Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
EMD P50402 emerin 0.93 0.542 0.731
ERCC8 Q13216 ERCC excision repair 8, CSA ubiquitin ligase complex subunit 2.8E-15 0.551 0.885
EPB41L4A Q9HCS5 erythrocyte membrane protein band 4.1 like 4A 3.5E-21 0.890 0.231
EXOSC9 Q06265 exosome component 9 Enzyme 1.8E-11 0.705 0.423
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
GNB1 P62873 G protein subunit beta 1 Enzyme 1.00 0.617 0.731
GATAD2B Q8WXI9 GATA zinc finger domain containing 2B Nucleic acid binding 1.00 0.593 0.654
GMNN O75496 geminin DNA replication inhibitor 0.11 0.554 0.808
GAA P10253 glucosidase alpha, acid Enzyme 2.8E-18 0.631 0.577
GBA P04062 glucosylceramidase beta 1.4E-06 0.500 0.808
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
IGHMBP2 P38935 immunoglobulin mu DNA binding protein 2 3.0E-16 0.636 0.615
IFIH1 Q9BYX4 interferon induced with helicase C domain 1 7.0E-44 0.471 0.808
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
ISCA1 Q9BUE6 iron-sulfur cluster assembly 1 0.17 0.792 0.231
ISCA2 Q86U28 iron-sulfur cluster assembly 2 2.4E-08 0.743 0.231
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
MDH2 P40926 malate dehydrogenase 2 Enzyme 6.7E-03 0.595 0.731
MAN1B1 Q9UKM7 mannosidase alpha class 1B member 1 Chaperone 1.2E-08 0.606 0.577
MIPEP Q99797 mitochondrial intermediate peptidase Enzyme 1.6E-15 0.666 0.615
MFN2 O95140 mitofusin 2 Enzyme 0.99 0.471 0.846
MYBPC1 Q00872 myosin binding protein C1 4.8E-05 0.666 0.462
NPC2 P61916 NPC intracellular cholesterol transporter 2 1.8E-03 0.612 0.769