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
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
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
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
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
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
UNC80 Q8N2C7 unc-80 homolog, NALCN channel complex subunit 5.2E-02 0.626 0.462
SOS1 Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 1.00 0.485 0.808
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
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
GNAQ P50148 G protein subunit alpha q Enzyme modulator 0.98 0.516 0.808
DMD P11532 dystrophin 1.00 0.423 0.923
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
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
ABL1 P00519 ABL proto-oncogene 1, non-receptor tyrosine kinase Kinase 1.00 0.432 0.923
RAD51 Q06609 RAD51 recombinase 2.7E-02 0.447 0.846