Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PTCH1 Q13635 patched 1 1.00 0.398 0.885
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
SCN8A Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 1.00 0.510 0.731
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731
UNC80 Q8N2C7 unc-80 homolog, NALCN channel complex subunit 5.2E-02 0.626 0.462
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
TRIP12 Q14669 thyroid hormone receptor interactor 12 1.00 0.678 0.462
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
ROGDI Q9GZN7 rogdi atypical leucine zipper 2.6E-09 0.663 0.462
TCF4 P15884 transcription factor 4 Transcription factor 1.00 0.464 0.846
NAGLU P54802 N-acetyl-alpha-glucosaminidase 1.4E-08 0.546 0.769
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
PRMT7 Q9NVM4 protein arginine methyltransferase 7 Epigenetic regulator 5.5E-15 0.674 0.538
FOXP1 Q9H334 forkhead box P1 1.00 0.460 0.808
CSTB P04080 cystatin B Enzyme modulator 6.6E-03 0.530 0.692
ITPR1 Q14643 inositol 1,4,5-trisphosphate receptor type 1 Ion channel 1.00 0.534 0.846
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
AHDC1 Q5TGY3 AT-hook DNA binding motif containing 1 1.00 0.700 0.500
MED25 Q71SY5 mediator complex subunit 25 Transcription factor 8.4E-07 0.582 0.654