Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462 37 3
AGTPBP1 Q9UPW5 ATP/GTP binding protein 1 Enzyme 0.42 0.650 0.538 25 10
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846 47 14
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846 93 79
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808 52 22
ASXL2 Q76L83 ASXL transcriptional regulator 2 1.00 0.617 0.692 43 6
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769 73 10
CACNA1C Q13936 calcium voltage-gated channel subunit alpha1 C Ion channel 1.00 0.510 0.846 37 14
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808 40 115
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885 70 52
DNAH11 Q96DT5 dynein axonemal heavy chain 11 Enzyme 2.5E-58 0.587 0.692 39 55
EARS2 Q5JPH6 glutamyl-tRNA synthetase 2, mitochondrial Enzyme 1.1E-08 0.666 0.538 11 9
ECEL1 O95672 endothelin converting enzyme like 1 Enzyme 4.8E-13 0.638 0.308 15 20
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846 137 1044
FBN2 P35556 fibrillin 2 Calcium-binding protein 1.00 0.505 0.808 27 25
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808 82 76
HNRNPK P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 1.00 0.539 0.846 70 13
KCNQ1 P51787 potassium voltage-gated channel subfamily Q member 1 Ion channel 4.5E-08 0.485 0.769 46 163
KCTD7 Q96MP8 potassium channel tetramerization domain containing 7 Enzyme modulator 6.3E-04 0.650 0.423 24 13
KLHL7 Q8IXQ5 kelch like family member 7 4.6E-05 0.581 0.731 31 13
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885 61 61
KMT2B Q9UMN6 lysine methyltransferase 2B 1.00 0.529 0.808 70 16
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654 91 14
MPP4 Q96JB8 membrane palmitoylated protein 4 Enzyme 3.4E-18 0.792 0.308 7 1