Disease: Difficulty walking up stairs
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
ALG14 Q96F25 ALG14 UDP-N-acetylglucosaminyltransferase subunit 9.4E-04 0.722 0.308
ALG2 Q9H553 ALG2 alpha-1,3/1,6-mannosyltransferase 8.0E-05 0.670 0.423
BIN1 O00499 bridging integrator 1 0.78 0.550 0.692
COL6A1 P12109 collagen type VI alpha 1 chain Receptor 1.00 0.587 0.731
DAG1 Q14118 dystroglycan 1 Receptor 0.98 0.498 0.808
DPAGT1 Q9H3H5 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 Enzyme 1.1E-05 0.621 0.538
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731
GFPT1 Q06210 glutamine--fructose-6-phosphate transaminase 1 Enzyme 0.90 0.612 0.654
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
HSPB8 Q9UJY1 heat shock protein family B (small) member 8 4.3E-02 0.570 0.577
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
MFN2 O95140 mitofusin 2 Enzyme 0.99 0.471 0.846
MYOT Q9UBF9 myotilin 3.4E-08 0.695 0.385
MYPN Q86TC9 myopalladin 2.6E-06 0.612 0.615
PLEC Q15149 plectin Cellular structure 8.3E-12 0.523 0.808
PLEKHG5 O94827 pleckstrin homology and RhoGEF domain containing G5 3.4E-06 0.674 0.385
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
POMGNT1 Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 1.9E-20 0.537 0.538
POMK Q9H5K3 protein O-mannose kinase Kinase 1.9E-08 0.590 0.500
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