Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ADGRG1 Q9Y653 adhesion G protein-coupled receptor G1 G-protein coupled receptor 5.3E-10 0.590 0.654
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ARID2 Q68CP9 AT-rich interaction domain 2 1.00 0.543 0.808
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
ATP6V1A P38606 ATPase H+ transporting V1 subunit A Transporter 0.87 0.579 0.615
BICD2 Q8TD16 BICD cargo adaptor 2 0.98 0.615 0.731
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
BRSK2 Q8IWQ3 BR serine/threonine kinase 2 Kinase 0.95 0.700 0.500
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
CBL P22681 Cbl proto-oncogene Enzyme 6.1E-04 0.527 0.769
CENPJ Q9HC77 centromere protein J Enzyme 2.1E-27 0.546 0.846
CHD2 O14647 chromodomain helicase DNA binding protein 2 1.00 0.585 0.577
CIZ1 Q9ULV3 CDKN1A interacting zinc finger protein 1 6.3E-02 0.617 0.500
CLPB Q9H078 caseinolytic mitochondrial matrix peptidase chaperone subunit B 5.0E-04 0.631 0.654
DDC P20711 dopa decarboxylase 3.8E-08 0.535 0.769
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
DHX30 Q7L2E3 DExH-box helicase 30 Enzyme 1.00 0.722 0.500
DNM1 Q05193 dynamin 1 Enzyme modulator 1.00 0.595 0.692
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
ERCC8 Q13216 ERCC excision repair 8, CSA ubiquitin ligase complex subunit 2.8E-15 0.551 0.885
FGF12 P61328 fibroblast growth factor 12 Signaling 0.62 0.619 0.615
FIGNL1 Q6PIW4 fidgetin like 1 Cellular structure 1.2E-04 0.805 0.385
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
GLB1 P16278 galactosidase beta 1 Enzyme 7.9E-10 0.448 0.808
GRIK4 Q16099 glutamate ionotropic receptor kainate type subunit 4 Ion channel 0.11 0.678 0.423