Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
MTIF2 P46199 mitochondrial translational initiation factor 2 Enzyme 3.7E-10 1.000 2 1
IQCE Q6IPM2 IQ motif containing E 1.4E-39 0.805 0.115 10 4
PKDCC Q504Y2 protein kinase domain containing, cytoplasmic Kinase 2.1E-05 0.821 0.154 10 4
KRT12 Q99456 keratin 12 2.5E-14 0.751 0.192 18 15
METTL23 Q86XA0 methyltransferase like 23 1.3E-07 0.682 0.231 49 6
LEFTY2 O00292 left-right determination factor 2 Signaling 2.9E-04 0.736 0.231 18 1
NADSYN1 Q6IA69 NAD synthetase 1 1.3E-16 0.780 0.231 14 11
C10orf105 Q8TEF2 chromosome 10 open reading frame 105 8.4E-02 0.861 0.231 6 15
LCA5 Q86VQ0 lebercilin LCA5 4.1E-05 0.674 0.269 53 6
COQ4 Q9Y3A0 coenzyme Q4 3.4E-09 0.780 0.269 17 16
COL27A1 Q8IZC6 collagen type XXVII alpha 1 chain 0.59 0.780 0.269 17 20
ECEL1 O95672 endothelin converting enzyme like 1 Enzyme 4.8E-13 0.638 0.308 60 21
HNRNPR O43390 heterogeneous nuclear ribonucleoprotein R Nucleic acid binding 1.00 0.722 0.308 31 2
VAX2 Q9UIW0 ventral anterior homeobox 2 Transcription factor 0.16 0.769 0.308 15 16
ATP6V1B1 P15313 ATPase H+ transporting V1 subunit B1 Transporter 2.4E-09 0.695 0.346 30 15
MYO15A Q9UKN7 myosin XVA Cellular structure 1.3E-56 0.722 0.346 26 77
TMEM151B Q8IW70 transmembrane protein 151B 0.14 0.792 0.346 12 13
TRMU O75648 tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase 1.5E-16 0.716 0.385 50 9
MN1 Q10571 MN1 proto-oncogene, transcriptional regulator 1.00 0.682 0.385 47 5
MSMO1 Q15800 methylsterol monooxygenase 1 Enzyme 9.0E-02 0.729 0.385 30 9
MYO7A Q13402 myosin VIIA Cellular structure 1.6E-38 0.585 0.423 104 194
WDR45 Q9Y484 WD repeat domain 45 0.99 0.647 0.423 72 31
DIPK1A Q5T7M9 divergent protein kinase domain 1A 0.58 0.743 0.423 33 22
SPNS2 Q8IVW8 sphingolipid transporter 2 Transporter 1.2E-05 0.729 0.423 23 2