Disease ID | Disease name | Source of annotation with SYNE2 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS310300 | EMERY-DREIFUSS MUSCULAR DYSTROPHY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 6 | SYNE1, FHL1, TMEM43, EMD, SYNE2, LMNA |
Download the gene annotation in CSV format
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Cell Cycle | R-HSA-1640170 | 3.89 |
Meiosis | R-HSA-1500620 | 6.59 |
Meiotic synapsis | R-HSA-1221632 | 7.18 |
GO term | GO ID | GO IC |
---|---|---|
cytoskeletal protein binding | GO:0008092 | 3.02 |
actin filament binding | GO:0051015 | 4.93 |
actin binding | GO:0003779 | 3.74 |
macromolecular complex binding | GO:0044877 | 2.61 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
protein complex binding | GO:0032403 | 3.09 |