Disease: Absent reflex
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
DNAJB2 P25686 DnaJ heat shock protein family (Hsp40) member B2 5.4E-05 0.743 0.192
KBTBD13 C9JR72 kelch repeat and BTB domain containing 13 2.3E-10 0.729 0.385
CFL2 Q9Y281 cofilin 2 6.4E-05 0.659 0.500
SBF1 O95248 SET binding factor 1 Enzyme 1.00 0.700 0.500
APTX Q7Z2E3 aprataxin Nucleic acid binding 4.0E-10 0.590 0.500
VAMP1 P23763 vesicle associated membrane protein 1 3.9E-03 0.628 0.538
GMPPB Q9Y5P6 GDP-mannose pyrophosphorylase B 8.4E-07 0.578 0.538
GDAP1 Q8TB36 ganglioside induced differentiation associated protein 1 3.2E-08 0.612 0.538
POMGNT1 Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 1.9E-20 0.537 0.538
SPG11 Q96JI7 SPG11 vesicle trafficking associated, spatacsin 1.6E-39 0.576 0.538
SYT2 Q8N9I0 synaptotagmin 2 Transporter 0.98 0.647 0.538
MPV17 P39210 mitochondrial inner membrane protein MPV17 Receptor 9.7E-11 0.595 0.577
TTPA P49638 alpha tocopherol transfer protein Transporter 1.4E-03 0.612 0.577
VPS13A Q96RL7 vacuolar protein sorting 13 homolog A 9.3E-22 0.650 0.577
B3GALNT2 Q8NCR0 beta-1,3-N-acetylgalactosaminyltransferase 2 Enzyme 2.8E-07 0.578 0.577
IGHMBP2 P38935 immunoglobulin mu DNA binding protein 2 3.0E-16 0.636 0.615
UBA1 P22314 ubiquitin like modifier activating enzyme 1 Enzyme 1.00 0.666 0.615
TFG Q92734 trafficking from ER to golgi regulator 0.14 0.595 0.615
POMT1 Q9Y6A1 protein O-mannosyltransferase 1 4.2E-17 0.525 0.615
POMT2 Q9UKY4 protein O-mannosyltransferase 2 9.4E-12 0.544 0.615
LARGE1 O95461 LARGE xylosyl- and glucuronyltransferase 1 Enzyme 0.99 0.526 0.654
LYST Q99698 lysosomal trafficking regulator 1.5E-02 0.621 0.692
FKTN O75072 fukutin 8.7E-07 0.511 0.692
LAMA2 P24043 laminin subunit alpha 2 Enzyme modulator 2.4E-47 0.553 0.692
TWNK Q96RR1 twinkle mtDNA helicase Enzyme 3.2E-03 0.516 0.692