | RGD:1343265 | 8554872 | ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar | PMID:21633164, PMID:25741868 | Joubert Syndrome 12 | | ISO | RGD:1343265 | 8554872 | ClinVar Annotator: match by term: Joubert syndrome 12 | ClinVar | PMID:21633164 | Joubert Syndrome 12 | | ISO | RGD:1343265 | 8554872 | ClinVar Annotator: match by term: Joubert syndrome 12 | ClinVar | PMID:21633164, PMID:22246503 | Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies | | ISO | RGD:1343265 | 8554872 | ClinVar Annotator: match by OMIM:607131 | ClinVar | PMID:22587682, PMID:9689990 | Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies | | ISO | RGD:1343265 | 8554872 | ClinVar Annotator: match by term: Macrocephaly with multiple epiphyseal dysplasia and distinctive facies | ClinVar | PMID:21552264 more ... | Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies | | ISO | RGD:1343265 | 8554872 | ClinVar Annotator: match by term: Macrocephaly with multiple epiphyseal dysplasia and distinctive facies | ClinVar | PMID:25741868, PMID:28492532 | Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies | | ISO | RGD:1343265 | 8554872 | ClinVar Annotator: match by term: Macrocephaly with multiple epiphyseal dysplasia and distinctive facies | ClinVar | PMID:25741868 | nephronophthisis | | ISO | RGD:1343265 | 8554872 | ClinVar Annotator: match by term: Nephronophthisis 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Imported Disease Annotations - CTD
Imported Disease Annotations - MGI
Imported Disease Annotations - OMIM
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
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References
References - curated
| 1. | de Araujo TK, etal., J Craniomaxillofac Surg. 2016 Jan;44(1):16-20. doi: 10.1016/j.jcms.2015.07.026. Epub 2015 Aug 13. |
| 2. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 3. | OMIM Disease Annotation Pipeline |
| 4. | Putoux A, etal., J Med Genet. 2012 Nov;49(11):713-20. doi: 10.1136/jmedgenet-2012-101016. |
| 5. | Putoux A, etal., Nat Genet. 2011 Jun;43(6):601-6. doi: 10.1038/ng.826. Epub 2011 May 8. |
| 6. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 7. | RGD automated import pipeline for gene-chemical interactions |
| 8. | RGD comprehensive gene curation |
| 9. | Takahashi T, etal., J Pediatr Surg. 2015 Jun;50(6):904-7. doi: 10.1016/j.jpedsurg.2015.03.058. Epub 2015 Apr 11. |
Additional References at PubMed
| PMID:19549984 | PMID:19592253 | PMID:19666503 | PMID:21633164 | PMID:24952464 | PMID:25644602 | PMID:25807483 | PMID:30361391 |
Genomics
