Disease: Arthrogryposis
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
ADGRG6 Q86SQ4 adhesion G protein-coupled receptor G6 G-protein coupled receptor 6.6E-05 0.666 0.385
ALG3 Q92685 ALG3 alpha-1,3- mannosyltransferase Enzyme 3.7E-10 0.644 0.500
ATAD1 Q8NBU5 ATPase family AAA domain containing 1 1.3E-03 0.545 0.692
BICD2 Q8TD16 BICD cargo adaptor 2 0.98 0.615 0.731
C12orf65 Q9H3J6 chromosome 12 open reading frame 65 Nucleic acid binding 0.21 0.678 0.346
CEP55 Q53EZ4 centrosomal protein 55 2.0E-12 0.534 0.731
CHRNG P07510 cholinergic receptor nicotinic gamma subunit Ion channel 3.3E-19 0.573 0.692
CHST14 Q8NCH0 carbohydrate sulfotransferase 14 Enzyme 0.45 0.638 0.654
COG8 Q96MW5 component of oligomeric golgi complex 8 3.0E-09 0.653 0.500
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
ERCC5 P28715 ERCC excision repair 5, endonuclease 2.7E-13 0.499 0.731
ERGIC1 Q969X5 endoplasmic reticulum-golgi intermediate compartment 1 0.65 0.700 0.423
FKBP10 Q96AY3 FKBP prolyl isomerase 10 2.4E-06 0.606 0.538
GLE1 Q53GS7 GLE1 RNA export mediator Transporter 2.1E-10 0.628 0.577
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
HSPG2 P98160 heparan sulfate proteoglycan 2 Enzyme modulator 1.0E-19 0.438 0.885
KAT6B Q8WYB5 lysine acetyltransferase 6B Enzyme 1.00 0.525 0.731
KIAA1109 Q2LD37 KIAA1109 3.3E-21 0.603 0.654
L1CAM P32004 L1 cell adhesion molecule 1.00 0.475 0.769
LGI4 Q8N135 leucine rich repeat LGI family member 4 7.2E-03 0.678 0.308
MUSK O15146 muscle associated receptor tyrosine kinase Kinase 4.2E-08 0.570 0.769
MYBPC1 Q00872 myosin binding protein C1 4.8E-05 0.666 0.462
MYH2 Q9UKX2 myosin heavy chain 2 3.7E-23 0.619 0.731
MYH3 P11055 myosin heavy chain 3 6.7E-21 0.563 0.654