Disease: Multiple congenital anomalies
Source: INFERRED ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
DNAH5 Q8TE73 dynein axonemal heavy chain 5 Enzyme 4.9E-64 0.590 0.692
ASPM Q8IZT6 abnormal spindle microtubule assembly 3.4E-49 0.526 0.769
NEB P20929 nebulin 4.6E-41 0.608 0.692
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
CPLANE1 Q9H799 ciliogenesis and planar polarity effector 1 5.9E-36 0.575 0.692
RECQL4 O94761 RecQ like helicase 4 Enzyme 3.3E-35 0.496 0.808
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
MAN2B1 O00754 mannosidase alpha class 2B member 1 4.8E-22 0.674 0.462
CHRNG P07510 cholinergic receptor nicotinic gamma subunit Ion channel 3.3E-19 0.573 0.692
GNPTAB Q3T906 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 7.7E-19 0.592 0.731
GAA P10253 glucosidase alpha, acid Enzyme 2.8E-18 0.631 0.577
AARS2 Q5JTZ9 alanyl-tRNA synthetase 2, mitochondrial Nucleic acid binding 5.0E-17 0.644 0.500
TRMU O75648 tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase 1.5E-16 0.716 0.385
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 2.2E-16 0.457 0.808
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
ECEL1 O95672 endothelin converting enzyme like 1 Enzyme 4.8E-13 0.638 0.308
PPM1D O15297 protein phosphatase, Mg2+/Mn2+ dependent 1D Enzyme 2.2E-11 0.513 0.808
GLE1 Q53GS7 GLE1 RNA export mediator Transporter 2.1E-10 0.628 0.577
MTIF2 P46199 mitochondrial translational initiation factor 2 Enzyme 3.7E-10 1.000
GUCY2D Q02846 guanylate cyclase 2D, retinal Kinase 6.5E-10 0.570 0.769
TMCO1 Q9UM00 transmembrane and coiled-coil domains 1 9.4E-10 0.588 0.654
ATP6V1B1 P15313 ATPase H+ transporting V1 subunit B1 Transporter 2.4E-09 0.695 0.346
COQ4 Q9Y3A0 coenzyme Q4 3.4E-09 0.780 0.269