GENE - TERM ANNOTATION REPORT
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction
is comprised of a complex set of reactions and/or regulatory events, possibly involving
additional chemicals and/or gene products.
Object Symbol | Qualifier | Evidence | With | Reference | Source | Notes | Original Reference(s) | Comp | | ISO | COMP (Homo sapiens) | 1600702 | RGD | pseudoachondroplasia, OMIM:177170, D472Y, C468Y, 1400-1402delTCA | | Comp | | ISO | COMP (Homo sapiens) | 1600705 | RGD | multiple epiphyseal dysplasia EDM1, OMIM:132400,D342Y | | Comp | | ISO | COMP (Homo sapiens) | 8554872 | ClinVar | ClinVar Annotator: match by term: Multiple epiphyseal dysplasia | PMID:11565064 PMID:12483304 PMID:14684695 PMID:15756302 PMID:17570134 PMID:21834907 PMID:21922596 PMID:21965141 PMID:23956175 PMID:24595329 PMID:25741868 PMID:28051032 PMID:28492532 PMID:32686688 PMID:9021009 PMID:9463320 | |
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