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: 6513
Gene Symbol: SLC2A1
SLC2A1 		P11166 solute carrier family 2 member 1 Transporter 34 0.388 0.808 0.99 0.440 strong 1.000 3 3 2000 2019
Entrez Id: 2782
Gene Symbol: GNB1
GNB1 		P62873 G protein subunit beta 1 Enzyme 34 0.617 0.731 1.00 0.420 strong 1.000 1 9 2016 2019
Entrez Id: 23334
Gene Symbol: SZT2
SZT2 		Q5T011 SZT2 subunit of KICSTOR complex 10 0.670 0.423 2.3E-14 0.420 limited 1.000 0 2 2013 2019
Entrez Id: 57178
Gene Symbol: ZMIZ1
ZMIZ1 		Q9ULJ6 zinc finger MIZ-type containing 1 7 0.588 0.615 1.00 0.410 None 1.000 1 1 2015 2019
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B 		O94805 actin like 6B Cellular structure 37 0.656 0.462 2.8E-04 0.410 strong 1.000 1 3 2019 2019
Entrez Id: 84231
Gene Symbol: TRAF7
TRAF7 		Q6Q0C0 TNF receptor associated factor 7 33 0.623 0.423 2.2E-02 0.410 None 1.000 0 1 2015 2018
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C 		P41229 lysine demethylase 5C 12 0.581 0.538 1.00 0.410 None 1.000 0 1 2008 2016
Entrez Id: 55904
Gene Symbol: KMT2E
KMT2E 		Q8IZD2 lysine methyltransferase 2E 18 0.682 0.423 1.00 0.410 strong 1.000 0 1 2019 2019
Entrez Id: 7701
Gene Symbol: ZNF142
ZNF142 		P52746 zinc finger protein 142 Transcription factor 5 0.861 0.192 4.8E-16 0.400 strong 1.000 1 3 2019 2019
Entrez Id: 9024
Gene Symbol: BRSK2
BRSK2 		Q8IWQ3 BR serine/threonine kinase 2 Kinase 16 0.700 0.500 0.95 0.400 strong 1.000 1 2 2017 2019
Entrez Id: 7343
Gene Symbol: UBTF
UBTF 		P17480 upstream binding transcription factor 13 0.705 0.462 1.00 0.400 limited 1.000 1 1 2017 2018
Entrez Id: 23162
Gene Symbol: MAPK8IP3
MAPK8IP3 		Q9UPT6 mitogen-activated protein kinase 8 interacting protein 3 Enzyme modulator 8 0.682 0.462 1.00 0.400 strong 1.000 0 1 2017 2017
Entrez Id: 23111
Gene Symbol: SPART
SPART 		Q8N0X7 spartin 8 0.588 0.654 3.0E-07 0.400 moderate 1.000 0 1 2017 2017
Entrez Id: 23221
Gene Symbol: RHOBTB2
RHOBTB2 		Q9BYZ6 Rho related BTB domain containing 2 Enzyme modulator 13 0.631 0.615 1.3E-02 0.400 strong 1.000 0 1 2016 2016
Entrez Id: 1729
Gene Symbol: DIAPH1
DIAPH1 		O60610 diaphanous related formin 1 5 0.623 0.654 0.92 0.400 strong 1.000 0 1 2016 2016
Entrez Id: 9772
Gene Symbol: TMEM94
TMEM94 		Q12767 transmembrane protein 94 73 0.628 0.654 2.8E-14 0.400 strong 1.000 0 2 2018 2018
Entrez Id: 3735
Gene Symbol: KARS1
KARS1 		Q15046 lysyl-tRNA synthetase 1 Enzyme 12 0.636 0.577 4.2E-09 0.400 strong 1.000 0 1 2015 2017
Entrez Id: 116461
Gene Symbol: TSEN15
TSEN15 		Q8WW01 tRNA splicing endonuclease subunit 15 4 0.769 0.115 0.28 0.400 moderate 1.000 0 1 2015 2015
Entrez Id: 81603
Gene Symbol: TRIM8
TRIM8 		Q9BZR9 tripartite motif containing 8 43 0.588 0.731 0.99 0.400 strong 1.000 0 1 2013 2013
Entrez Id: 80036
Gene Symbol: TRPM3
TRPM3 		Q9HCF6 transient receptor potential cation channel subfamily M member 3 Ion channel 4 0.663 0.769 5.7E-07 0.400 moderate 1.000 0 1 2017 2019
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5 		O76039 cyclin dependent kinase like 5 Kinase 37 0.522 0.692 1.00 0.200 None 1.000 0 2 2008 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		P51608 methyl-CpG binding protein 2 Epigenetic regulator 150 0.414 0.846 0.89 0.200 None 1.000 0 5 2002 2017
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		P60484 phosphatase and tensin homolog Enzyme 107 0.305 0.923 0.26 0.180 None 1.000 0 19 2006 2019
Entrez Id: 11152
Gene Symbol: WDR45
WDR45 		Q9Y484 WD repeat domain 45 17 0.647 0.423 0.99 0.160 None 1.000 0 1 2015 2020
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1 		P61764 syntaxin binding protein 1 Transporter 29 0.532 0.692 1.00 0.150 None 1.000 1 4 2010 2019