Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
BCS1L Q9Y276 BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 4.7E-13 0.534 0.808
SCN8A Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 1.00 0.510 0.731
PRMT7 Q9NVM4 protein arginine methyltransferase 7 Epigenetic regulator 5.5E-15 0.674 0.538
ZSWIM6 Q9HCJ5 zinc finger SWIM-type containing 6 1.00 0.626 0.577
FOXP1 Q9H334 forkhead box P1 1.00 0.460 0.808
ROGDI Q9GZN7 rogdi atypical leucine zipper 2.6E-09 0.663 0.462
TMEM70 Q9BUB7 transmembrane protein 70 2.9E-02 0.636 0.654
CYFIP2 Q96F07 cytoplasmic FMR1 interacting protein 2 Enzyme modulator 1.00 0.633 0.731
POMGNT1 Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 1.9E-20 0.537 0.538
THOC2 Q8NI27 THO complex 2 Transcription factor 1.00 0.650 0.538
UNC80 Q8N2C7 unc-80 homolog, NALCN channel complex subunit 5.2E-02 0.626 0.462
NALCN Q8IZF0 sodium leak channel, non-selective Ion channel 8.5E-14 0.587 0.615
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
MED25 Q71SY5 mediator complex subunit 25 Transcription factor 8.4E-07 0.582 0.654
AHDC1 Q5TGY3 AT-hook DNA binding motif containing 1 1.00 0.700 0.500
IQSEC2 Q5JU85 IQ motif and Sec7 domain ArfGEF 2 1.00 0.573 0.577
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
TRIP12 Q14669 thyroid hormone receptor interactor 12 1.00 0.678 0.462
ITPR1 Q14643 inositol 1,4,5-trisphosphate receptor type 1 Ion channel 1.00 0.534 0.846
PTCH1 Q13635 patched 1 1.00 0.398 0.885
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731
CAMK2G Q13555 calcium/calmodulin dependent protein kinase II gamma Kinase 1.00 0.670 0.462
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769