Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
PTCH1 Q13635 patched 1 1.00 0.398 0.885
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
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
UNC80 Q8N2C7 unc-80 homolog, NALCN channel complex subunit 5.2E-02 0.626 0.462
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
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
PALB2 Q86YC2 partner and localizer of BRCA2 3.0E-19 0.485 0.769
DMD P11532 dystrophin 1.00 0.423 0.923
NACC1 Q96RE7 nucleus accumbens associated 1 1.00 0.610 0.577
MORC2 Q9Y6X9 MORC family CW-type zinc finger 2 1.00 0.626 0.462
RAD51 Q06609 RAD51 recombinase 2.7E-02 0.447 0.846
OBSL1 O75147 obscurin like cytoskeletal adaptor 1 1.0E-25 0.686 0.308
FUCA1 P04066 alpha-L-fucosidase 1 2.7E-08 0.623 0.577
ZBTB20 Q9HC78 zinc finger and BTB domain containing 20 0.97 0.566 0.731
CCDC65 Q8IXS2 coiled-coil domain containing 65 5.8E-11 0.674 0.500
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
SIN3A Q96ST3 SIN3 transcription regulator family member A Enzyme 1.00 0.551 0.692
SOS1 Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 1.00 0.485 0.808
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577