Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autistic disorder | | ISO | RBMX (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism | ClinVar | PMID:21681106 and PMID:30208311 | Christianson syndrome | | ISO | RBMX (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Christianson syndrome | ClinVar | PMID:15319456 more ... | Chromosome Xq26.3 Duplication Syndrome | | ISO | RBMX (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome | ClinVar | PMID:25712922 and PMID:26935837 | Congenital Heart Defects, Multiple Types, 1, X-Linked | | ISO | RBMX (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Heterotaxy more ... | ClinVar | PMID:15319456 more ... | genetic disease | | ISO | RBMX (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | syndromic X-linked intellectual disability Lubs type | | ISO | RBMX (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type | ClinVar | PMID:25741868 | syndromic X-linked intellectual disability Shashi type | | ISO | RBMX (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Shashi type | ClinVar | PMID:10677307 more ... | X-linked hyper IgM syndrome | | ISO | RBMX (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 | ClinVar | PMID:15319456 more ... | X-linked mental retardation Gustavson type | | ISO | RBMX (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mental retardation Gustavson type and X-linked | ClinVar | PMID:25741905 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
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Phenotype Annotations Click to see Annotation Detail View
Mammalian Phenotype
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Phenotype Annotations
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Mammalian Phenotype
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Proteomic analysis of in vivo-assembled pre-mRNA splicing complexes expands the catalog of participating factors. | Chen YI, etal., Nucleic Acids Res. 2007;35(12):3928-44. Epub 2007 May 30. |
| 2. | Functional annotation of a full-length mouse cDNA collection. | Kawai J, etal., Nature. 2001 Feb 8;409(6821):685-90. |
| 3. | MGDs mouse GO annotations | MGD data from the GO Consortium |
| 4. | 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. |
| 5. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 6. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 7. | Mouse MP Annotation Import Pipeline | RGD automated import pipeline |
| 8. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 9. | The spliceosome: design principles of a dynamic RNP machine. | Wahl MC, etal., Cell. 2009 Feb 20;136(4):701-18. doi: 10.1016/j.cell.2009.02.009. |
| 10. | Expression of RBMX after spinal cord injury in rats. | Zhang J, etal., J Mol Neurosci. 2013 Feb;49(2):417-29. doi: 10.1007/s12031-012-9914-2. Epub 2012 Nov 22. |
Additional References at PubMed
| PMID:10349636 | PMID:10391207 | PMID:10922068 | PMID:11042159 | PMID:11076861 | PMID:11544199 | PMID:12477932 | PMID:14762062 | PMID:15782199 | PMID:16033648 | PMID:16141072 | PMID:16141073 |
| PMID:16919269 | PMID:17188681 | PMID:17967808 | PMID:18799693 | PMID:18973680 | PMID:19403048 | PMID:21677750 | PMID:21873635 | PMID:23665500 | PMID:24194600 | PMID:26265008 | PMID:27626380 |
| PMID:27746211 | PMID:28378742 | PMID:28634551 | PMID:30196744 | PMID:30335684 | PMID:30973865 | PMID:31138677 | PMID:32098917 | PMID:32325033 | PMID:34458856 |
Genomics
Comparative Map Data
| Rbmx (Mus musculus - house mouse) |
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| RBMX (Homo sapiens - human) |
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| Rbmx (Rattus norvegicus - Norway rat) |
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| Rbmx (Chinchilla lanigera - long-tailed chinchilla) |
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| RBMX (Pan paniscus - bonobo/pygmy chimpanzee) |
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| RBMX (Canis lupus familiaris - dog) |
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| Rbmx (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| RBMX (Sus scrofa - pig) |
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| RBMX (Chlorocebus sabaeus - green monkey) |
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| Rbmx (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in Rbmx
242 total Variants 
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