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
AGRN O00468 agrin 5.5E-07 0.626 0.538
AIMP1 Q12904 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 Enzyme 3.0E-07 0.566 0.769
ATAD1 Q8NBU5 ATPase family AAA domain containing 1 1.3E-03 0.545 0.692
CHAT P28329 choline O-acetyltransferase Enzyme 5.6E-11 0.520 0.808
COL13A1 Q5TAT6 collagen type XIII alpha 1 chain 3.7E-14 0.608 0.654
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
ERCC1 P07992 ERCC excision repair 1, endonuclease non-catalytic subunit Enzyme 1.6E-07 0.445 0.846
ERCC2 P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 7.1E-20 0.420 0.846
ERCC6 P0DP91 Q03468 ERCC excision repair 6, chromatin remodeling factor 5.2E-22 0.507 0.808
FKBP10 Q96AY3 FKBP prolyl isomerase 10 2.4E-06 0.606 0.538
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
LMNA P02545 lamin A/C 1.00 0.384 0.885
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MYH3 P11055 myosin heavy chain 3 6.7E-21 0.563 0.654
MYO9A B2RTY4 myosin IXA 0.49 0.647 0.500
PIEZO2 Q9H5I5 piezo type mechanosensitive ion channel component 2 Ion channel 8.1E-07 0.529 0.769
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808
SETBP1 Q9Y6X0 SET binding protein 1 1.00 0.503 0.808
SLC18A3 Q16572 solute carrier family 18 member A3 Transporter 0.45 0.608 0.654
SLC25A1 P53007 solute carrier family 25 member 1 Transporter 5.9E-02 0.553 0.731
SLC5A7 Q9GZV3 solute carrier family 5 member 7 Transporter 1.5E-02 0.597 0.654
SNAP25 P60880 synaptosome associated protein 25 Transporter 0.99 0.489 0.808
STAC3 Q96MF2 SH3 and cysteine rich domain 3 1.7E-04 0.633 0.654