Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
SLC26A4 O43511 solute carrier family 26 member 4 Transporter 9.0E-22 0.507 0.885
DIAPH1 O60610 diaphanous related formin 1 0.92 0.623 0.654
GMNN O75496 geminin DNA replication inhibitor 0.11 0.554 0.808
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
MFN2 O95140 mitofusin 2 Enzyme 0.99 0.471 0.846
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885
GBA P04062 glucosylceramidase beta 1.4E-06 0.500 0.808
FUCA1 P04066 alpha-L-fucosidase 1 2.7E-08 0.623 0.577
CSTB P04080 cystatin B Enzyme modulator 6.6E-03 0.530 0.692
TUBB P07437 tubulin beta class I Cellular structure 0.98 0.603 0.692
GAA P10253 glucosidase alpha, acid Enzyme 2.8E-18 0.631 0.577
COL6A2 P12110 collagen type VI alpha 2 chain Receptor 6.5E-08 0.599 0.692
SON P18583 SON DNA binding protein 1.00 0.565 0.769
ATP5F1D P30049 ATP synthase F1 subunit delta Transporter 7.4E-02 0.674 0.500
SOX5 P35711 SRY-box transcription factor 5 1.00 0.545 0.769
IGHMBP2 P38935 immunoglobulin mu DNA binding protein 2 3.0E-16 0.636 0.615
MDH2 P40926 malate dehydrogenase 2 Enzyme 6.7E-03 0.595 0.731
STAT1 P42224 signal transducer and activator of transcription 1 Nucleic acid binding 1.00 0.399 0.885
CRAT P43155 carnitine O-acetyltransferase Enzyme 9.5E-12 0.656 0.577
EMD P50402 emerin 0.93 0.542 0.731
SLC25A1 P53007 solute carrier family 25 member 1 Transporter 5.9E-02 0.553 0.731