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: 80816
Gene Symbol: ASXL3
ASXL3 		Q9C0F0 ASXL transcriptional regulator 3 77 0.590 0.577 1.00 0.100 None 1.000 1 1 2016 2016
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 1 2019 2019
Entrez Id: 10847
Gene Symbol: SRCAP
SRCAP 		Q6ZRS2 Snf2 related CREBBP activator protein 57 0.610 0.731 1.00 0.100 None 0 1
Entrez Id: 2201
Gene Symbol: FBN2
FBN2 		P35556 fibrillin 2 Calcium-binding protein 27 0.505 0.808 1.00 0.100 None 0 1
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		P21802 fibroblast growth factor receptor 2 Kinase 82 0.380 0.808 1.00 0.100 None 0 1
Entrez Id: 7486
Gene Symbol: WRN
WRN 		Q14191 WRN RecQ like helicase Enzyme 8 0.524 0.808 2.6E-34 0.100 None 0 1
Entrez Id: 79644
Gene Symbol: SRD5A3
SRD5A3 		Q9H8P0 steroid 5 alpha-reductase 3 41 0.604 0.692 2.5E-04 0.100 None 0 1
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1 		Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 76 0.460 0.808 1.00 0.100 None 0 1