Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PCDHB4 Q9Y5E5 protocadherin beta 4 7.0E-12 0.931 0.077
TMEM87B Q96K49 transmembrane protein 87B 3.7E-13 0.861 0.115
ARL14EP Q8N8R7 ADP ribosylation factor like GTPase 14 effector protein 0.38 0.861 0.192
AAR2 Q9Y312 AAR2 splicing factor 8.3E-06 0.839 0.192
MTSS2 Q765P7 MTSS I-BAR domain containing 2 Cellular structure 0.98 0.839 0.231
CENPT Q96BT3 centromere protein T 5.8E-06 0.821 0.231
STX7 O15400 syntaxin 7 Transporter 5.0E-06 0.821 0.231
CINP Q9BW66 cyclin dependent kinase 2 interacting protein 5.7E-02 0.821 0.231
AP4B1-AS1 AP4B1 antisense RNA 1 0.805 0.231
BORCS5 Q969J3 BLOC-1 related complex subunit 5 1.2E-03 0.805 0.192
ISCA1 Q9BUE6 iron-sulfur cluster assembly 1 0.17 0.792 0.231
THAP11 Q96EK4 THAP domain containing 11 0.83 0.769 0.346
MATN4 O95460 matrilin 4 Receptor 1.1E-08 0.769 0.308
CLASP1 Q7Z460 cytoplasmic linker associated protein 1 Cellular structure 1.00 0.751 0.500
DHX30 Q7L2E3 DExH-box helicase 30 Enzyme 1.00 0.722 0.500
LRRCC1 Q9C099 leucine rich repeat and coiled-coil centrosomal protein 1 7.2E-21 0.722 0.577
PRR12 Q9ULL5 proline rich 12 1.00 0.716 0.385
QARS1 P47897 glutaminyl-tRNA synthetase 1 Enzyme 2.7E-13 0.716 0.231
UTP23 Q9BRU9 UTP23 small subunit processome component 8.6E-02 0.711 0.385
VARS1 P26640 valyl-tRNA synthetase 1 1.8E-08 0.711 0.500
POC1B Q8TC44 POC1 centriolar protein B 3.0E-08 0.705 0.385
FLG-AS1 FLG antisense RNA 1 0.700 0.538
RFT1 Q96AA3 RFT1 homolog 3.7E-13 0.700 0.500
MYCNOS P40205 MYCN opposite strand 0.700 0.462
BRF1 Q92994 BRF1 RNA polymerase III transcription initiation factor subunit Transcription factor 1.0E-04 0.700 0.462