Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABCC6 O95255 ATP binding cassette subfamily C member 6 Transporter 5.6E-35 0.540 0.654
ABCD1 P33897 ATP binding cassette subfamily D member 1 Transporter 1.00 0.563 0.731
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
ADGRG1 Q9Y653 adhesion G protein-coupled receptor G1 G-protein coupled receptor 5.3E-10 0.590 0.654
ADK P55263 adenosine kinase Kinase 3.1E-04 0.584 0.769
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
AFF3 P51826 AF4/FMR2 family member 3 Transcription factor 1.00 0.623 0.692
ALDH7A1 P49419 aldehyde dehydrogenase 7 family member A1 Enzyme 1.4E-22 0.551 0.769
ALG1 Q9BT22 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase Enzyme 3.6E-19 0.610 0.808
ALG13 Q9NP73 ALG13 UDP-N-acetylglucosaminyltransferase subunit 1.00 0.631 0.577
ALG3 Q92685 ALG3 alpha-1,3- mannosyltransferase Enzyme 3.7E-10 0.644 0.500
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
AP4E1 Q9UPM8 adaptor related protein complex 4 subunit epsilon 1 Receptor 2.8E-03 0.656 0.385
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615
ATP7A Q04656 ATPase copper transporting alpha Transporter 1.00 0.494 0.769
ATRIP Q8WXE1 ATR interacting protein 2.0E-05 0.666 0.692
BICD2 Q8TD16 BICD cargo adaptor 2 0.98 0.615 0.731
BORCS5 Q969J3 BLOC-1 related complex subunit 5 1.2E-03 0.805 0.192
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846