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: 4935
Gene Symbol: GPR143
GPR143 		P51810 G protein-coupled receptor 143 G-protein coupled receptor 6 0.659 0.385 0.93 0.440 strong 1.000 0 1 2001 2015
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12 		Q8N2K0 abhydrolase domain containing 12 Enzyme 20 0.666 0.385 1.9E-05 0.400 strong 1.000 1 1 2014 2018
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		P26367 paired box 6 25 0.450 0.769 1.00 0.140 None 1.000 0 1 2000 2014
Entrez Id: 8573
Gene Symbol: CASK
CASK 		O14936 calcium/calmodulin dependent serine protein kinase Kinase 13 0.538 0.808 1.00 0.140 None 1.000 0 2 2010 2017
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3 		Q16281 cyclic nucleotide gated channel subunit alpha 3 Ion channel 11 0.650 0.154 8.0E-20 0.110 None 1.000 0 1 2008 2008
Entrez Id: 3000
Gene Symbol: GUCY2D
GUCY2D 		Q02846 guanylate cyclase 2D, retinal Kinase 11 0.570 0.769 6.5E-10 0.110 None 1.000 0 1 2000 2000
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B 		Q9Y2D4 exocyst complex component 6B Transporter 19 0.682 0.577 0.12 0.100 None 1.000 2 1 2013 2014
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		Q8NFD5 AT-rich interaction domain 1B 93 0.503 0.846 1.00 0.100 None 1.000 2 1 2012 2015
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 45 0.418 0.885 0.85 0.100 None 1.000 2 1 2007 2007
Entrez Id: 576
Gene Symbol: ADGRB2
ADGRB2 		O60241 adhesion G protein-coupled receptor B2 G-protein coupled receptor 8 0.890 0.192 1.00 0.100 None 1.000 1 1 2017 2017
Entrez Id: 2782
Gene Symbol: GNB1
GNB1 		P62873 G protein subunit beta 1 Enzyme 34 0.617 0.731 1.00 0.100 None 1.000 1 2 2016 2016
Entrez Id: 6687
Gene Symbol: SPG7
SPG7 		Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 41 0.436 0.885 2.0E-36 0.100 None 1.000 1 8 2016 2016
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A 		P04350 tubulin beta 4A class IVa Cellular structure 21 0.608 0.615 0.11 0.100 None 1.000 1 1 2014 2014
Entrez Id: 6857
Gene Symbol: SYT1
SYT1 		P21579 synaptotagmin 1 Transporter 12 0.412 0.846 0.60 0.100 None 0 1
Entrez Id: 6573
Gene Symbol: SLC19A1
SLC19A1 		P41440 solute carrier family 19 member 1 Transporter 7 0.523 0.692 6.5E-06 0.100 None 0 1
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		Q9HAN9 nicotinamide nucleotide adenylyltransferase 1 Enzyme 10 0.656 0.269 3.5E-02 0.100 None 0 1
Entrez Id: 6448
Gene Symbol: SGSH
SGSH 		P51688 N-sulfoglucosamine sulfohydrolase Enzyme 24 0.638 0.692 1.0E-04 0.100 None 0 2
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL 		Q9H1B7 interferon regulatory factor 2 binding protein like 97 0.631 0.462 0.84 0.100 None 0 2
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 83 0.510 0.731 1.00 0.100 None 0 1
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 40 0.518 0.731 1.00 0.100 None 0 1
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A 		P05549 transcription factor AP-2 alpha Transcription factor 37 0.488 0.769 0.99 0.100 None 0 1
Entrez Id: 7299
Gene Symbol: TYR
TYR 		P14679 tyrosinase Enzyme 29 0.473 0.808 5.0E-32 0.100 None 0 2
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231 		Q9H6L2 transmembrane protein 231 14 0.554 0.692 3.1E-07 0.100 None 0 1
Entrez Id: 9711
Gene Symbol: RUBCN
RUBCN 		Q92622 rubicon autophagy regulator 7 0.716 0.423 1.4E-13 0.100 None 0 2
Entrez Id: 93627
Gene Symbol: TBCK
TBCK 		Q8TEA7 TBC1 domain containing kinase Kinase 47 0.650 0.654 2.1E-15 0.100 None 0 1