Disease: Short stature
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
RECQL4 O94761 RecQ like helicase 4 Enzyme 3.3E-35 0.496 0.808
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808
POLR3A O14802 RNA polymerase III subunit A Enzyme 1.3E-23 0.538 0.769
ERCC6 P0DP91 Q03468 ERCC excision repair 6, chromatin remodeling factor 5.2E-22 0.507 0.808
MYH3 P11055 myosin heavy chain 3 6.7E-21 0.563 0.654
ERCC2 P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 7.1E-20 0.420 0.846
HSPG2 P98160 heparan sulfate proteoglycan 2 Enzyme modulator 1.0E-19 0.438 0.885
DNA2 P51530 DNA replication helicase/nuclease 2 1.3E-18 0.626 0.731
ITGA7 Q13683 integrin subunit alpha 7 4.3E-17 0.588 0.654
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 2.2E-16 0.457 0.808
MYH7 P12883 myosin heavy chain 7 4.2E-16 0.516 0.692
ZMPSTE24 O75844 zinc metallopeptidase STE24 Enzyme 8.9E-16 0.517 0.731
ELN P15502 elastin 2.1E-14 0.415 0.885
TCTN3 Q6NUS6 tectonic family member 3 4.2E-12 0.566 0.615
RBM28 Q9NW13 RNA binding motif protein 28 6.2E-12 0.682 0.423
ATP6V0A2 Q9Y487 ATPase H+ transporting V0 subunit a2 Transporter 2.6E-11 0.570 0.692
PAPSS2 O95340 3'-phosphoadenosine 5'-phosphosulfate synthase 2 Enzyme 2.0E-10 0.682 0.462
SELENON Q9NZV5 selenoprotein N 9.8E-10 0.575 0.692
HACD1 B0YJ81 3-hydroxyacyl-CoA dehydratase 1 1.3E-09 0.539 0.846
NUP107 P57740 nucleoporin 107 Transporter 2.6E-09 0.595 0.500
MAP3K20 Q9NYL2 mitogen-activated protein kinase kinase kinase 20 Kinase 8.4E-09 0.564 0.769
MYL2 P10916 myosin light chain 2 Calcium-binding protein 2.7E-08 0.601 0.615
GUSB P08236 glucuronidase beta 4.0E-08 0.530 0.846
RAB3GAP1 Q15042 RAB3 GTPase activating protein catalytic subunit 1 1.5E-07 0.566 0.692
ERCC1 P07992 ERCC excision repair 1, endonuclease non-catalytic subunit Enzyme 1.6E-07 0.445 0.846