Disease: Absent reflex
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AIFM1 O95831 apoptosis inducing factor mitochondria associated 1 Enzyme 1.00 0.527 0.769
APTX Q7Z2E3 aprataxin Nucleic acid binding 4.0E-10 0.590 0.500
ASAH1 Q13510 N-acylsphingosine amidohydrolase 1 Enzyme 1.3E-12 0.526 0.808
B3GALNT2 Q8NCR0 beta-1,3-N-acetylgalactosaminyltransferase 2 Enzyme 2.8E-07 0.578 0.577
CFL2 Q9Y281 cofilin 2 6.4E-05 0.659 0.500
CHMP2B Q9UQN3 charged multivesicular body protein 2B 4.6E-06 0.543 0.731
COL6A1 P12109 collagen type VI alpha 1 chain Receptor 1.00 0.587 0.731
DNAJB2 P25686 DnaJ heat shock protein family (Hsp40) member B2 5.4E-05 0.743 0.192
DNM1L O00429 dynamin 1 like Enzyme modulator 5.7E-04 0.475 0.808
ENTPD1 P49961 ectonucleoside triphosphate diphosphohydrolase 1 Enzyme 8.1E-03 0.499 0.769
FIG4 Q92562 FIG4 phosphoinositide 5-phosphatase 2.3E-34 0.551 0.731
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731
FKTN O75072 fukutin 8.7E-07 0.511 0.692
GDAP1 Q8TB36 ganglioside induced differentiation associated protein 1 3.2E-08 0.612 0.538
GJB1 P08034 gap junction protein beta 1 Cell-cell junction 0.85 0.514 0.731
GMPPB Q9Y5P6 GDP-mannose pyrophosphorylase B 8.4E-07 0.578 0.538
IGHMBP2 P38935 immunoglobulin mu DNA binding protein 2 3.0E-16 0.636 0.615
KBTBD13 C9JR72 kelch repeat and BTB domain containing 13 2.3E-10 0.729 0.385
LAMA2 P24043 laminin subunit alpha 2 Enzyme modulator 2.4E-47 0.553 0.692
LARGE1 O95461 LARGE xylosyl- and glucuronyltransferase 1 Enzyme 0.99 0.526 0.654
LMNA P02545 lamin A/C 1.00 0.384 0.885
LYST Q99698 lysosomal trafficking regulator 1.5E-02 0.621 0.692
MFN2 O95140 mitofusin 2 Enzyme 0.99 0.471 0.846
MPV17 P39210 mitochondrial inner membrane protein MPV17 Receptor 9.7E-11 0.595 0.577
MPZ P25189 myelin protein zero 0.27 0.503 0.846