Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABL1 P00519 ABL proto-oncogene 1, non-receptor tyrosine kinase Kinase 1.00 0.432 0.923
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
CCDC65 Q8IXS2 coiled-coil domain containing 65 5.8E-11 0.674 0.500
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
DMD P11532 dystrophin 1.00 0.423 0.923
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
FUCA1 P04066 alpha-L-fucosidase 1 2.7E-08 0.623 0.577
GNAQ P50148 G protein subunit alpha q Enzyme modulator 0.98 0.516 0.808
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
KAT6A Q92794 lysine acetyltransferase 6A Enzyme 1.00 0.560 0.769
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
MORC2 Q9Y6X9 MORC family CW-type zinc finger 2 1.00 0.626 0.462
NACC1 Q96RE7 nucleus accumbens associated 1 1.00 0.610 0.577
OBSL1 O75147 obscurin like cytoskeletal adaptor 1 1.0E-25 0.686 0.308
PALB2 Q86YC2 partner and localizer of BRCA2 3.0E-19 0.485 0.769
PTCH1 Q13635 patched 1 1.00 0.398 0.885
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
RAD51 Q06609 RAD51 recombinase 2.7E-02 0.447 0.846
RALA P11233 RAS like proto-oncogene A Enzyme modulator 0.97 0.656 0.577