Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
SCN8A Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 1.00 0.510 0.731
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
KMT2B Q9UMN6 lysine methyltransferase 2B 1.00 0.529 0.808
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
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
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346
PURA Q00577 purine rich element binding protein A Nucleic acid binding 0.94 0.644 0.500
ATM Q13315 ATM serine/threonine kinase Kinase 5.6E-47 0.374 0.885
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
SPG7 Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 2.0E-36 0.436 0.885
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808