Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
SRCAP Q6ZRS2 Snf2 related CREBBP activator protein 1.00 0.610 0.731 57 8
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808 54 264
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769 54 237
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769 54 33
SPATA5 Q8NB90 spermatogenesis associated 5 9.1E-20 0.670 0.654 54 14
PIGQ Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 1.4E-06 0.610 0.577 54 4
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808 52 22
TANGO2 Q6ICL3 transport and golgi organization 2 homolog 1.5E-04 0.666 0.615 51 6
MIPEP Q99797 mitochondrial intermediate peptidase Enzyme 1.6E-15 0.666 0.615 51 2
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346 50 425
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846 50 138
PLA2G6 O60733 phospholipase A2 group VI Enzyme modulator 2.5E-10 0.476 0.846 49 61
PALB2 Q86YC2 partner and localizer of BRCA2 3.0E-19 0.485 0.769 48 393
CHEK2 O96017 checkpoint kinase 2 Kinase 1.2E-24 0.460 0.808 48 209
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692 48 32
SLC35A2 P78381 solute carrier family 35 member A2 Transporter 0.72 0.525 0.808 48 17
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885 47 887
PURA Q00577 purine rich element binding protein A Nucleic acid binding 0.94 0.644 0.500 47 36
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846 47 14
TBCK Q8TEA7 TBC1 domain containing kinase Kinase 2.1E-15 0.650 0.654 47 11
LMNA P02545 lamin A/C 1.00 0.384 0.885 46 196
KCNQ1 P51787 potassium voltage-gated channel subfamily Q member 1 Ion channel 4.5E-08 0.485 0.769 46 163
PEX1 O43933 peroxisomal biogenesis factor 1 1.1E-14 0.538 0.769 46 99
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692 46 51