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: 6334
Gene Symbol: SCN8A
SCN8A
Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 83 0.510 0.731 1.00 0.900 None 0.971 0 1 2007 2020
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 48 0.510 0.692 1.00 0.650 None 0.875 0 1 2004 2018
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 40 0.518 0.731 1.00 0.500 None 0.942 1 1 2003 2019
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
P50993 ATPase Na+/K+ transporting subunit alpha 2 Transporter 13 0.597 0.615 1.8E-04 0.200 None 1.000 1 2 2005 2020
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
P11166 solute carrier family 2 member 1 Transporter 34 0.388 0.808 0.99 0.200 None 0.962 0 1 2003 2019
Entrez Id: 284111
Gene Symbol: SLC13A5
SLC13A5
Q86YT5 solute carrier family 13 member 5 Transporter 5 0.608 0.577 5.1E-04 0.150 None 1.000 0 1 2015 2018
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 44 0.544 0.615 1.00 0.130 None 1.000 0 1 2015 2019
Entrez Id: 4548
Gene Symbol: MTR
MTR
Q99707 5-methyltetrahydrofolate-homocysteine methyltransferase 5 0.482 0.808 2.4E-12 0.130 None 1.000 0 1 2008 2018
Entrez Id: 57094
Gene Symbol: CPA6
CPA6
Q8N4T0 carboxypeptidase A6 Enzyme 11 0.716 0.346 4.4E-17 0.120 None 1.000 0 1 2012 2015
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
Q8TEA7 TBC1 domain containing kinase Kinase 47 0.650 0.654 2.1E-15 0.110 None 1.000 0 1 2018 2018
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
P16473 thyroid stimulating hormone receptor G-protein coupled receptor 9 0.486 0.808 3.0E-15 0.110 None 1.000 0 1 2019 2019
Entrez Id: 22884
Gene Symbol: WDR37
WDR37
Q9Y2I8 WD repeat domain 37 8 0.751 0.231 0.57 0.110 None 1.000 0 1 2019 2019
Entrez Id: 4514
Gene Symbol: COX3
COX3
P00414 cytochrome c oxidase III Enzyme 10 0.546 0.808 0.100 None 1.000 1 1 2017 2017
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
P50542 peroxisomal biogenesis factor 5 Transporter 11 0.561 0.731 5.6E-05 0.100 None 1.000 1 1 2015 2015
Entrez Id: 582
Gene Symbol: BBS1
BBS1
Q8NFJ9 Bardet-Biedl syndrome 1 29 0.593 0.692 3.4E-12 0.100 None 0 1
Entrez Id: 8785
Gene Symbol: MATN4
MATN4
O95460 matrilin 4 Receptor 6 0.769 0.308 1.1E-08 0.100 None 0 1
Entrez Id: 9354
Gene Symbol: UBE4A
UBE4A
Q14139 ubiquitination factor E4A Enzyme modulator 3 0.729 0.308 0.11 0.100 None 0 1
Entrez Id: 56131
Gene Symbol: PCDHB4
PCDHB4
Q9Y5E5 protocadherin beta 4 3 0.931 0.077 7.0E-12 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: 54617
Gene Symbol: INO80
INO80
Q9ULG1 INO80 complex ATPase subunit 3 0.751 0.385 1.00 0.100 None 0 2
Entrez Id: 112714
Gene Symbol: TUBA3E
TUBA3E
Q6PEY2 tubulin alpha 3e Cellular structure 4 0.861 0.115 2.0E-08 0.100 None 0 1
Entrez Id: 113246
Gene Symbol: C12orf57
C12orf57
Q99622 chromosome 12 open reading frame 57 10 0.641 0.500 5.2E-05 0.100 None 0 1
Entrez Id: 116461
Gene Symbol: TSEN15
TSEN15
Q8WW01 tRNA splicing endonuclease subunit 15 4 0.769 0.115 0.28 0.100 None 0 1
Entrez Id: 127343
Gene Symbol: DMBX1
DMBX1
Q8NFW5 diencephalon/mesencephalon homeobox 1 6 0.780 0.115 0.93 0.100 None 0 1
Entrez Id: 145508
Gene Symbol: CEP128
CEP128
Q6ZU80 centrosomal protein 128 4 0.780 0.423 4.7E-23 0.100 None 0 1