Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ECEL1 O95672 endothelin converting enzyme like 1 Enzyme 4.8E-13 0.638 0.308
MPP4 Q96JB8 membrane palmitoylated protein 4 Enzyme 3.4E-18 0.792 0.308
UTP23 Q9BRU9 UTP23 small subunit processome component 8.6E-02 0.711 0.385
KCTD7 Q96MP8 potassium channel tetramerization domain containing 7 Enzyme modulator 6.3E-04 0.650 0.423
UNC80 Q8N2C7 unc-80 homolog, NALCN channel complex subunit 5.2E-02 0.626 0.462
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
PURA Q00577 purine rich element binding protein A Nucleic acid binding 0.94 0.644 0.500
AGTPBP1 Q9UPW5 ATP/GTP binding protein 1 Enzyme 0.42 0.650 0.538
OTUD6B Q8N6M0 OTU deubiquitinase 6B Enzyme 1.3E-07 0.659 0.538
EARS2 Q5JPH6 glutamyl-tRNA synthetase 2, mitochondrial Enzyme 1.1E-08 0.666 0.538
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654
TMEM94 Q12767 transmembrane protein 94 2.8E-14 0.628 0.654
SPATA5 Q8NB90 spermatogenesis associated 5 9.1E-20 0.670 0.654
TBCK Q8TEA7 TBC1 domain containing kinase Kinase 2.1E-15 0.650 0.654
TMEM258 P61165 transmembrane protein 258 1.9E-03 0.644 0.654
ASXL2 Q76L83 ASXL transcriptional regulator 2 1.00 0.617 0.692
USH2A O75445 usherin Enzyme modulator 1.6E-94 0.579 0.692
DNAH11 Q96DT5 dynein axonemal heavy chain 11 Enzyme 2.5E-58 0.587 0.692
SELENON Q9NZV5 selenoprotein N 9.8E-10 0.575 0.692
SCN4A P35499 sodium voltage-gated channel alpha subunit 4 Ion channel 1.3E-02 0.554 0.731
KLHL7 Q8IXQ5 kelch like family member 7 4.6E-05 0.581 0.731
MYRF Q9Y2G1 myelin regulatory factor 1.00 0.584 0.731
PLOD1 Q02809 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 Enzyme 1.5E-15 0.579 0.731
MTM1 Q13496 myotubularin 1 Enzyme 1.00 0.573 0.731