Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577 69 37
FLG-AS1 FLG antisense RNA 1 0.700 0.538 37 21
TRNL1 tRNA 0.534 0.731 22 11
PTCHD1-AS PTCHD1 antisense RNA (head to head) 0.839 0.308 9 44
AQP4-AS1 AQP4 antisense RNA 1 0.751 0.577 6 1
LINC00624 long intergenic non-protein coding RNA 624 1.000 0.077 1 1
H2AP O75409 H2A.P histone Nucleic acid binding 1 1
OBSCN Q5VST9 obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF Kinase 1.9E-164 0.736 0.538 1 2
USH2A O75445 usherin Enzyme modulator 1.6E-94 0.579 0.692 41 324
LZTR1 Q8N653 leucine zipper like transcription regulator 1 1.0E-92 0.547 0.808 38 24
ROS1 P08922 ROS proto-oncogene 1, receptor tyrosine kinase Kinase 1.6E-72 0.439 0.885 3 3
DNAH17 Q9UFH2 dynein axonemal heavy chain 17 Enzyme 2.0E-63 0.839 0.154 1 2
MYH7B A7E2Y1 myosin heavy chain 7B 4.3E-46 0.792 0.308 1 3
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 2.5E-45 0.579 0.769 27 294
COL7A1 Q02388 collagen type VII alpha 1 chain Receptor 2.4E-40 0.545 0.808 38 68
CHD1L Q86WJ1 chromodomain helicase DNA binding protein 1 like 1.0E-36 0.631 0.577 1 1
CPZ Q66K79 carboxypeptidase Z 8.8E-36 0.839 0.154 1 2
WRN Q14191 WRN RecQ like helicase Enzyme 2.6E-34 0.524 0.808 8 57
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808 34 121
OBSL1 O75147 obscurin like cytoskeletal adaptor 1 1.0E-25 0.686 0.308 16 11
ITIH6 Q6UXX5 inter-alpha-trypsin inhibitor heavy chain family member 6 1.5E-24 1 1
ABCC8 Q09428 ATP binding cassette subfamily C member 8 Transporter 8.0E-24 0.474 0.846 32 164
POLR3B Q9NW08 RNA polymerase III subunit B Enzyme 1.7E-23 0.628 0.654 9 13
TPO P07202 thyroid peroxidase Enzyme 1.8E-21 0.455 0.846 8 14