Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885
TTN-AS1 TTN antisense RNA 1 0.599 0.577
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
TMEM94 Q12767 transmembrane protein 94 2.8E-14 0.628 0.654
HNRNPK P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 1.00 0.539 0.846
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
SOS1 Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 1.00 0.485 0.808
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846
SCN4A P35499 sodium voltage-gated channel alpha subunit 4 Ion channel 1.3E-02 0.554 0.731
RIT1 Q92963 Ras like without CAAX 1 Enzyme modulator 0.13 0.527 0.808
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
TBX2 Q13207 T-box transcription factor 2 Transcription factor 0.99 0.544 0.769
DMD P11532 dystrophin 1.00 0.423 0.923
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
ABCC8 Q09428 ATP binding cassette subfamily C member 8 Transporter 8.0E-24 0.474 0.846
ABL1 P00519 ABL proto-oncogene 1, non-receptor tyrosine kinase Kinase 1.00 0.432 0.923
HAAO P46952 3-hydroxyanthranilate 3,4-dioxygenase 1.1E-08 0.644 0.538
STIM1 Q13586 stromal interaction molecule 1 0.78 0.501 0.808
RAD51 Q06609 RAD51 recombinase 2.7E-02 0.447 0.846
DIPK1A Q5T7M9 divergent protein kinase domain 1A 0.58 0.743 0.423
RPL5 P46777 ribosomal protein L5 Nucleic acid binding 1.00 0.617 0.615
MYRF Q9Y2G1 myelin regulatory factor 1.00 0.584 0.731
RERE Q9P2R6 arginine-glutamic acid dipeptide repeats 1.00 0.526 0.846
KANSL1 Q7Z3B3 KAT8 regulatory NSL complex subunit 1 1.00 0.592 0.731