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
UNC80 Q8N2C7 unc-80 homolog, NALCN channel complex subunit 5.2E-02 0.626 0.462
MORC2 Q9Y6X9 MORC family CW-type zinc finger 2 1.00 0.626 0.462
CCDC65 Q8IXS2 coiled-coil domain containing 65 5.8E-11 0.674 0.500
SLC12A6 Q9UHW9 solute carrier family 12 member 6 Transporter 1.1E-02 0.603 0.500
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
NACC1 Q96RE7 nucleus accumbens associated 1 1.00 0.610 0.577
FUCA1 P04066 alpha-L-fucosidase 1 2.7E-08 0.623 0.577
RALA P11233 RAS like proto-oncogene A Enzyme modulator 0.97 0.656 0.577
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
SIN3A Q96ST3 SIN3 transcription regulator family member A Enzyme 1.00 0.551 0.692
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731
SRCAP Q6ZRS2 Snf2 related CREBBP activator protein 1.00 0.610 0.731
ZBTB20 Q9HC78 zinc finger and BTB domain containing 20 0.97 0.566 0.731
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
TRPS1 Q9UHF7 transcriptional repressor GATA binding 1 1.00 0.537 0.769
PALB2 Q86YC2 partner and localizer of BRCA2 3.0E-19 0.485 0.769
SATB2 Q9UPW6 SATB homeobox 2 Transcription factor 1.00 0.503 0.769
KAT6A Q92794 lysine acetyltransferase 6A Enzyme 1.00 0.560 0.769
TFAP2B Q92481 transcription factor AP-2 beta Transcription factor 0.99 0.570 0.769
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
SOS1 Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 1.00 0.485 0.808