Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Welander Distal Myopathy, Swedish Type | | ISO | RGD:1313955 | 8554872 | ClinVar Annotator: match by term: Welander distal myopathy | ClinVar | PMID:28492532 | Welander Distal Myopathy, Swedish Type | | ISO | RGD:1313955 | 8554872 | ClinVar Annotator: match by term: Welander distal myopathy | ClinVar | PMID:10482271 more ... | Welander Distal Myopathy, Swedish Type | | ISO | RGD:1313955 | 8554872 | ClinVar Annotator: match by term: Welander distal myopathy | ClinVar | PMID:28492532 more ... | Welander Distal Myopathy, Swedish Type | | ISO | RGD:1313955 | 8554872 | ClinVar Annotator: match by term: Welander distal myopathy | ClinVar | PMID:26467025, PMID:28492532 | Welander Distal Myopathy, Swedish Type | | ISO | RGD:1313955 | 8554872 | ClinVar Annotator: match by term: Welander distal myopathy | ClinVar | PMID:25741868, PMID:28492532 | Welander Distal Myopathy, Swedish Type | | ISO | RGD:1313955 | 8554872 | ClinVar Annotator: match by term: Welander distal myopathy | ClinVar | PMID:25741868 more ... | Welander Distal Myopathy, Swedish Type | | ISO | RGD:1313955 | 8554872 | ClinVar Annotator: match by term: Welander distal myopathy | ClinVar | PMID:28492532, PMID:29886022 | Welander Distal Myopathy, Swedish Type | | ISO | RGD:1313955 | 8554872 | ClinVar Annotator: match by term: Welander distal myopathy | ClinVar | PMID:23348830 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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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
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References
References - curated
| 1. | Cok SJ, etal., J Biol Chem. 2003 Sep 19;278(38):36157-62. Epub 2003 Jul 9. |
| 2. | GOA data from the GO Consortium |
| 3. | Kayali F, etal., Neuroscience. 2005;134(4):1223-45. |
| 4. | MGD data from the GO Consortium |
| 5. | OMIM Disease Annotation Pipeline |
| 6. | RGD automated data pipeline |
| 7. | RGD automated import pipeline for gene-chemical interactions |
| 8. | Zou T, etal., Am J Physiol Cell Physiol. 2012 Jul 1;303(1):C102-11. doi: 10.1152/ajpcell.00009.2012. Epub 2012 May 2. |
Additional References at PubMed
| PMID:10921895 | PMID:11106748 | PMID:12388085 | PMID:12477932 | PMID:16278295 | PMID:17488725 | PMID:21933836 | PMID:21984414 | PMID:22022532 | PMID:22658674 | PMID:22681889 | PMID:24965446 |
| PMID:27430620 |
Genomics
