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: 23389
Gene Symbol: MED13L
MED13L 		Q71F56 mediator complex subunit 13L 30 0.617 0.538 1.00 0.120 None 1.000 0 2 2015 2019
Entrez Id: 6942
Gene Symbol: TCF20
TCF20 		Q9UGU0 transcription factor 20 Transcription factor 18 0.644 0.423 1.00 0.110 None 1.000 0 2 2014 2014
Entrez Id: 4286
Gene Symbol: MITF
MITF 		O75030 melanocyte inducing transcription factor 25 0.499 0.808 0.98 0.100 None 1.000 4 1 2011 2016
Entrez Id: 7552
Gene Symbol: ZNF711
ZNF711 		Q9Y462 zinc finger protein 711 4 0.691 0.423 0.98 0.100 None 1.000 2 1 2009 2017
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2 		Q5JU85 IQ motif and Sec7 domain ArfGEF 2 10 0.573 0.577 1.00 0.100 None 1.000 1 1 2016 2016
Entrez Id: 26960
Gene Symbol: NBEA
NBEA 		Q8NFP9 neurobeachin 4 0.760 0.538 1.00 0.100 None 1.000 1 2 2018 2018
Entrez Id: 2186
Gene Symbol: BPTF
BPTF 		Q12830 bromodomain PHD finger transcription factor 73 0.560 0.769 1.00 0.100 None 1.000 1 1 2017 2017
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1 		P55316 forkhead box G1 46 0.522 0.692 0.94 0.100 None 1.000 1 2 2016 2016
Entrez Id: 5898
Gene Symbol: RALA
RALA 		P11233 RAS like proto-oncogene A Enzyme modulator 6 0.656 0.577 0.97 0.100 None 1.000 1 1 2018 2018
Entrez Id: 49855
Gene Symbol: SCAPER
SCAPER 		Q9BY12 S-phase cyclin A associated protein in the ER 13 0.653 0.500 8.8E-03 0.100 None 1.000 1 3 2017 2017
Entrez Id: 3708
Gene Symbol: ITPR1
ITPR1 		Q14643 inositol 1,4,5-trisphosphate receptor type 1 Ion channel 18 0.534 0.846 1.00 0.100 None 1.000 1 1 2018 2018
Entrez Id: 9024
Gene Symbol: BRSK2
BRSK2 		Q8IWQ3 BR serine/threonine kinase 2 Kinase 16 0.700 0.500 0.95 0.100 None 1.000 1 2 2019 2019
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8 		Q9BY41 histone deacetylase 8 Epigenetic regulator 35 0.511 0.885 0.98 0.100 None 0 1
Entrez Id: 51111
Gene Symbol: KMT5B
KMT5B 		Q4FZB7 lysine methyltransferase 5B Epigenetic regulator 8 0.736 0.423 1.00 0.100 None 0 1
Entrez Id: 5813
Gene Symbol: PURA
PURA 		Q00577 purine rich element binding protein A Nucleic acid binding 47 0.644 0.500 0.94 0.100 None 0 1
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		Q8NFD5 AT-rich interaction domain 1B 93 0.503 0.846 1.00 0.100 None 0 4
Entrez Id: 523
Gene Symbol: ATP6V1A
ATP6V1A 		P38606 ATPase H+ transporting V1 subunit A Transporter 15 0.579 0.615 0.87 0.100 None 0 1
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		O15305 phosphomannomutase 2 Enzyme 43 0.535 0.769 1.4E-17 0.100 None 0 1
Entrez Id: 5746
Gene Symbol: PTH2R
PTH2R 		P49190 parathyroid hormone 2 receptor G-protein coupled receptor 5 0.780 0.308 1.4E-20 0.100 None 0 1
Entrez Id: 57231
Gene Symbol: SNX14
SNX14 		Q9Y5W7 sorting nexin 14 Enzyme modulator 9 0.659 0.423 6.1E-17 0.100 None 0 2
Entrez Id: 5528
Gene Symbol: PPP2R5D
PPP2R5D 		Q14738 protein phosphatase 2 regulatory subunit B'delta Enzyme 7 0.722 0.462 1.00 0.100 None 0 1
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA 		Q08209 protein phosphatase 3 catalytic subunit alpha 31 0.568 0.769 1.00 0.100 None 0 1
Entrez Id: 55835
Gene Symbol: CENPJ
CENPJ 		Q9HC77 centromere protein J Enzyme 10 0.546 0.846 2.1E-27 0.100 None 0 2
Entrez Id: 57178
Gene Symbol: ZMIZ1
ZMIZ1 		Q9ULJ6 zinc finger MIZ-type containing 1 7 0.588 0.615 1.00 0.100 None 0 1
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 39 0.477 0.808 1.00 0.100 None 0 2