Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autism spectrum disorder | | ISO | RERE (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar | PMID:30504930 | autistic disorder | | ISO | RERE (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism | ClinVar | PMID:28492532 | Cerebral Visual Impairment and Intellectual Disability | | ISO | RERE (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability | ClinVar | PMID:26350515 and PMID:27087320 | chromosome 1p36 deletion syndrome | | ISO | RERE (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome | ClinVar | | Developmental Disabilities | | ISO | RERE (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:25741868 | Developmental Disease | | ISO | RERE (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental disorder | ClinVar | PMID:25741868 | genetic disease | | ISO | RERE (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 more ... | Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart | | ISO | RERE (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:17576681 more ... | Neurodevelopmental Disorders | | ISO | RERE (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
 |
Welcome {{ username}}
Message Center
{{ messageCount }} Messages
Watched Genes
{{$index + 1}}. {{ watchedObject.symbol }} (RGD ID:{{watchedObject.rgdId}})
Watched Ontology Terms
{{gene.symbol}}: {{ gene.description }}
|
| You must be logged in to use this feature |
| {{ loginError }} |
|
|
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 - 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
| # | Reference Title | Reference Citation |
| 1. | Mouse brain organization revealed through direct genome-scale TF expression analysis. | Gray PA, etal., Science 2004 Dec 24;306(5705):2255-7. |
| 2. | Genotype-phenotype correlations in individuals with pathogenic RERE variants. | Jordan VK, etal., Hum Mutat. 2018 May;39(5):666-675. doi: 10.1002/humu.23400. Epub 2018 Jan 25. |
| 3. | Functional annotation of a full-length mouse cDNA collection. | Kawai J, etal., Nature. 2001 Feb 8;409(6821):685-90. |
| 4. | RERE deficiency causes retinal and optic nerve atrophy through degeneration of retinal cells. | Kim BJ and Scott DA, Dev Dyn. 2021 Oct;250(10):1398-1409. doi: 10.1002/dvdy.330. Epub 2021 Mar 29. |
| 5. | RERE deficiency contributes to the development of orofacial clefts in humans and mice. | Kim BJ, etal., Hum Mol Genet. 2021 May 12;30(7):595-602. doi: 10.1093/hmg/ddab084. |
| 6. | MGDs mouse GO annotations | MGD data from the GO Consortium |
| 7. | MGD IEA | MGD IEA |
| 8. | Prediction of the coding sequences of mouse homologues of KIAA gene: II. The complete nucleotide sequences of 400 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. | Okazaki N, etal., DNA Res 2003 Feb 28;10(1):35-48. |
| 9. | Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. | Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73. |
| 10. | Mouse MP Annotation Import Pipeline | RGD automated import pipeline |
| 11. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 12. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
Additional References at PubMed
| PMID:8889548 | PMID:10349636 | PMID:10512203 | PMID:10922068 | PMID:11042159 | PMID:11076861 | PMID:12477932 | PMID:12520002 | PMID:12904583 | PMID:14610273 | PMID:14645126 | PMID:15840001 |
| PMID:16141072 | PMID:16141073 | PMID:17150957 | PMID:17967808 | PMID:18287559 | PMID:18799693 | PMID:19131340 | PMID:20164929 | PMID:21267068 | PMID:21677750 | PMID:21873635 | PMID:22510986 |
| PMID:23451234 | PMID:24466353 | PMID:24952961 | PMID:26921296 | PMID:27087320 | PMID:28335007 | PMID:30061196 | PMID:30550785 | PMID:34709266 | PMID:35593225 |
Genomics
Comparative Map Data
| Rere (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| RERE (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rere (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rere (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| RERE (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| RERE (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rere (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| RERE (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| RERE (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rere (Heterocephalus glaber - naked mole-rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Variants
.
Variants in Rere
871 total Variants 
|
