Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
KAT6B Q8WYB5 lysine acetyltransferase 6B Enzyme 1.00 0.525 0.731
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
NFIX Q14938 nuclear factor I X Nucleic acid binding 1.00 0.547 0.769
POMT1 Q9Y6A1 protein O-mannosyltransferase 1 4.2E-17 0.525 0.615
TUBA1A Q71U36 tubulin alpha 1a Cellular structure 0.97 0.597 0.769
TICRR Q7Z2Z1 TOPBP1 interacting checkpoint and replication regulator 7.2E-14 0.769 0.423
SLC25A1 P53007 solute carrier family 25 member 1 Transporter 5.9E-02 0.553 0.731
DCC P43146 DCC netrin 1 receptor 0.99 0.471 0.808
BCL11A Q9H165 BAF chromatin remodeling complex subunit BCL11A Transcription factor 0.97 0.541 0.769
B9D1 Q9UPM9 B9 domain containing 1 Extracellular structure 2.8E-03 0.572 0.692
BCL11B Q9C0K0 BAF chromatin remodeling complex subunit BCL11B Transcription factor 0.99 0.568 0.731
SLC12A6 Q9UHW9 solute carrier family 12 member 6 Transporter 1.1E-02 0.603 0.500
BORCS5 Q969J3 BLOC-1 related complex subunit 5 1.2E-03 0.805 0.192
SETD2 Q9BYW2 SET domain containing 2, histone lysine methyltransferase Epigenetic regulator 1.00 0.424 0.846
KIF4A O95239 kinesin family member 4A Cellular structure 1.00 0.647 0.462
FZD3 Q9NPG1 frizzled class receptor 3 G-protein coupled receptor 4.4E-04 0.659 0.577
PAK3 O75914 p21 (RAC1) activated kinase 3 Kinase 0.99 0.569 0.731
TMLHE-AS1 TMLHE antisense RNA 1 0.931 0.115
TMLHE Q9NVH6 trimethyllysine hydroxylase, epsilon 8.0E-05 0.821 0.231