Source: CLINVAR

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 1 1
PKDCC Q504Y2 protein kinase domain containing, cytoplasmic Kinase 2.1E-05 0.821 0.154 4 2
KRT12 Q99456 keratin 12 2.5E-14 0.751 0.192 1 1
C10orf105 Q8TEF2 chromosome 10 open reading frame 105 8.4E-02 0.861 0.231 5 10
METTL23 Q86XA0 methyltransferase like 23 1.3E-07 0.682 0.231 4 5
LCA5 Q86VQ0 lebercilin LCA5 4.1E-05 0.674 0.269 4 6
COQ4 Q9Y3A0 coenzyme Q4 3.4E-09 0.780 0.269 3 14
COL27A1 Q8IZC6 collagen type XXVII alpha 1 chain 0.59 0.780 0.269 3 7
ECEL1 O95672 endothelin converting enzyme like 1 Enzyme 4.8E-13 0.638 0.308 15 20
VAX2 Q9UIW0 ventral anterior homeobox 2 Transcription factor 0.16 0.769 0.308 6 9
HNRNPR O43390 heterogeneous nuclear ribonucleoprotein R Nucleic acid binding 1.00 0.722 0.308 2 1
TMEM151B Q8IW70 transmembrane protein 151B 0.14 0.792 0.346 10 9
MYO15A Q9UKN7 myosin XVA Cellular structure 1.3E-56 0.722 0.346 6 72
ATP6V1B1 P15313 ATPase H+ transporting V1 subunit B1 Transporter 2.4E-09 0.695 0.346 6 9
MN1 Q10571 MN1 proto-oncogene, transcriptional regulator 1.00 0.682 0.385 4 3
TRMU O75648 tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase 1.5E-16 0.716 0.385 3 8
MSMO1 Q15800 methylsterol monooxygenase 1 Enzyme 9.0E-02 0.729 0.385 3 3
DIPK1A Q5T7M9 divergent protein kinase domain 1A 0.58 0.743 0.423 23 13
WDR45 Q9Y484 WD repeat domain 45 0.99 0.647 0.423 17 31
MYO7A Q13402 myosin VIIA Cellular structure 1.6E-38 0.585 0.423 17 172
SPNS2 Q8IVW8 sphingolipid transporter 2 Transporter 1.2E-05 0.729 0.423 3 1
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462 97 11
MORC2 Q9Y6X9 MORC family CW-type zinc finger 2 1.00 0.626 0.462 31 6