Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PHIP Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 1.00 0.595 0.769
KMT2B Q9UMN6 lysine methyltransferase 2B 1.00 0.529 0.808
NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577
UBA5 Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 2.5E-04 0.582 0.731
SLC9A6 Q92581 solute carrier family 9 member A6 Transporter 1.00 0.516 0.846
IRAK1BP1 Q5VVH5 interleukin 1 receptor associated kinase 1 binding protein 1 1.4E-06 0.780 0.346
GNAO1 P09471 G protein subunit alpha o1 Enzyme modulator 0.99 0.523 0.808
CSTB P04080 cystatin B Enzyme modulator 6.6E-03 0.530 0.692
ALG13 Q9NP73 ALG13 UDP-N-acetylglucosaminyltransferase subunit 1.00 0.631 0.577
RHOBTB2 Q9BYZ6 Rho related BTB domain containing 2 Enzyme modulator 1.3E-02 0.631 0.615
FRRS1L Q9P0K9 ferric chelate reductase 1 like 1.5E-03 0.666 0.231