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: 6329
Gene Symbol: SCN4A
SCN4A 		P35499 sodium voltage-gated channel alpha subunit 4 Ion channel 44 0.554 0.731 1.3E-02 0.100 None 1.000 2 2 2004 2008
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: 84617
Gene Symbol: TUBB6
TUBB6 		Q9BUF5 tubulin beta 6 class V Cellular structure 32 0.686 0.462 1.7E-04 0.100 None 1.000 1 1 2010 2010
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2 		Q9Y4W6 AFG3 like matrix AAA peptidase subunit 2 Enzyme 33 0.588 0.462 5.3E-09 0.100 None 1.000 1 1 2010 2010
Entrez Id: 7287
Gene Symbol: TULP1
TULP1 		O00294 TUB like protein 1 19 0.623 0.462 5.7E-04 0.100 None 1.000 1 1 2017 2017
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		RNA, U4atac small nuclear (U12-dependent splicing) 24 0.556 0.808 0.100 None 0 2
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1 		Q9NZC9 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 15 0.599 0.654 2.3E-06 0.100 None 0 2
Entrez Id: 54870
Gene Symbol: QRICH1
QRICH1 		Q2TAL8 glutamine rich 1 Enzyme modulator 34 0.716 0.423 1.00 0.100 None 0 1
Entrez Id: 56052
Gene Symbol: ALG1
ALG1 		Q9BT22 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase Enzyme 36 0.610 0.808 3.6E-19 0.100 None 0 3
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 54 0.505 0.769 1.00 0.100 None 0 1
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		Q09428 ATP binding cassette subfamily C member 8 Transporter 32 0.474 0.846 8.0E-24 0.100 None 0 2
Entrez Id: 79631
Gene Symbol: EFL1
EFL1 		Q7Z2Z2 elongation factor like GTPase 1 Enzyme 19 0.638 0.577 5.1E-08 0.100 None 0 1
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12 		Q14669 thyroid hormone receptor interactor 12 46 0.678 0.462 1.00 0.100 None 0 1
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK 		P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 70 0.539 0.846 1.00 0.100 None 0 1
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2 		Q8WXX7 activator of transcription and developmental regulator AUTS2 36 0.569 0.846 1.00 0.100 None 0 1
Entrez Id: 25839
Gene Symbol: COG4
COG4 		Q9H9E3 component of oligomeric golgi complex 4 32 0.631 0.615 4.0E-09 0.100 None 0 1
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24 		O75844 zinc metallopeptidase STE24 Enzyme 31 0.517 0.731 8.9E-16 0.100 None 0 1
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		Q9Y6A1 protein O-mannosyltransferase 1 22 0.525 0.615 4.2E-17 0.100 None 0 1
Entrez Id: 10847
Gene Symbol: SRCAP
SRCAP 		Q6ZRS2 Snf2 related CREBBP activator protein 57 0.610 0.731 1.00 0.100 None 0 1
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		P35222 catenin beta 1 70 0.303 0.885 1.00 0.100 None 0 1
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X 		O00571 DEAD-box helicase 3 X-linked 54 0.537 0.769 1.00 0.100 None 0 1
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1 		Q8IXJ9 ASXL transcriptional regulator 1 52 0.482 0.808 1.3E-14 0.100 None 0 1
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7 		Q9UBM7 7-dehydrocholesterol reductase Enzyme 34 0.500 0.846 3.9E-13 0.100 None 0 2
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 79 0.533 0.769 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