Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | attention deficit hyperactivity disorder | | ISO | RGD:1346181 | 8554872 | ClinVar Annotator: match by term: Attention deficit hyperactivity disorder | ClinVar | PMID:28332277 | genetic disease | | ISO | RGD:1346181 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | microcephaly | | ISO | RGD:1346181 | 8554872 | ClinVar Annotator: match by term: Microcephaly | ClinVar | PMID:25741868, PMID:28492532 | Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy | | ISO | RGD:1346181 | 8554872 | ClinVar Annotator: match by term: Microcephaly more ... | ClinVar | PMID:24656866 more ... | Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy | | ISO | RGD:1346181 | 8554872 | ClinVar Annotator: match by term: Microcephaly more ... | ClinVar | | Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy | | ISO | RGD:1346181 | 8554872 | ClinVar Annotator: match by term: Microcephaly more ... | ClinVar | PMID:25741868 | Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy | | ISO | RGD:1346181 | 8554872 | ClinVar Annotator: match by term: Microcephaly more ... | ClinVar | PMID:25432320, PMID:28492532 | Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy | | ISO | RGD:1346181 | 8554872 | ClinVar Annotator: match by term: Microcephaly more ... | ClinVar | PMID:25471517, PMID:28492532 | Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy | | ISO | RGD:1346181 | 8554872 | ClinVar Annotator: match by term: Microcephaly more ... | ClinVar | PMID:24656866 more ... | Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy | | ISO | RGD:1346181 | 8554872 | ClinVar Annotator: match by term: Microcephaly more ... | ClinVar | PMID:24656866 more ... | Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy | | ISO | RGD:1346181 | 8554872 | ClinVar Annotator: match by term: Microcephaly more ... | ClinVar | PMID:25741868, PMID:28492532 | Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy | | ISO | RGD:1346181 | 8554872 | ClinVar Annotator: match by term: Microcephaly more ... | ClinVar | PMID:26467025, PMID:28492532 | Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy | | ISO | RGD:1346181 | 8554872 | ClinVar Annotator: match by term: Microcephaly more ... | ClinVar | PMID:28492532 | Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy | | ISO | RGD:1346181 | 8554872 | ClinVar Annotator: match by term: Microcephaly more ... | ClinVar | PMID:24656866 | Sleep Initiation and Maintenance Disorders | | ISO | RGD:1346181 | 8554872 | ClinVar Annotator: match by term: Insomnia | ClinVar | PMID:25741868 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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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
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Molecular Function
Molecular Pathway Annotations Click to see Annotation Detail View
Imported Annotations - SMPDB
Disease Annotations
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Gene Ontology Annotations
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Biological Process
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Molecular Function
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Molecular Pathway Annotations
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References
References - curated
| 1. | Kawai J, etal., Nature. 2001 Feb 8;409(6821):685-90. |
| 2. | Ko MS, etal., Development 2000 Apr;127(8):1737-49. |
| 3. | MGD data from the GO Consortium |
| 4. | Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73. |
| 5. | Park BS, etal., J Mol Histol. 2015 Feb;46(1):115-22. doi: 10.1007/s10735-014-9601-4. Epub 2014 Dec 3. |
| 6. | Pipeline to import SMPDB annotations from SMPDB into RGD |
| 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 |
Additional References at PubMed
| PMID:8889548 | PMID:10349636 | PMID:10922068 | PMID:11042159 | PMID:11076861 | PMID:12060739 | PMID:12477932 | PMID:14610273 | PMID:14681479 | PMID:15782199 | PMID:16141072 | PMID:16141073 |
| PMID:18799693 | PMID:21460039 | PMID:21677750 | PMID:21873635 | PMID:24656866 |
Genomics
