Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
SOX5 P35711 SRY-box transcription factor 5 1.00 0.545 0.769
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731
NFIX Q14938 nuclear factor I X Nucleic acid binding 1.00 0.547 0.769
ERCC8 Q13216 ERCC excision repair 8, CSA ubiquitin ligase complex subunit 2.8E-15 0.551 0.885
SLC25A1 P53007 solute carrier family 25 member 1 Transporter 5.9E-02 0.553 0.731
GMNN O75496 geminin DNA replication inhibitor 0.11 0.554 0.808
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
SON P18583 SON DNA binding protein 1.00 0.565 0.769
ANTXR2 P58335 ANTXR cell adhesion molecule 2 Receptor 8.7E-02 0.568 0.808
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
SURF1 Q15526 SURF1 cytochrome c oxidase assembly factor Enzyme 1.6E-13 0.578 0.654
UBA5 Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 2.5E-04 0.582 0.731
SPART Q8N0X7 spartin 3.0E-07 0.588 0.654
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
GATAD2B Q8WXI9 GATA zinc finger domain containing 2B Nucleic acid binding 1.00 0.593 0.654
SHOC2 Q9UQ13 SHOC2 leucine rich repeat scaffold protein 1.00 0.593 0.769
PHIP Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 1.00 0.595 0.769
MDH2 P40926 malate dehydrogenase 2 Enzyme 6.7E-03 0.595 0.731
COL6A2 P12110 collagen type VI alpha 2 chain Receptor 6.5E-08 0.599 0.692
TUBB P07437 tubulin beta class I Cellular structure 0.98 0.603 0.692
SRD5A3 Q9H8P0 steroid 5 alpha-reductase 3 2.5E-04 0.604 0.692
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
MAN1B1 Q9UKM7 mannosidase alpha class 1B member 1 Chaperone 1.2E-08 0.606 0.577