Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
TTN-AS1 TTN antisense RNA 1 0.599 0.577 78 567
SOX2-OT SOX2 overlapping transcript 0.597 0.615 7 21
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885 78 577
USH2A O75445 usherin Enzyme modulator 1.6E-94 0.579 0.692 41 324
DNAH5 Q8TE73 dynein axonemal heavy chain 5 Enzyme 4.9E-64 0.590 0.692 9 128
MYO15A Q9UKN7 myosin XVA Cellular structure 1.3E-56 0.722 0.346 6 72
ASPM Q8IZT6 abnormal spindle microtubule assembly 3.4E-49 0.526 0.769 16 147
NEB P20929 nebulin 4.6E-41 0.608 0.692 9 271
IQCE Q6IPM2 IQ motif containing E 1.4E-39 0.805 0.115 1 1
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846 14 22
MYO7A Q13402 myosin VIIA Cellular structure 1.6E-38 0.585 0.423 17 172
CPLANE1 Q9H799 ciliogenesis and planar polarity effector 1 5.9E-36 0.575 0.692 10 83
RECQL4 O94761 RecQ like helicase 4 Enzyme 3.3E-35 0.496 0.808 8 68
SAMD9 Q5K651 sterile alpha motif domain containing 9 1.1E-33 0.606 0.808 3 6
VWF P04275 von Willebrand factor Enzyme modulator 3.2E-25 0.408 0.885 17 77
CHEK2 O96017 checkpoint kinase 2 Kinase 1.2E-24 0.460 0.808 48 209
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769 42 82
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731 35 20
MAN2B1 O00754 mannosidase alpha class 2B member 1 4.8E-22 0.674 0.462 5 64
CHRNG P07510 cholinergic receptor nicotinic gamma subunit Ion channel 3.3E-19 0.573 0.692 5 14
GNPTAB Q3T906 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 7.7E-19 0.592 0.731 30 148
GAA P10253 glucosidase alpha, acid Enzyme 2.8E-18 0.631 0.577 18 171
AARS2 Q5JTZ9 alanyl-tRNA synthetase 2, mitochondrial Nucleic acid binding 5.0E-17 0.644 0.500 10 12
TRMU O75648 tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase 1.5E-16 0.716 0.385 3 8