Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462 97 11
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846 93 79
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885 70 52
NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577 69 37
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808 63 59
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885 61 61
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769 54 33
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808 52 22
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346 50 425
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692 46 51
TRIP12 Q14669 thyroid hormone receptor interactor 12 1.00 0.678 0.462 46 10
HGSNAT Q68CP4 heparan-alpha-glucosaminide N-acetyltransferase 6.3E-08 0.628 0.577 45 38
ASXL2 Q76L83 ASXL transcriptional regulator 2 1.00 0.617 0.692 43 6
ERCC8 Q13216 ERCC excision repair 8, CSA ubiquitin ligase complex subunit 2.8E-15 0.551 0.885 41 32
TRIP11 Q15643 thyroid hormone receptor interactor 11 1.7E-12 0.595 0.654 40 19
LZTR1 Q8N653 leucine zipper like transcription regulator 1 1.0E-92 0.547 0.808 38 24
KCNMA1-AS1 KCNMA1 antisense RNA 1 0.705 0.654 37 2
PUF60 Q9UHX1 poly(U) binding splicing factor 60 1.00 0.536 0.769 37 23
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538 30 42
TMCO1 Q9UM00 transmembrane and coiled-coil domains 1 9.4E-10 0.588 0.654 30 9
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 2.5E-45 0.579 0.769 27 294
LAMA1 P25391 laminin subunit alpha 1 3.2E-32 0.582 0.808 27 13
SPG11 Q96JI7 SPG11 vesicle trafficking associated, spatacsin 1.6E-39 0.576 0.538 27 133
MITF O75030 melanocyte inducing transcription factor 0.98 0.499 0.808 25 24