Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CENPT Q96BT3 centromere protein T 5.8E-06 0.821 0.231
ISCA1 Q9BUE6 iron-sulfur cluster assembly 1 0.17 0.792 0.231
ISCA2 Q86U28 iron-sulfur cluster assembly 2 2.4E-08 0.743 0.231
EPB41L4A Q9HCS5 erythrocyte membrane protein band 4.1 like 4A 3.5E-21 0.890 0.231
THAP11 Q96EK4 THAP domain containing 11 0.83 0.769 0.346
PRR12 Q9ULL5 proline rich 12 1.00 0.716 0.385
SMARCD2 Q92925 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 Nucleic acid binding 6.5E-05 0.700 0.385
SEPSECS Q9HD40 Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 1.6E-08 0.656 0.423
EXOSC9 Q06265 exosome component 9 Enzyme 1.8E-11 0.705 0.423
TCF20 Q9UGU0 transcription factor 20 Transcription factor 1.00 0.644 0.423
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
UNC80 Q8N2C7 unc-80 homolog, NALCN channel complex subunit 5.2E-02 0.626 0.462
TRIP12 Q14669 thyroid hormone receptor interactor 12 1.00 0.678 0.462
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
MYBPC1 Q00872 myosin binding protein C1 4.8E-05 0.666 0.462
ATP5F1D P30049 ATP synthase F1 subunit delta Transporter 7.4E-02 0.674 0.500
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
TIMM50 Q3ZCQ8 translocase of inner mitochondrial membrane 50 1.8E-03 0.678 0.500
COG7 P83436 component of oligomeric golgi complex 7 2.6E-07 0.686 0.500
CAMK2B Q13554 calcium/calmodulin dependent protein kinase II beta Kinase 0.74 0.626 0.538
OTUD6B Q8N6M0 OTU deubiquitinase 6B Enzyme 1.3E-07 0.659 0.538
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577
PIGQ Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 1.4E-06 0.610 0.577