Disease: Muscle Hypertonia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
BMPR1A P36894 bone morphogenetic protein receptor type 1A Kinase 0.90 0.522 0.731
BRAT1 Q6PJG6 BRCA1 associated ATM activator 1 7.4E-13 0.695 0.231
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
EPCAM P16422 epithelial cell adhesion molecule 1.3E-07 0.451 0.885
ERCC2 P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 7.1E-20 0.420 0.846
FAN1 Q9Y2M0 FANCD2 and FANCI associated nuclease 1 1.7E-25 0.610 0.577
FKTN O75072 fukutin 8.7E-07 0.511 0.692
GBA P04062 glucosylceramidase beta 1.4E-06 0.500 0.808
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
KMT2B Q9UMN6 lysine methyltransferase 2B 1.00 0.529 0.808
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
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
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654
MFN2 O95140 mitofusin 2 Enzyme 0.99 0.471 0.846
MLH1 P40692 mutL homolog 1 Nucleic acid binding 3.4E-05 0.399 0.808
MLH3 Q9UHC1 mutL homolog 3 Nucleic acid binding 4.9E-08 0.582 0.538
MSH2 P43246 mutS homolog 2 Nucleic acid binding 0.90 0.406 0.808
MSH6 P52701 mutS homolog 6 Nucleic acid binding 3.7E-05 0.462 0.731
NCAPG2 Q86XI2 non-SMC condensin II complex subunit G2 0.98 0.603 0.731
OTUD6B Q8N6M0 OTU deubiquitinase 6B Enzyme 1.3E-07 0.659 0.538
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923