Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 2.5E-45 0.579 0.769
TMEM47 Q9BQJ4 transmembrane protein 47 0.80 0.821 0.154
TCF20 Q9UGU0 transcription factor 20 Transcription factor 1.00 0.644 0.423
TAX1BP3 O14907 Tax1 binding protein 3 5.2E-03 0.716 0.615
SHANK2 Q9UPX8 SH3 and multiple ankyrin repeat domains 2 8.4E-07 0.663 0.385
SDHA P31040 succinate dehydrogenase complex flavoprotein subunit A Enzyme 2.6E-10 0.517 0.731
SCAPER Q9BY12 S-phase cyclin A associated protein in the ER 8.8E-03 0.653 0.500
RAI1 Q7Z5J4 retinoic acid induced 1 Transcription factor 1.00 0.545 0.731
PUF60 Q9UHX1 poly(U) binding splicing factor 60 1.00 0.536 0.769
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
PHIP Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 1.00 0.595 0.769
P2RX5-TAX1BP3 P2RX5-TAX1BP3 readthrough (NMD candidate) 0.588 0.769
MTFMT Q96DP5 mitochondrial methionyl-tRNA formyltransferase Enzyme 1.5E-07 0.595 0.808
MITF O75030 melanocyte inducing transcription factor 0.98 0.499 0.808
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
MED13 Q9UHV7 mediator complex subunit 13 1.00 0.711 0.538
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MAGED2 Q9UNF1 MAGE family member D2 Cell adhesion 1.00 0.691 0.462
LAMA1 P25391 laminin subunit alpha 1 3.2E-32 0.582 0.808
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
KIF5B P33176 kinesin family member 5B Cellular structure 0.99 0.604 0.538
IRAK1BP1 Q5VVH5 interleukin 1 receptor associated kinase 1 binding protein 1 1.4E-06 0.780 0.346
HIVEP1 P15822 HIVEP zinc finger 1 1.00 0.711 0.500
GNB5 O14775 G protein subunit beta 5 Enzyme 6.4E-08 0.736 0.308