Disease: Neonatal Hypotonia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABCC8 Q09428 ATP binding cassette subfamily C member 8 Transporter 8.0E-24 0.474 0.846
ACTA1 P68133 actin alpha 1, skeletal muscle Cellular structure 1.1E-06 0.540 0.769
ATP2B3 Q16720 ATPase plasma membrane Ca2+ transporting 3 Transporter 1.00 0.631 0.692
ATXN7 O15265 ataxin 7 0.96 0.581 0.654
BIN1 O00499 bridging integrator 1 0.78 0.550 0.692
CHKB Q9Y259 choline kinase beta Kinase 3.8E-07 0.663 0.423
CHRNA1 P02708 cholinergic receptor nicotinic alpha 1 subunit Ion channel 2.1E-08 0.615 0.577
CHRNE Q04844 cholinergic receptor nicotinic epsilon subunit Ion channel 4.7E-09 0.636 0.577
CHST14 Q8NCH0 carbohydrate sulfotransferase 14 Enzyme 0.45 0.638 0.654
COL12A1 Q99715 collagen type XII alpha 1 chain Receptor 0.97 0.615 0.692
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
CRPPA A4D126 CDP-L-ribitol pyrophosphorylase A 2.5E-04 0.566 0.654
EARS2 Q5JPH6 glutamyl-tRNA synthetase 2, mitochondrial Enzyme 1.1E-08 0.666 0.538
EGR2 P11161 early growth response 2 Nucleic acid binding 0.50 0.547 0.769
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731
FKTN O75072 fukutin 8.7E-07 0.511 0.692
FLNA P21333 filamin A 1.00 0.419 0.846
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
HADH Q16836 hydroxyacyl-CoA dehydrogenase 6.6E-05 0.650 0.538
HERC2 O95714 HECT and RLD domain containing E3 ubiquitin protein ligase 2 1.00 0.568 0.692
IPW imprinted in Prader-Willi syndrome 0.682 0.423
ITGA7 Q13683 integrin subunit alpha 7 4.3E-17 0.588 0.654
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731