Disease: Flexion contracture
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PEX7 O00628 peroxisomal biogenesis factor 7 8.2E-13 0.603 0.615
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
FKTN O75072 fukutin 8.7E-07 0.511 0.692
ZMPSTE24 O75844 zinc metallopeptidase STE24 Enzyme 8.9E-16 0.517 0.731
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
LMNA P02545 lamin A/C 1.00 0.384 0.885
TPM3 P06753 tropomyosin 3 Cellular structure 6.7E-03 0.490 0.808
TPM2 P07951 tropomyosin 2 Cellular structure 2.4E-04 0.530 0.654
GUSB P08236 glucuronidase beta 4.0E-08 0.530 0.846
MYH3 P11055 myosin heavy chain 3 6.7E-21 0.563 0.654
ELN P15502 elastin 2.1E-14 0.415 0.885
ERCC2 P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 7.1E-20 0.420 0.846
SON P18583 SON DNA binding protein 1.00 0.565 0.769
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808
VAMP1 P23763 vesicle associated membrane protein 1 3.9E-03 0.628 0.538
LAMA2 P24043 laminin subunit alpha 2 Enzyme modulator 2.4E-47 0.553 0.692
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
SLC1A2 P43004 solute carrier family 1 member 2 Transporter 0.71 0.511 0.731
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
SNAP25 P60880 synaptosome associated protein 25 Transporter 0.99 0.489 0.808
MRPS34 P82930 mitochondrial ribosomal protein S34 2.6E-03 0.722 0.346
NOTCH2 Q04721 notch receptor 2 1.00 0.441 0.808
AIMP2 Q13155 aminoacyl tRNA synthetase complex interacting multifunctional protein 2 8.0E-03 0.393 0.923
WDR45B Q5MNZ6 WD repeat domain 45B 0.16 0.760 0.269