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: 6654
Gene Symbol: SOS1
SOS1 		Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 62 0.485 0.808 1.00 0.100 None 1.000 5 1 2007 2011
Entrez Id: 2548
Gene Symbol: GAA
GAA 		P10253 glucosidase alpha, acid Enzyme 18 0.631 0.577 2.8E-18 0.100 None 1.000 1 1 2015 2015
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1 		Q8IXJ9 ASXL transcriptional regulator 1 52 0.482 0.808 1.3E-14 0.100 None 0 1
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 54 0.505 0.769 1.00 0.100 None 0 1
Entrez Id: 55670
Gene Symbol: PEX26
PEX26 		Q7Z412 peroxisomal biogenesis factor 26 15 0.584 0.615 0.93 0.100 None 0 1
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK 		P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 70 0.539 0.846 1.00 0.100 None 0 1
Entrez Id: 25980
Gene Symbol: AAR2
AAR2 		Q9Y312 AAR2 splicing factor 8 0.839 0.192 8.3E-06 0.100 None 0 1
Entrez Id: 23394
Gene Symbol: ADNP
ADNP 		Q9H2P0 activity dependent neuroprotector homeobox 39 0.561 0.808 1.00 0.100 None 0 1
Entrez Id: 2318
Gene Symbol: FLNC
FLNC 		Q14315 filamin C 18 0.568 0.615 1.00 0.100 None 0 1
Entrez Id: 2259
Gene Symbol: FGF14
FGF14 		Q92915 fibroblast growth factor 14 Signaling 19 0.619 0.692 0.91 0.100 None 0 1
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ 		Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 54 0.610 0.577 1.4E-06 0.100 None 0 1