Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
CACNA1C Q13936 calcium voltage-gated channel subunit alpha1 C Ion channel 1.00 0.510 0.846
CAMK2B Q13554 calcium/calmodulin dependent protein kinase II beta Kinase 0.74 0.626 0.538
COL6A1 P12109 collagen type VI alpha 1 chain Receptor 1.00 0.587 0.731
COL17A1 Q9UMD9 collagen type XVII alpha 1 chain 2.3E-27 0.545 0.769
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731
EFL1 Q7Z2Z2 elongation factor like GTPase 1 Enzyme 5.1E-08 0.638 0.577
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
H3-3A P84243 H3.3 histone A 0.12 0.559 0.692
HMBS P08397 hydroxymethylbilane synthase Enzyme 0.95 0.559 0.731
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
IRAK1BP1 Q5VVH5 interleukin 1 receptor associated kinase 1 binding protein 1 1.4E-06 0.780 0.346
KANSL1 Q7Z3B3 KAT8 regulatory NSL complex subunit 1 1.00 0.592 0.731
KMT2E Q8IZD2 lysine methyltransferase 2E 1.00 0.682 0.423
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
MITF O75030 melanocyte inducing transcription factor 0.98 0.499 0.808
MIPEP Q99797 mitochondrial intermediate peptidase Enzyme 1.6E-15 0.666 0.615
MAP2K1 Q02750 mitogen-activated protein kinase kinase 1 Kinase 0.90 0.439 0.846
PHIP Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 1.00 0.595 0.769