Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
TMEM87B Q96K49 transmembrane protein 87B 3.7E-13 0.861 0.115
FAM98C Q17RN3 family with sequence similarity 98 member C 1.1E-07 0.931 0.115
ARL14EP Q8N8R7 ADP ribosylation factor like GTPase 14 effector protein 0.38 0.861 0.192
POLR3GL Q9BT43 RNA polymerase III subunit G like Enzyme 2.3E-05 0.839 0.231
TAF6 P49848 TATA-box binding protein associated factor 6 Transcription factor 8.3E-09 0.769 0.308
PCDH12 Q9NPG4 protocadherin 12 2.9E-13 0.722 0.346
SMG9 Q9H0W8 SMG9 nonsense mediated mRNA decay factor 3.5E-13 0.729 0.346
TASP1 Q9H6P5 taspase 1 Enzyme 0.61 0.805 0.346
TBR1 Q16650 T-box brain transcription factor 1 Transcription factor 1.00 0.666 0.385
FIGNL1 Q6PIW4 fidgetin like 1 Cellular structure 1.2E-04 0.805 0.385
MAST1 Q9Y2H9 microtubule associated serine/threonine kinase 1 Kinase 1.00 0.711 0.385
NUP214 P35658 nucleoporin 214 Nucleic acid binding 5.5E-02 0.638 0.385
KCNK4 Q9NYG8 potassium two pore domain channel subfamily K member 4 Ion channel 5.7E-03 0.743 0.385
NAA15 Q9BXJ9 N-alpha-acetyltransferase 15, NatA auxiliary subunit Enzyme 1.00 0.700 0.423
EFTUD2 Q15029 elongation factor Tu GTP binding domain containing 2 Enzyme 1.00 0.647 0.462
BRSK2 Q8IWQ3 BR serine/threonine kinase 2 Kinase 0.95 0.700 0.500
ZBTB18 Q99592 zinc finger and BTB domain containing 18 Transcription factor 1.00 0.666 0.500
SLC12A6 Q9UHW9 solute carrier family 12 member 6 Transporter 1.1E-02 0.603 0.500
FLG-AS1 FLG antisense RNA 1 0.700 0.538
OTUD6B Q8N6M0 OTU deubiquitinase 6B Enzyme 1.3E-07 0.659 0.538
PRMT7 Q9NVM4 protein arginine methyltransferase 7 Epigenetic regulator 5.5E-15 0.674 0.538
GMPPB Q9Y5P6 GDP-mannose pyrophosphorylase B 8.4E-07 0.578 0.538
EARS2 Q5JPH6 glutamyl-tRNA synthetase 2, mitochondrial Enzyme 1.1E-08 0.666 0.538
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
PPP2R1A P30153 protein phosphatase 2 scaffold subunit Aalpha Enzyme 0.98 0.588 0.577