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: 57492
Gene Symbol: ARID1B
ARID1B 		Q8NFD5 AT-rich interaction domain 1B 93 0.503 0.846 1.00 0.130 None 1.000 0 1 2012 2013
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: 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 1 2019 2019
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X 		O00571 DEAD-box helicase 3 X-linked 54 0.537 0.769 1.00 0.100 None 0 1
Entrez Id: 2629
Gene Symbol: GBA
GBA 		P04062 glucosylceramidase beta 33 0.500 0.808 1.4E-06 0.100 None 0 1
Entrez Id: 84100
Gene Symbol: ARL6
ARL6 		Q9H0F7 ADP ribosylation factor like GTPase 6 13 0.636 0.462 1.0E-02 0.100 None 0 1