Disease: Arthrogryposis
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
BICD2 Q8TD16 BICD cargo adaptor 2 0.98 0.615 0.731
CHRNG P07510 cholinergic receptor nicotinic gamma subunit Ion channel 3.3E-19 0.573 0.692
ERCC1 P07992 ERCC excision repair 1, endonuclease non-catalytic subunit Enzyme 1.6E-07 0.445 0.846
ERCC2 P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 7.1E-20 0.420 0.846
ERCC5 P28715 ERCC excision repair 5, endonuclease 2.7E-13 0.499 0.731
ERCC6 P0DP91 Q03468 ERCC excision repair 6, chromatin remodeling factor 5.2E-22 0.507 0.808
FBN2 P35556 fibrillin 2 Calcium-binding protein 1.00 0.505 0.808
GLE1 Q53GS7 GLE1 RNA export mediator Transporter 2.1E-10 0.628 0.577
KIF14 Q15058 kinesin family member 14 Cellular structure 4.1E-05 0.578 0.654
LGI4 Q8N135 leucine rich repeat LGI family member 4 7.2E-03 0.678 0.308
LMNA P02545 lamin A/C 1.00 0.384 0.885
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654
MUSK O15146 muscle associated receptor tyrosine kinase Kinase 4.2E-08 0.570 0.769
MYBPC1 Q00872 myosin binding protein C1 4.8E-05 0.666 0.462
MYH3 P11055 myosin heavy chain 3 6.7E-21 0.563 0.654
NALCN Q8IZF0 sodium leak channel, non-selective Ion channel 8.5E-14 0.587 0.615
NUP88 Q99567 nucleoporin 88 Transporter 2.0E-08 0.659 0.577
PHGDH O43175 phosphoglycerate dehydrogenase Enzyme 1.3E-04 0.484 0.885
PRH1 P02810 proline rich protein HaeIII subfamily 1 7.2E-03 0.659 0.500
PRH2 P02810 proline rich protein HaeIII subfamily 2 1.2E-02 0.663 0.500
PSAT1 Q9Y617 phosphoserine aminotransferase 1 1.1E-08 0.478 0.846
TNNI2 P48788 troponin I2, fast skeletal type Cellular structure 0.14 0.631 0.423
TNNT3 P45378 troponin T3, fast skeletal type Cellular structure 2.1E-07 0.653 0.308
TPM2 P07951 tropomyosin 2 Cellular structure 2.4E-04 0.530 0.654
ZMPSTE24 O75844 zinc metallopeptidase STE24 Enzyme 8.9E-16 0.517 0.731