Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
FRAXA fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation) 0.641 0.462
ATP6 P00846 ATP synthase F0 subunit 6 Transporter 0.541 0.731
COX2 P00403 cytochrome c oxidase subunit II Enzyme 0.352 0.962
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
NLRP2 Q9NX02 NLR family pyrin domain containing 2 1.4E-38 0.515 0.731
SAMD9 Q5K651 sterile alpha motif domain containing 9 1.1E-33 0.606 0.808
BRCA1 P38398 BRCA1 DNA repair associated Enzyme 9.2E-29 0.367 0.923
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
IFT140 Q96RY7 intraflagellar transport 140 Cellular structure 9.9E-24 0.572 0.692
SACS Q9NZJ4 sacsin molecular chaperone 1.1E-23 0.606 0.654
POLR3A O14802 RNA polymerase III subunit A Enzyme 1.3E-23 0.538 0.769
POLR3B Q9NW08 RNA polymerase III subunit B Enzyme 1.7E-23 0.628 0.654
PAH P00439 phenylalanine hydroxylase 6.4E-23 0.516 0.769
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
TPO P07202 thyroid peroxidase Enzyme 1.8E-21 0.455 0.846
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
SNX14 Q9Y5W7 sorting nexin 14 Enzyme modulator 6.1E-17 0.659 0.423
EGF P01133 epidermal growth factor 8.5E-17 0.357 0.923
NBN O60934 nibrin Nucleic acid binding 2.2E-16 0.467 0.808
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
WWOX Q9NZC7 WW domain containing oxidoreductase Enzyme 1.2E-15 0.453 0.808
CAMKMT Q7Z624 calmodulin-lysine N-methyltransferase 1.4E-15 0.510 0.808
CWF19L1 Q69YN2 CWF19 like cell cycle control factor 1 1.4E-15 0.691 0.346
GALC P54803 galactosylceramidase 5.2E-15 0.604 0.615
PNKP Q96T60 polynucleotide kinase 3'-phosphatase 3.7E-14 0.553 0.692