Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
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
CCDC65 Q8IXS2 coiled-coil domain containing 65 5.8E-11 0.674 0.500
FUCA1 P04066 alpha-L-fucosidase 1 2.7E-08 0.623 0.577
SLC12A6 Q9UHW9 solute carrier family 12 member 6 Transporter 1.1E-02 0.603 0.500
RAD51 Q06609 RAD51 recombinase 2.7E-02 0.447 0.846
UNC80 Q8N2C7 unc-80 homolog, NALCN channel complex subunit 5.2E-02 0.626 0.462
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
SOX4 Q06945 SRY-box transcription factor 4 Transcription factor 0.93 0.489 0.808
RALA P11233 RAS like proto-oncogene A Enzyme modulator 0.97 0.656 0.577
ZBTB20 Q9HC78 zinc finger and BTB domain containing 20 0.97 0.566 0.731
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
GNAQ P50148 G protein subunit alpha q Enzyme modulator 0.98 0.516 0.808
TFAP2B Q92481 transcription factor AP-2 beta Transcription factor 0.99 0.570 0.769
NACC1 Q96RE7 nucleus accumbens associated 1 1.00 0.610 0.577
SLC9A6 Q92581 solute carrier family 9 member A6 Transporter 1.00 0.516 0.846
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
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
ABL1 P00519 ABL proto-oncogene 1, non-receptor tyrosine kinase Kinase 1.00 0.432 0.923
MORC2 Q9Y6X9 MORC family CW-type zinc finger 2 1.00 0.626 0.462
SATB2 Q9UPW6 SATB homeobox 2 Transcription factor 1.00 0.503 0.769
PTCH1 Q13635 patched 1 1.00 0.398 0.885
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769