Disease: Pena-Shokeir syndrome type I
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTA1 P68133 actin alpha 1, skeletal muscle Cellular structure 1.1E-06 0.540 0.769
AGRN O00468 agrin 5.5E-07 0.626 0.538
ASCC1 Q8N9N2 activating signal cointegrator 1 complex subunit 1 2.6E-14 0.495 0.846
CHRNA1 P02708 cholinergic receptor nicotinic alpha 1 subunit Ion channel 2.1E-08 0.615 0.577
CHRNG P07510 cholinergic receptor nicotinic gamma subunit Ion channel 3.3E-19 0.573 0.692
CNTN1 Q12860 contactin 1 0.15 0.599 0.577
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577
DOK7 Q18PE1 docking protein 7 1.0E-04 0.615 0.615
DPAGT1 Q9H3H5 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 Enzyme 1.1E-05 0.621 0.538
GBA P04062 glucosylceramidase beta 1.4E-06 0.500 0.808
GBE1 Q04446 1,4-alpha-glucan branching enzyme 1 Enzyme 1.1E-12 0.612 0.654
GLE1 Q53GS7 GLE1 RNA export mediator Transporter 2.1E-10 0.628 0.577
KBTBD13 C9JR72 kelch repeat and BTB domain containing 13 2.3E-10 0.729 0.385
KIF14 Q15058 kinesin family member 14 Cellular structure 4.1E-05 0.578 0.654
KIF5C O60282 kinesin family member 5C Cellular structure 1.00 0.686 0.346
KLHL40 Q2TBA0 kelch like family member 40 3.5E-06 0.722 0.385
KLHL41 O60662 kelch like family member 41 1.1E-04 0.682 0.538
LGI4 Q8N135 leucine rich repeat LGI family member 4 7.2E-03 0.678 0.308
MUSK O15146 muscle associated receptor tyrosine kinase Kinase 4.2E-08 0.570 0.769
MYOD1 P15172 myogenic differentiation 1 Transcription factor 0.15 0.569 0.654
MYPN Q86TC9 myopalladin 2.6E-06 0.612 0.615
NEB P20929 nebulin 4.6E-41 0.608 0.692
NEK9 Q8TD19 NIMA related kinase 9 Kinase 8.2E-18 0.623 0.500
NUP88 Q99567 nucleoporin 88 Transporter 2.0E-08 0.659 0.577
PDHA1 P08559 pyruvate dehydrogenase E1 subunit alpha 1 0.99 0.581 0.538