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 0.700 strong 1.000 3 4 1998 2018
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 28 0.537 0.654 1.00 0.500 None 1.000 23 16 1984 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		P51608 methyl-CpG binding protein 2 Epigenetic regulator 150 0.414 0.846 0.89 0.500 None 0.923 6 6 2000 2019
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5 		O76039 cyclin dependent kinase like 5 Kinase 37 0.522 0.692 1.00 0.500 None 1.000 0 1 2005 2019
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		P14136 glial fibrillary acidic protein 5 0.421 0.885 1.5E-06 0.460 strong 1.000 0 1 2006 2019
Entrez Id: 1137
Gene Symbol: CHRNA4
CHRNA4 		P43681 cholinergic receptor nicotinic alpha 4 subunit Ion channel 6 0.492 0.808 8.5E-05 0.440 None 1.000 9 1 1999 2019
Entrez Id: 5428
Gene Symbol: POLG
POLG 		P54098 DNA polymerase gamma, catalytic subunit Enzyme 50 0.457 0.846 2.1E-09 0.430 None 1.000 76 11 2001 2019
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		Q14683 structural maintenance of chromosomes 1A 24 0.509 0.808 1.00 0.420 strong 1.000 0 1 2015 2019
Entrez Id: 2782
Gene Symbol: GNB1
GNB1 		P62873 G protein subunit beta 1 Enzyme 34 0.617 0.731 1.00 0.410 strong 1.000 1 8 2015 2016
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B 		Q13620 cullin 4B Enzyme 12 0.556 0.769 1.00 0.410 strong 1.000 0 1 2012 2018
Entrez Id: 26960
Gene Symbol: NBEA
NBEA 		Q8NFP9 neurobeachin 4 0.760 0.538 1.00 0.400 strong 1.000 1 2 2013 2018
Entrez Id: 26235
Gene Symbol: FBXL4
FBXL4 		Q9UKA2 F-box and leucine rich repeat protein 4 12 0.695 0.423 1.1E-08 0.400 strong 1.000 1 1 2016 2017
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		Q9NSU2 three prime repair exonuclease 1 13 0.517 0.808 0.58 0.400 strong 1.000 1 2 2008 2016
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B 		O94805 actin like 6B Cellular structure 37 0.656 0.462 2.8E-04 0.400 strong 1.000 1 1 2019 2019
Entrez Id: 3899
Gene Symbol: AFF3
AFF3 		P51826 AF4/FMR2 family member 3 Transcription factor 8 0.623 0.692 1.00 0.400 None 1.000 0 1 2008 2008
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1 		P02462 collagen type IV alpha 1 chain 25 0.484 0.731 1.00 0.400 strong 1.000 0 1 2007 2007
Entrez Id: 9526
Gene Symbol: MPDU1
MPDU1 		O75352 mannose-P-dolichol utilization defect 1 16 0.682 0.500 1.0E-05 0.400 strong 1.000 0 2 2001 2001
Entrez Id: 93627
Gene Symbol: TBCK
TBCK 		Q8TEA7 TBC1 domain containing kinase Kinase 47 0.650 0.654 2.1E-15 0.400 strong 1.000 0 1 2016 2016
Entrez Id: 57531
Gene Symbol: HACE1
HACE1 		Q8IYU2 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 Enzyme 4 0.601 0.692 6.1E-06 0.400 None 1.000 0 1 2015 2015
Entrez Id: 50801
Gene Symbol: KCNK4
KCNK4 		Q9NYG8 potassium two pore domain channel subfamily K member 4 Ion channel 5 0.743 0.385 5.7E-03 0.400 None 1.000 0 2 2018 2018
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: 23036
Gene Symbol: ZNF292
ZNF292 		O60281 zinc finger protein 292 Enzyme 26 0.695 0.423 1.00 0.400 moderate 1.000 0 1 2018 2018
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: 538
Gene Symbol: ATP7A
ATP7A 		Q04656 ATPase copper transporting alpha Transporter 11 0.494 0.769 1.00 0.400 None 1.000 0 1 2012 2012
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