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
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346 50 425
KCNMA1-AS1 KCNMA1 antisense RNA 1 0.705 0.654 37 2
TSPEAR-AS1 TSPEAR antisense RNA 1 0.821 0.269 15 2
LZTR1 Q8N653 leucine zipper like transcription regulator 1 1.0E-92 0.547 0.808 38 24
LAMA2 P24043 laminin subunit alpha 2 Enzyme modulator 2.4E-47 0.553 0.692 19 116
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 2.5E-45 0.579 0.769 27 294
SPG11 Q96JI7 SPG11 vesicle trafficking associated, spatacsin 1.6E-39 0.576 0.538 27 133
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846 14 22
LAMA1 P25391 laminin subunit alpha 1 3.2E-32 0.582 0.808 27 13
TPO P07202 thyroid peroxidase Enzyme 1.8E-21 0.455 0.846 8 14
KYNU Q16719 kynureninase Enzyme 4.2E-18 0.617 0.692 20 4
HOOK2 Q96ED9 hook microtubule tethering protein 2 Enzyme modulator 4.6E-18 0.659 0.654 9 18
BBS2 Q9BXC9 Bardet-Biedl syndrome 2 1.0E-17 0.565 0.654 22 50
TSPEAR Q8WU66 thrombospondin type laminin G domain and EAR repeats 2.4E-17 0.736 0.385 15 4
ZNF142 P52746 zinc finger protein 142 Transcription factor 4.8E-16 0.861 0.192 5 20
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846 62 116
ERCC8 Q13216 ERCC excision repair 8, CSA ubiquitin ligase complex subunit 2.8E-15 0.551 0.885 41 32
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808 52 22
TRIP11 Q15643 thyroid hormone receptor interactor 11 1.7E-12 0.595 0.654 40 19
ADGRG1 Q9Y653 adhesion G protein-coupled receptor G1 G-protein coupled receptor 5.3E-10 0.590 0.654 25 25
GLB1 P16278 galactosidase beta 1 Enzyme 7.9E-10 0.448 0.808 12 72
TMCO1 Q9UM00 transmembrane and coiled-coil domains 1 9.4E-10 0.588 0.654 30 9
HGSNAT Q68CP4 heparan-alpha-glucosaminide N-acetyltransferase 6.3E-08 0.628 0.577 45 38