Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
HAAO P46952 3-hydroxyanthranilate 3,4-dioxygenase 1.1E-08 0.644 0.538
ASPM Q8IZT6 abnormal spindle microtubule assembly 3.4E-49 0.526 0.769
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
ADAT3 Q96EY9 adenosine deaminase tRNA specific 3 5.6E-03 0.736 0.385
ADGRG1 Q9Y653 adhesion G protein-coupled receptor G1 G-protein coupled receptor 5.3E-10 0.590 0.654
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
ASH2L Q9UBL3 ASH2 like, histone lysine methyltransferase complex subunit Nucleic acid binding 1.00 0.743 0.308
AHDC1 Q5TGY3 AT-hook DNA binding motif containing 1 1.00 0.700 0.500
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ABCC9 O60706 ATP binding cassette subfamily C member 9 Transporter 9.4E-09 0.552 0.692
ATP6V1B2 P21281 ATPase H+ transporting V1 subunit B2 Transporter 0.99 0.606 0.577
ATP2B3 Q16720 ATPase plasma membrane Ca2+ transporting 3 Transporter 1.00 0.631 0.692
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
BCL11A Q9H165 BAF chromatin remodeling complex subunit BCL11A Transcription factor 0.97 0.541 0.769
BBS1 Q8NFJ9 Bardet-Biedl syndrome 1 3.4E-12 0.593 0.692
BBS10 Q8TAM1 Bardet-Biedl syndrome 10 1.7E-12 0.644 0.538
BBS12 Q6ZW61 Bardet-Biedl syndrome 12 2.3E-07 0.674 0.462
BBS2 Q9BXC9 Bardet-Biedl syndrome 2 1.0E-17 0.565 0.654
BCS1L Q9Y276 BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 4.7E-13 0.534 0.808
BRF1 Q92994 BRF1 RNA polymerase III transcription initiation factor subunit Transcription factor 1.0E-04 0.700 0.462
BRPF1 P55201 bromodomain and PHD finger containing 1 1.00 0.686 0.385
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769