Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
VPS11 Q9H270 VPS11 core subunit of CORVET and HOPS complexes Transporter 1.9E-05 0.633 0.654 26 1
ACTL6A O96019 actin like 6A Cellular structure 1.00 0.678 0.346 13 1
AFF3 P51826 AF4/FMR2 family member 3 Transcription factor 1.00 0.623 0.692 8 1
MED13 Q9UHV7 mediator complex subunit 13 1.00 0.711 0.538 6 1
GSPT2 Q8IYD1 G1 to S phase transition 2 Enzyme 0.98 0.821 0.154 3 1
KCNMA1-AS1 KCNMA1 antisense RNA 1 0.705 0.654 37 2
TSPEAR-AS1 TSPEAR antisense RNA 1 0.821 0.269 15 2
CYFIP2 Q96F07 cytoplasmic FMR1 interacting protein 2 Enzyme modulator 1.00 0.633 0.731 13 2
FGF12 P61328 fibroblast growth factor 12 Signaling 0.62 0.619 0.615 7 2
ZMIZ1 Q9ULJ6 zinc finger MIZ-type containing 1 1.00 0.588 0.615 7 2
NBEA Q8NFP9 neurobeachin 1.00 0.760 0.538 4 2
GRIK4 Q16099 glutamate ionotropic receptor kainate type subunit 4 Ion channel 0.11 0.678 0.423 4 2
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462 37 3
PRR12 Q9ULL5 proline rich 12 1.00 0.716 0.385 24 3
BRSK2 Q8IWQ3 BR serine/threonine kinase 2 Kinase 0.95 0.700 0.500 16 3
SHANK2 Q9UPX8 SH3 and multiple ankyrin repeat domains 2 8.4E-07 0.663 0.385 7 3
KYNU Q16719 kynureninase Enzyme 4.2E-18 0.617 0.692 20 4
TSPEAR Q8WU66 thrombospondin type laminin G domain and EAR repeats 2.4E-17 0.736 0.385 15 4
KCNMA1 Q12791 potassium calcium-activated channel subfamily M alpha 1 Ion channel 1.00 0.518 0.846 38 5
QRICH1 Q2TAL8 glutamine rich 1 Enzyme modulator 1.00 0.716 0.423 34 5
PGAP2 Q9UHJ9 post-GPI attachment to proteins 2 Enzyme modulator 0.93 0.633 0.615 8 5
MAST1 Q9Y2H9 microtubule associated serine/threonine kinase 1 Kinase 1.00 0.711 0.385 7 5
ASXL2 Q76L83 ASXL transcriptional regulator 2 1.00 0.617 0.692 43 6
SYT1 P21579 synaptotagmin 1 Transporter 0.60 0.412 0.846 12 6