Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
HEATR4 Q86WZ0 HEAT repeat containing 4 1.4E-29
TMEM186 Q96B77 transmembrane protein 186 5.2E-05 1.000 0.077
ACOT1 Q86TX2 acyl-CoA thioesterase 1 6.4E-05 0.780 0.192
MPP4 Q96JB8 membrane palmitoylated protein 4 Enzyme 3.4E-18 0.792 0.308
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346
IRAK1BP1 Q5VVH5 interleukin 1 receptor associated kinase 1 binding protein 1 1.4E-06 0.780 0.346
PRR12 Q9ULL5 proline rich 12 1.00 0.716 0.385
TBR1 Q16650 T-box brain transcription factor 1 Transcription factor 1.00 0.666 0.385
DIMT1 Q9UNQ2 DIMT1 rRNA methyltransferase and ribosome maturation factor 3.9E-07 0.760 0.385
MAST1 Q9Y2H9 microtubule associated serine/threonine kinase 1 Kinase 1.00 0.711 0.385
QRICH1 Q2TAL8 glutamine rich 1 Enzyme modulator 1.00 0.716 0.423
EXOSC9 Q06265 exosome component 9 Enzyme 1.8E-11 0.705 0.423
KMT2E Q8IZD2 lysine methyltransferase 2E 1.00 0.682 0.423
TCF20 Q9UGU0 transcription factor 20 Transcription factor 1.00 0.644 0.423
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
MORC2 Q9Y6X9 MORC family CW-type zinc finger 2 1.00 0.626 0.462
UBTF P17480 upstream binding transcription factor 1.00 0.705 0.462
KCNB1 Q14721 potassium voltage-gated channel subfamily B member 1 Ion channel 1.00 0.650 0.462
KCNQ3 O43525 potassium voltage-gated channel subfamily Q member 3 Ion channel 0.80 0.604 0.462
SYN3 O14994 synapsin III Cellular structure 1.9E-03 0.686 0.462
CAMK2G Q13555 calcium/calmodulin dependent protein kinase II gamma Kinase 1.00 0.670 0.462
ATP5F1D P30049 ATP synthase F1 subunit delta Transporter 7.4E-02 0.674 0.500
DHX30 Q7L2E3 DExH-box helicase 30 Enzyme 1.00 0.722 0.500
MPDU1 O75352 mannose-P-dolichol utilization defect 1 1.0E-05 0.682 0.500