Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
LRP5 O75197 LDL receptor related protein 5 0.51 0.485 0.846
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
PPP3CA Q08209 protein phosphatase 3 catalytic subunit alpha 1.00 0.568 0.769
SKI P12755 SKI proto-oncogene 1.00 0.503 0.808
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
NRP2 O60462 neuropilin 2 8.1E-04 0.539 0.615
NRXN1 P58400 Q9ULB1 neurexin 1 1.00 0.581 0.692
PUF60 Q9UHX1 poly(U) binding splicing factor 60 1.00 0.536 0.769
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
SETBP1 Q9Y6X0 SET binding protein 1 1.00 0.503 0.808
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
WAC Q9BTA9 WW domain containing adaptor with coiled-coil 1.00 0.686 0.615
SETD5 Q9C0A6 SET domain containing 5 1.00 0.560 0.731
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
NDUFAF2 Q8N183 NADH:ubiquinone oxidoreductase complex assembly factor 2 2.1E-06 0.641 0.577
ASPM Q8IZT6 abnormal spindle microtubule assembly 3.4E-49 0.526 0.769
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923