Disease: Absent reflex
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
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
HADHA P40939 hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha Enzyme 4.4E-06 0.569 0.769
HADHB P55084 hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta Enzyme 1.5E-11 0.619 0.692
INPP5K Q9BT40 inositol polyphosphate-5-phosphatase K Enzyme 4.2E-05 0.587 0.654
KBTBD13 C9JR72 kelch repeat and BTB domain containing 13 2.3E-10 0.729 0.385
KLHL41 O60662 kelch like family member 41 1.1E-04 0.682 0.538
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
MCM3AP O60318 minichromosome maintenance complex component 3 associated protein 5.2E-09 0.647 0.654
MED25 Q71SY5 mediator complex subunit 25 Transcription factor 8.4E-07 0.582 0.654
MEGF10 Q96KG7 multiple EGF like domains 10 Extracellular structure 0.39 0.682 0.462
MPZ P25189 myelin protein zero 0.27 0.503 0.846
MTMR14 Q8NCE2 myotubularin related protein 14 1.4E-07 0.674 0.615
MYL1 P05976 myosin light chain 1 Calcium-binding protein 1.3E-04 0.839 0.346
MYO9A B2RTY4 myosin IXA 0.49 0.647 0.500
MYPN Q86TC9 myopalladin 2.6E-06 0.612 0.615
NEB P20929 nebulin 4.6E-41 0.608 0.692
NEFL P07196 neurofilament light 0.488 0.769
OPA1 O60313 OPA1 mitochondrial dynamin like GTPase Enzyme modulator 0.99 0.510 0.846
PIEZO2 Q9H5I5 piezo type mechanosensitive ion channel component 2 Ion channel 8.1E-07 0.529 0.769
PLEC Q15149 plectin Cellular structure 8.3E-12 0.523 0.808
PMP22 Q01453 peripheral myelin protein 22 Cellular structure 0.91 0.471 0.885
PNKP Q96T60 polynucleotide kinase 3'-phosphatase 3.7E-14 0.553 0.692