Source: CLINVAR ×
Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 65109
Gene Symbol: UPF3B
UPF3B 		Q9BZI7 UPF3B regulator of nonsense mediated mRNA decay 6 0.619 0.615 0.98 0.100 None 1.000 3 1 2007 2012
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		Q8NFD5 AT-rich interaction domain 1B 93 0.503 0.846 1.00 0.100 None 1.000 2 1 2012 2015
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9 		O60706 ATP binding cassette subfamily C member 9 Transporter 19 0.552 0.692 9.4E-09 0.100 None 1.000 1 1 2016 2016
Entrez Id: 8621
Gene Symbol: CDK13
CDK13 		Q14004 cyclin dependent kinase 13 Kinase 100 0.606 0.692 0.91 0.100 None 1.000 1 1 2017 2017
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1 		Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 61 0.547 0.769 1.00 0.100 None 0 2
Entrez Id: 57498
Gene Symbol: KIDINS220
KIDINS220 		Q9ULH0 kinase D interacting substrate 220 11 0.534 0.769 7.4E-02 0.100 None 0 1
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		Q06124 protein tyrosine phosphatase non-receptor type 11 153 0.385 0.923 1.00 0.100 None 0 1
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 81 0.534 0.769 1.00 0.100 None 0 1
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 62 0.485 0.808 1.00 0.100 None 0 1
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 125 0.319 0.846 1.00 0.100 None 0 1
Entrez Id: 6925
Gene Symbol: TCF4
TCF4 		P15884 transcription factor 4 Transcription factor 34 0.464 0.846 1.00 0.100 None 0 1
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A 		P05549 transcription factor AP-2 alpha Transcription factor 37 0.488 0.769 0.99 0.100 None 0 1
Entrez Id: 79228
Gene Symbol: THOC6
THOC6 		Q86W42 THO complex 6 14 0.705 0.577 4.8E-04 0.100 None 0 2
Entrez Id: 7994
Gene Symbol: KAT6A
KAT6A 		Q92794 lysine acetyltransferase 6A Enzyme 18 0.560 0.769 1.00 0.100 None 0 1
Entrez Id: 84231
Gene Symbol: TRAF7
TRAF7 		Q6Q0C0 TNF receptor associated factor 7 33 0.623 0.423 2.2E-02 0.100 None 0 1
Entrez Id: 101929328
Gene Symbol: KCNMA1-AS1
KCNMA1-AS1 		KCNMA1 antisense RNA 1 37 0.705 0.654 0.100 None 0 1
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2 		Q76L83 ASXL transcriptional regulator 2 43 0.617 0.692 1.00 0.100 None 0 1
Entrez Id: 51322
Gene Symbol: WAC
WAC 		Q9BTA9 WW domain containing adaptor with coiled-coil 20 0.686 0.615 1.00 0.100 None 0 1
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		P22607 fibroblast growth factor receptor 3 Kinase 60 0.391 0.846 1.6E-05 0.100 None 0 1
Entrez Id: 23036
Gene Symbol: ZNF292
ZNF292 		O60281 zinc finger protein 292 Enzyme 26 0.695 0.423 1.00 0.100 None 0 1
Entrez Id: 2318
Gene Symbol: FLNC
FLNC 		Q14315 filamin C 18 0.568 0.615 1.00 0.100 None 0 1
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		Q8WYB5 lysine acetyltransferase 6B Enzyme 26 0.525 0.731 1.00 0.100 None 0 1
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1 		Q7Z3B3 KAT8 regulatory NSL complex subunit 1 17 0.592 0.731 1.00 0.100 None 0 1
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B 		Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 48 0.510 0.692 1.00 0.100 None 0 1
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11 		Q6UB99 ankyrin repeat domain 11 63 0.556 0.808 1.00 0.100 None 0 1