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: 51053
Gene Symbol: GMNN
GMNN 		O75496 geminin DNA replication inhibitor 39 0.554 0.808 0.11 0.100 None 1.000 1 1 2015 2015
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: 2475
Gene Symbol: MTOR
MTOR 		P42345 mechanistic target of rapamycin kinase Kinase 86 0.343 0.885 1.00 0.100 None 1.000 1 1 2016 2016
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1 		P78357 contactin associated protein 1 65 0.554 0.577 3.4E-05 0.100 None 1.000 1 1 2017 2017
Entrez Id: 8621
Gene Symbol: CDK13
CDK13 		Q14004 cyclin dependent kinase 13 Kinase 100 0.606 0.692 0.91 0.100 None 1.000 1 1 2017 2017