Disease: Motor delay
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
BIN1 O00499 bridging integrator 1 0.78 0.550 0.692
BMPR1A P36894 bone morphogenetic protein receptor type 1A Kinase 0.90 0.522 0.731
CHRNA1 P02708 cholinergic receptor nicotinic alpha 1 subunit Ion channel 2.1E-08 0.615 0.577
CHST3 Q7LGC8 carbohydrate sulfotransferase 3 7.2E-03 0.517 0.846
COL12A1 Q99715 collagen type XII alpha 1 chain Receptor 0.97 0.615 0.692
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
COL6A1 P12109 collagen type VI alpha 1 chain Receptor 1.00 0.587 0.731
COL6A2 P12110 collagen type VI alpha 2 chain Receptor 6.5E-08 0.599 0.692
COL6A3 P12111 collagen type VI alpha 3 chain Receptor 1.8E-20 0.563 0.769
COQ7 Q99807 coenzyme Q7, hydroxylase 3.8E-06 0.736 0.462
DARS2 Q6PI48 aspartyl-tRNA synthetase 2, mitochondrial Enzyme 9.8E-13 0.638 0.577
DMD P11532 dystrophin 1.00 0.423 0.923
DNM2 P50570 dynamin 2 Enzyme modulator 1.00 0.542 0.769
FA2H Q7L5A8 fatty acid 2-hydroxylase Enzyme 0.15 0.573 0.654
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
FKTN O75072 fukutin 8.7E-07 0.511 0.692
GBA P04062 glucosylceramidase beta 1.4E-06 0.500 0.808
GDAP1 Q8TB36 ganglioside induced differentiation associated protein 1 3.2E-08 0.612 0.538
IARS2 Q9NSE4 isoleucyl-tRNA synthetase 2, mitochondrial Enzyme 8.1E-02 0.590 0.654
KLC2 Q9H0B6 kinesin light chain 2 0.98 0.736 0.346
KLHL40 Q2TBA0 kelch like family member 40 3.5E-06 0.722 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
LIAS O43766 lipoic acid synthetase 2.3E-05 0.695 0.538