Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
WNT2B Q93097 Wnt family member 2B Signaling 3.8E-02 0.644 0.615
WDR26 Q9H7D7 WD repeat domain 26 1.00 0.606 0.769
UNC80 Q8N2C7 unc-80 homolog, NALCN channel complex subunit 5.2E-02 0.626 0.462
UBA5 Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 2.5E-04 0.582 0.731
TUBB P07437 tubulin beta class I Cellular structure 0.98 0.603 0.692
TANGO2 Q6ICL3 transport and golgi organization 2 homolog 1.5E-04 0.666 0.615
TIMM50 Q3ZCQ8 translocase of inner mitochondrial membrane 50 1.8E-03 0.678 0.500
TFAM Q00059 transcription factor A, mitochondrial 0.17 0.529 0.731
TCF20 Q9UGU0 transcription factor 20 Transcription factor 1.00 0.644 0.423
TRIP12 Q14669 thyroid hormone receptor interactor 12 1.00 0.678 0.462
THOC6 Q86W42 THO complex 6 4.8E-04 0.705 0.577
THAP11 Q96EK4 THAP domain containing 11 0.83 0.769 0.346
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
SURF1 Q15526 SURF1 cytochrome c oxidase assembly factor Enzyme 1.6E-13 0.578 0.654
SRD5A3 Q9H8P0 steroid 5 alpha-reductase 3 2.5E-04 0.604 0.692
SOX5 P35711 SRY-box transcription factor 5 1.00 0.545 0.769
SPATA5 Q8NB90 spermatogenesis associated 5 9.1E-20 0.670 0.654
SPART Q8N0X7 spartin 3.0E-07 0.588 0.654
SON P18583 SON DNA binding protein 1.00 0.565 0.769
SLC9A6 Q92581 solute carrier family 9 member A6 Transporter 1.00 0.516 0.846
SLC6A3 Q01959 solute carrier family 6 member 3 Transporter 1.00 0.453 0.885
SLC35A2 P78381 solute carrier family 35 member A2 Transporter 0.72 0.525 0.808
SLC26A4 O43511 solute carrier family 26 member 4 Transporter 9.0E-22 0.507 0.885
SLC25A1 P53007 solute carrier family 25 member 1 Transporter 5.9E-02 0.553 0.731
STAT1 P42224 signal transducer and activator of transcription 1 Nucleic acid binding 1.00 0.399 0.885