Gene | Uniprot | Gene Full Name | Protein Class | pLI | DSI g | DPI g | Num. diseases | Num. SNPs |
---|---|---|---|---|---|---|---|---|
LMNA | P02545 | lamin A/C | 1.00 | 0.384 | 0.885 | 46 | 196 | |
MFN2 | O95140 | mitofusin 2 | Enzyme | 0.99 | 0.471 | 0.846 | 22 | 53 |
HNRNPUL2-BSCL2 | HNRNPUL2-BSCL2 readthrough (NMD candidate) | 0.780 | 0.192 | 10 | 34 | |||
BSCL2 | Q96G97 | BSCL2 lipid droplet biogenesis associated, seipin | 1.1E-09 | 0.545 | 0.692 | 10 | 34 | |
AARS1 | P49588 | alanyl-tRNA synthetase 1 | Nucleic acid binding | 1.8E-08 | 0.647 | 0.462 | 4 | 7 |
GARS1 | P41250 | glycyl-tRNA synthetase 1 | Enzyme | 0.31 | 0.623 | 0.500 | 3 | 14 |