Source: CLINGEN

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
OBSCN Q5VST9 obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF Kinase 1.9E-164 0.736 0.538 1
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885 1
USH2A O75445 usherin Enzyme modulator 1.6E-94 0.579 0.692 1
LZTR1 Q8N653 leucine zipper like transcription regulator 1 1.0E-92 0.547 0.808 6
FANCA O15360 FA complementation group A 1.6E-68 0.505 0.731 3
ALMS1 Q8TCU4 ALMS1 centrosome and basal body associated protein 4.5E-60 0.559 0.808 1
MYO15A Q9UKN7 myosin XVA Cellular structure 1.3E-56 0.722 0.346 1
OTOGL Q3ZCN5 otogelin like Enzyme modulator 4.7E-52 0.805 0.269 1
ATM Q13315 ATM serine/threonine kinase Kinase 5.6E-47 0.374 0.885 6
MYO3A Q8NEV4 myosin IIIA Kinase 1.8E-45 0.780 0.269 1
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 2.5E-45 0.579 0.769 1
NEB P20929 nebulin 4.6E-41 0.608 0.692 1
MYOM1 P52179 myomesin 1 1.7E-40 0.839 0.269 1
ADGRV1 Q8WXG9 adhesion G protein-coupled receptor V1 G-protein coupled receptor 3.2E-39 0.572 0.731 2
OTOF Q9HC10 otoferlin Transporter 5.4E-39 0.691 0.385 3
MYO7A Q13402 myosin VIIA Cellular structure 1.6E-38 0.585 0.423 6
WFS1 O76024 wolframin ER transmembrane glycoprotein 1.6E-38 0.528 0.846 3
SCN10A Q9Y5Y9 sodium voltage-gated channel alpha subunit 10 Ion channel 9.9E-38 0.566 0.692 7
OTOG Q6ZRI0 otogelin 6.6E-37 0.805 0.231 1
CHD1L Q86WJ1 chromodomain helicase DNA binding protein 1 like 1.0E-36 0.631 0.577 1
RECQL4 O94761 RecQ like helicase 4 Enzyme 3.3E-35 0.496 0.808 1
EVC2 Q86UK5 EvC ciliary complex subunit 2 1.0E-34 0.585 0.692 1
A2ML1 A8K2U0 alpha-2-macroglobulin like 1 Enzyme modulator 1.6E-34 0.590 0.692 6
WRN Q14191 WRN RecQ like helicase Enzyme 2.6E-34 0.524 0.808 1