Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
JAZF1 Q86VZ6 JAZF zinc finger 1 0.90 0.582 0.654 49 45
RAD51B O15315 RAD51 paralog B 2.1E-15 0.556 0.769 46 41
ZMIZ1 Q9ULJ6 zinc finger MIZ-type containing 1 1.00 0.588 0.615 40 33
TMEM258 P61165 transmembrane protein 258 1.9E-03 0.644 0.654 40 13
CDKAL1 Q5VV42 CDK5 regulatory subunit associated protein 1 like 1 1.6E-02 0.617 0.615 33 44
RALY Q9UKM9 RALY heterogeneous nuclear ribonucleoprotein 0.14 0.656 0.385 31 7
PIGU Q9H490 phosphatidylinositol glycan anchor biosynthesis class U 1.9E-05 0.670 0.462 24 10
SOX6 P35712 SRY-box transcription factor 6 1.00 0.578 0.615 24 41
HERC2 O95714 HECT and RLD domain containing E3 ubiquitin protein ligase 2 1.00 0.568 0.692 23 11
ST3GAL4 Q11206 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 4.0E-02 0.588 0.692 19 25
ZNF831 Q5JPB2 zinc finger protein 831 7.9E-10 0.792 0.192 17 19
NTM Q9P121 neurotrimin 5.8E-02 0.644 0.577 17 25
LINC01505 long intergenic non-protein coding RNA 1505 0.821 0.192 15 25
NPLOC4 Q8TAT6 NPL4 homolog, ubiquitin recognition factor 1.00 0.743 0.385 15 9
MSH5-SAPCD1 MSH5-SAPCD1 readthrough (NMD candidate) 0.760 0.423 14 10
SYNE2 Q8WXH0 spectrin repeat containing nuclear envelope protein 2 1.7E-25 0.623 0.692 14 14
PTCSC2 papillary thyroid carcinoma susceptibility candidate 2 0.751 0.231 13 15
AQP4-AS1 AQP4 antisense RNA 1 0.751 0.577 13 15
OCA2 Q04671 OCA2 melanosomal transmembrane protein 2.9E-13 0.539 0.808 11 19
FANCA O15360 FA complementation group A 1.6E-68 0.505 0.731 10 11
LINC-PINT long intergenic non-protein coding RNA, p53 induced transcript 0.663 0.577 10 14
MITF O75030 melanocyte inducing transcription factor 0.98 0.499 0.808 10 10
PKHD1 P08F94 PKHD1 ciliary IPT domain containing fibrocystin/polyductin 1.2E-47 0.576 0.654 10 26
EXOC2 Q96KP1 exocyst complex component 2 2.9E-09 0.751 0.423 10 14