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: 51412
Gene Symbol: ACTL6B
ACTL6B 		O94805 actin like 6B Cellular structure 37 0.656 0.462 2.8E-04 0.100 None 1.000 1 1 2019 2019
Entrez Id: 25
Gene Symbol: ABL1
ABL1 		P00519 ABL proto-oncogene 1, non-receptor tyrosine kinase Kinase 30 0.432 0.923 1.00 0.100 None 1.000 1 1 2017 2017
Entrez Id: 6872
Gene Symbol: TAF1
TAF1 		P21675 TATA-box binding protein associated factor 1 Kinase 18 0.581 0.808 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: 6792
Gene Symbol: CDKL5
CDKL5 		O76039 cyclin dependent kinase like 5 Kinase 37 0.522 0.692 1.00 0.100 None 0 1
Entrez Id: 55904
Gene Symbol: KMT2E
KMT2E 		Q8IZD2 lysine methyltransferase 2E 18 0.682 0.423 1.00 0.100 None 0 1
Entrez Id: 51633
Gene Symbol: OTUD6B
OTUD6B 		Q8N6M0 OTU deubiquitinase 6B Enzyme 25 0.659 0.538 1.3E-07 0.100 None 0 2
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: 473
Gene Symbol: RERE
RERE 		Q9P2R6 arginine-glutamic acid dipeptide repeats 18 0.526 0.846 1.00 0.100 None 0 1
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU 		P54802 N-acetyl-alpha-glucosaminidase 32 0.546 0.769 1.4E-08 0.100 None 0 2
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: 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: 1654
Gene Symbol: DDX3X
DDX3X 		O00571 DEAD-box helicase 3 X-linked 54 0.537 0.769 1.00 0.100 None 0 2
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 59 0.584 0.577 1.00 0.100 None 0 1