Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | acrofacial dysostosis Cincinnati type | | ISO | RGD:1345694 | 7240710 | | OMIM | | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
 |
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) |
|
||||||||
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
Molecular Pathway Annotations Click to see Annotation Detail View
RGD Manual Annotations
Imported Annotations - SMPDB
Imported Annotations - KEGG (archival)
Phenotype Annotations Click to see Annotation Detail View
Mammalian Phenotype
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
|
|
|
Molecular Pathway Annotations
Click to see Annotation Detail View
|
|
Phenotype Annotations
Click to see Annotation Detail View
Mammalian Phenotype
References
References - curated
| 1. | MGD and Homologene mouse data transfer |
| 2. | MGD data from the GO Consortium |
| 3. | Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73. |
| 4. | Pipeline to import KEGG annotations from KEGG into RGD |
| 5. | Pipeline to import SMPDB annotations from SMPDB into RGD |
| 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. | Schneider DA Gene. 2012 Feb 10;493(2):176-84. doi: 10.1016/j.gene.2011.08.006. Epub 2011 Aug 26. |
| 9. | Vannini A and Cramer P, Mol Cell. 2012 Feb 24;45(4):439-46. doi: 10.1016/j.molcel.2012.01.023. |
| 10. | Wheeler DL, etal., Nucleic Acids Res 2001 Jan 1;29(1):11-6. |
Additional References at PubMed
| PMID:9236775 | PMID:10349636 | PMID:10922068 | PMID:11042159 | PMID:11076861 | PMID:11217851 | PMID:12446911 | PMID:12477932 | PMID:12520002 | PMID:14610273 | PMID:14681479 | PMID:15226435 |
| PMID:15489334 | PMID:15782199 | PMID:16141072 | PMID:16141073 | PMID:18799693 | PMID:20059953 | PMID:20211142 | PMID:21059229 | PMID:21267068 | PMID:21873635 | PMID:23667505 | PMID:30272023 |
| PMID:30746471 | PMID:32325033 |
Genomics
