Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autistic disorder | | ISO | RGD:1318304 | 8554872 | ClinVar Annotator: match by term: Autistic disorder of childhood onset | ClinVar | PMID:21681106, PMID:30208311 | autosomal recessive nonsyndromic deafness 9 | | ISO | RGD:1318304 | 8554872 | ClinVar Annotator: match by term: Deafness, autosomal recessive 9 | ClinVar | PMID:25741868, PMID:27082237 | genetic disease | | ISO | RGD:1318304 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:15565467 more ... | genetic disease | | ISO | RGD:1318304 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | intellectual disability | | ISO | RGD:1318304 | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25167861 | intellectual disability | | ISO | RGD:1318304 | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 | intellectual disability | | ISO | RGD:1318304 | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | | Potocki-Lupski syndrome | | ISO | RGD:1318304 | 8554872 | ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 | ClinVar | PMID:28837307 | Smith-Magenis syndrome | | ISO | RGD:1318304 | 8554872 | ClinVar Annotator: match by term: Smith-Magenis syndrome | ClinVar | PMID:21857958, PMID:25741868 | Smith-Magenis syndrome | | ISO | RGD:1318304 | 8554872 | ClinVar Annotator: match by OMIM:182290 | ClinVar | PMID:25741868 | Smith-Magenis syndrome | | ISO | RGD:1318304 | 8554872 | ClinVar Annotator: match by term: Smith-Magenis syndrome | ClinVar | PMID:25741868, PMID:26467025 | Smith-Magenis syndrome | | ISO | RGD:1318304 | 8554872 | ClinVar Annotator: match by OMIM:182290 | ClinVar | PMID:25087610 | Smith-Magenis syndrome | | ISO | RGD:1318304 | 8554872 | ClinVar Annotator: match by OMIM:182290 | ClinVar | PMID:15788730, PMID:22578325 | Smith-Magenis syndrome | | ISO | RGD:1318304 | 8554872 | ClinVar Annotator: match by OMIM:182290 | ClinVar | PMID:15788730 | Smith-Magenis syndrome | | ISO | RGD:1318304 | 8554872 | ClinVar Annotator: match by OMIM:182290 | ClinVar | | Smith-Magenis syndrome | | ISO | RGD:1318304 | 8554872 | ClinVar Annotator: match by OMIM:182290 | ClinVar | PMID:12652298 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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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
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
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Gene-Chemical Interaction Annotations
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Gene Ontology Annotations
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Biological Process
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Phenotype Annotations
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Mammalian Phenotype
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References
References - curated
| 1. | Kawai J, etal., Nature. 2001 Feb 8;409(6821):685-90. |
| 2. | MGD data from the GO Consortium |
| 3. | MGD IEA |
| 4. | Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73. |
| 5. | OMIM Disease Annotation Pipeline |
| 6. | RGD automated import pipeline |
| 7. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 8. | RGD automated import pipeline for gene-chemical interactions |
| 9. | Slager RE, etal., Nat Genet. 2003 Apr;33(4):466-8. Epub 2003 Mar 24. |
Additional References at PubMed
| PMID:7476016 | PMID:8889548 | PMID:10349636 | PMID:11042159 | PMID:11076861 | PMID:11404004 | PMID:12477932 | PMID:12837267 | PMID:12904583 | PMID:14610273 | PMID:14621295 | PMID:15565467 |
| PMID:15746153 | PMID:16141072 | PMID:16141073 | PMID:16501100 | PMID:16602821 | PMID:17024248 | PMID:17273973 | PMID:17517686 | PMID:18285828 | PMID:18287559 | PMID:18799693 | PMID:19116176 |
| PMID:19319603 | PMID:20663924 | PMID:21124890 | PMID:21267068 | PMID:21873635 | PMID:22578325 | PMID:22654670 | PMID:23345394 | PMID:23703963 | PMID:24218365 | PMID:24952961 | PMID:25127133 |
| PMID:25752576 | PMID:25921334 | PMID:26764384 | PMID:27693255 | PMID:28548639 | PMID:28671696 | PMID:30275311 | PMID:31777937 | PMID:32027825 |
Genomics
