Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PTH2R P49190 parathyroid hormone 2 receptor G-protein coupled receptor 1.4E-20 0.780 0.308
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346
TBR1 Q16650 T-box brain transcription factor 1 Transcription factor 1.00 0.666 0.385
FIGNL1 Q6PIW4 fidgetin like 1 Cellular structure 1.2E-04 0.805 0.385
SHANK2 Q9UPX8 SH3 and multiple ankyrin repeat domains 2 8.4E-07 0.663 0.385
MAST1 Q9Y2H9 microtubule associated serine/threonine kinase 1 Kinase 1.00 0.711 0.385
TCF20 Q9UGU0 transcription factor 20 Transcription factor 1.00 0.644 0.423
NAA15 Q9BXJ9 N-alpha-acetyltransferase 15, NatA auxiliary subunit Enzyme 1.00 0.700 0.423
SNX14 Q9Y5W7 sorting nexin 14 Enzyme modulator 6.1E-17 0.659 0.423
KMT5B Q4FZB7 lysine methyltransferase 5B Epigenetic regulator 1.00 0.736 0.423
GRIK4 Q16099 glutamate ionotropic receptor kainate type subunit 4 Ion channel 0.11 0.678 0.423
ZNF711 Q9Y462 zinc finger protein 711 0.98 0.691 0.423
KCNQ3 O43525 potassium voltage-gated channel subfamily Q member 3 Ion channel 0.80 0.604 0.462
PPP2R5D Q14738 protein phosphatase 2 regulatory subunit B'delta Enzyme 1.00 0.722 0.462
PURA Q00577 purine rich element binding protein A Nucleic acid binding 0.94 0.644 0.500
DHX30 Q7L2E3 DExH-box helicase 30 Enzyme 1.00 0.722 0.500
BRSK2 Q8IWQ3 BR serine/threonine kinase 2 Kinase 0.95 0.700 0.500
SCAPER Q9BY12 S-phase cyclin A associated protein in the ER 8.8E-03 0.653 0.500
ZMYND11 Q15326 zinc finger MYND-type containing 11 1.00 0.647 0.500
CIZ1 Q9ULV3 CDKN1A interacting zinc finger protein 1 6.3E-02 0.617 0.500
ZBTB18 Q99592 zinc finger and BTB domain containing 18 Transcription factor 1.00 0.666 0.500
TTC8 Q8TAM2 tetratricopeptide repeat domain 8 1.2E-06 0.631 0.500
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
MED13 Q9UHV7 mediator complex subunit 13 1.00 0.711 0.538
NBEA Q8NFP9 neurobeachin 1.00 0.760 0.538