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
FUCA1 P04066 alpha-L-fucosidase 1 2.7E-08 0.623 0.577
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
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
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
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
DMD P11532 dystrophin 1.00 0.423 0.923
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
GNAQ P50148 G protein subunit alpha q Enzyme modulator 0.98 0.516 0.808
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
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