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 | 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, Schinzel type | ClinVar | PMID:21552264 more ... | 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:25741868 | acrocallosal syndrome | | ISO | RGD:1343265 | 8554872 | ClinVar Annotator: match by term: Acrocallosal syndrome | ClinVar | PMID:23125460 more ... | 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 | | 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 | genetic disease | | ISO | RGD:1343265 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | 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 | 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:21633164 more ... | intellectual disability | | ISO | RGD:1343265 | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 | intellectual disability | | ISO | RGD:1343265 | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:21552264 more ... | Joubert syndrome | | ISO | RGD:1343265 | 8554872 | ClinVar Annotator: match by term: Joubert syndrome | 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 | ClinVar | PMID:21552264 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
 |
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
|
|
|
Molecular Function
|
|
Phenotype Annotations
Click to see Annotation Detail View
Mammalian Phenotype
|
|
|
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. | Kawai J, etal., Nature. 2001 Feb 8;409(6821):685-90. |
| 3. | MGD data from the GO Consortium |
| 4. | Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73. |
| 5. | OMIM Disease Annotation Pipeline |
| 6. | Putoux A, etal., J Med Genet. 2012 Nov;49(11):713-20. doi: 10.1136/jmedgenet-2012-101016. |
| 7. | Putoux A, etal., Nat Genet. 2011 Jun;43(6):601-6. doi: 10.1038/ng.826. Epub 2011 May 8. |
| 8. | RGD automated import pipeline |
| 9. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 10. | RGD automated import pipeline for gene-chemical interactions |
| 11. | Takahashi T, etal., J Pediatr Surg. 2015 Jun;50(6):904-7. doi: 10.1016/j.jpedsurg.2015.03.058. Epub 2015 Apr 11. |
| 12. | Winter H, etal., Exp Cell Res 1994 Jun;212(2):190-200. |
Additional References at PubMed
| PMID:8889548 | PMID:9275178 | PMID:10349636 | PMID:10922068 | PMID:11042159 | PMID:11076861 | PMID:12477932 | PMID:16141072 | PMID:16141073 | PMID:16459297 | PMID:16783635 | PMID:19549984 |
| PMID:19592253 | PMID:19666503 | PMID:21267068 | PMID:21795282 | PMID:21873635 | PMID:22930757 | PMID:23034632 | PMID:23166838 | PMID:23650387 | PMID:24483844 | PMID:24952464 | PMID:25492966 |
| PMID:25581370 | PMID:25644602 | PMID:25807483 | PMID:25859222 | PMID:26386247 | PMID:26439735 | PMID:26496610 | PMID:26921296 | PMID:27046536 | PMID:27195754 | PMID:27340223 | PMID:28445929 |
| PMID:28671696 | PMID:29351996 | PMID:30445565 | PMID:31825820 | PMID:32098917 | PMID:32325033 |
Genomics
