Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABCA5 Q8WWZ7 ATP binding cassette subfamily A member 5 Transporter 4.8E-27 0.736 0.423
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
CCBE1 Q6UXH8 collagen and calcium binding EGF domains 1 Calcium-binding protein 1.5E-07 0.585 0.769
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
FLNA P21333 filamin A 1.00 0.419 0.846
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
KCNH1 O95259 potassium voltage-gated channel subfamily H member 1 Ion channel 0.55 0.542 0.731
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
LMNA P02545 lamin A/C 1.00 0.384 0.885
MMP2 P08253 matrix metallopeptidase 2 Enzyme 0.84 0.333 0.923
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808
NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577
POLR3A O14802 RNA polymerase III subunit A Enzyme 1.3E-23 0.538 0.769
PRKAR1A P10644 protein kinase cAMP-dependent type I regulatory subunit alpha 1.00 0.401 0.846
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
SMC3 Q9UQE7 structural maintenance of chromosomes 3 1.00 0.535 0.846
UBA5 Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 2.5E-04 0.582 0.731