Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
FOXP1 Q9H334 forkhead box P1 1.00 0.460 0.808
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808
SOX11 P35716 SRY-box transcription factor 11 Transcription factor 0.86 0.494 0.808
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
SLC9A6 Q92581 solute carrier family 9 member A6 Transporter 1.00 0.516 0.846
SCN2A Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 1.00 0.518 0.731
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
FLG P20930 filaggrin Cellular structure 2.9E-04 0.525 0.846
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
TRPS1 Q9UHF7 transcriptional repressor GATA binding 1 1.00 0.537 0.769
RAI1 Q7Z5J4 retinoic acid induced 1 Transcription factor 1.00 0.545 0.731
NAGLU P54802 N-acetyl-alpha-glucosaminidase 1.4E-08 0.546 0.769
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
COL4A2 P08572 collagen type IV alpha 2 chain 3.6E-15 0.563 0.654