Disease: Dysmorphic facies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PRSS12 P56730 serine protease 12 Enzyme 8.4E-29 0.682 0.308
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
LAMB2 P55268 laminin subunit beta 2 Enzyme modulator 2.5E-19 0.601 0.654
C2CD3 Q4AC94 C2 domain containing 3 centriole elongation regulator 4.4E-19 0.636 0.538
MANBA O00462 mannosidase beta Enzyme 1.3E-18 0.736 0.462
HOOK2 Q96ED9 hook microtubule tethering protein 2 Enzyme modulator 4.6E-18 0.659 0.654
WWOX Q9NZC7 WW domain containing oxidoreductase Enzyme 1.2E-15 0.453 0.808
PRMT7 Q9NVM4 protein arginine methyltransferase 7 Epigenetic regulator 5.5E-15 0.674 0.538
KDM5B Q9UGL1 lysine demethylase 5B Epigenetic regulator 7.9E-15 0.532 0.731
MEFV O15553 MEFV innate immuity regulator, pyrin 1.0E-14 0.440 0.885
TRAPPC9 Q96Q05 trafficking protein particle complex 9 2.3E-14 0.603 0.577
COLQ Q9Y215 collagen like tail subunit of asymmetric acetylcholinesterase 7.9E-14 0.628 0.654
HIBCH Q6NVY1 3-hydroxyisobutyryl-CoA hydrolase Enzyme 2.6E-13 0.700 0.500
SMG9 Q9H0W8 SMG9 nonsense mediated mRNA decay factor 3.5E-13 0.729 0.346
ADSL P30566 adenylosuccinate lyase Enzyme 8.9E-12 0.631 0.654
EXOSC9 Q06265 exosome component 9 Enzyme 1.8E-11 0.705 0.423
LMAN2L Q9H0V9 lectin, mannose binding 2 like Transporter 2.0E-11 0.641 0.385
SLC17A5 Q9NRA2 solute carrier family 17 member 5 Transporter 6.9E-10 0.491 0.808
ALDH6A1 Q02252 aldehyde dehydrogenase 6 family member A1 Enzyme 7.6E-10 0.716 0.462
CNTNAP2 Q9UHC6 contactin associated protein 2 2.9E-09 0.530 0.846
CHRND Q07001 cholinergic receptor nicotinic delta subunit Ion channel 5.4E-09 0.641 0.462
TDP2 O95551 tyrosyl-DNA phosphodiesterase 2 1.1E-08 0.628 0.462
MAN1B1 Q9UKM7 mannosidase alpha class 1B member 1 Chaperone 1.2E-08 0.606 0.577
MED23 Q9ULK4 mediator complex subunit 23 3.1E-08 0.612 0.654