Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
SOX2-OT SOX2 overlapping transcript 0.597 0.615
TTN-AS1 TTN antisense RNA 1 0.599 0.577
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885
ASPM Q8IZT6 abnormal spindle microtubule assembly 3.4E-49 0.526 0.769
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
RECQL4 O94761 RecQ like helicase 4 Enzyme 3.3E-35 0.496 0.808
SAMD9 Q5K651 sterile alpha motif domain containing 9 1.1E-33 0.606 0.808
CHEK2 O96017 checkpoint kinase 2 Kinase 1.2E-24 0.460 0.808
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 2.2E-16 0.457 0.808
PPM1D O15297 protein phosphatase, Mg2+/Mn2+ dependent 1D Enzyme 2.2E-11 0.513 0.808
HHAT Q5VTY9 hedgehog acyltransferase Enzyme 3.2E-08 0.608 0.577
RAB3GAP1 Q15042 RAB3 GTPase activating protein catalytic subunit 1 1.5E-07 0.566 0.692
NTRK1 P04629 neurotrophic receptor tyrosine kinase 1 Kinase 2.0E-06 0.422 0.808
NDUFAF2 Q8N183 NADH:ubiquinone oxidoreductase complex assembly factor 2 2.1E-06 0.641 0.577
FKBP10 Q96AY3 FKBP prolyl isomerase 10 2.4E-06 0.606 0.538
POLD1 P28340 DNA polymerase delta 1, catalytic subunit 2.4E-06 0.507 0.769
PLCB4 Q15147 phospholipase C beta 4 Enzyme 3.0E-06 0.610 0.731
DVL1 O14640 dishevelled segment polarity protein 1 Signaling 3.7E-06 0.531 0.769
PKD2 Q13563 polycystin 2, transient receptor potential cation channel Ion channel 1.7E-04 0.552 0.731
PYCR1 P32322 pyrroline-5-carboxylate reductase 1 2.0E-04 0.570 0.654
NRP2 O60462 neuropilin 2 8.1E-04 0.539 0.615
ECHS1 P30084 enoyl-CoA hydratase, short chain 1 Enzyme 8.8E-04 0.601 0.654
VRK1 Q99986 VRK serine/threonine kinase 1 Kinase 2.1E-03 0.621 0.615
RAB23 Q9ULC3 RAB23, member RAS oncogene family 5.6E-03 0.541 0.654