Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
STAT1 P42224 signal transducer and activator of transcription 1 Nucleic acid binding 1.00 0.399 0.885
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
SLC6A3 Q01959 solute carrier family 6 member 3 Transporter 1.00 0.453 0.885
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
IFIH1 Q9BYX4 interferon induced with helicase C domain 1 7.0E-44 0.471 0.808
MFN2 O95140 mitofusin 2 Enzyme 0.99 0.471 0.846
GBA P04062 glucosylceramidase beta 1.4E-06 0.500 0.808
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
SLC26A4 O43511 solute carrier family 26 member 4 Transporter 9.0E-22 0.507 0.885
AHI1 Q8N157 Abelson helper integration site 1 1.1E-25 0.513 0.846
SLC9A6 Q92581 solute carrier family 9 member A6 Transporter 1.00 0.516 0.846
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
SLC35A2 P78381 solute carrier family 35 member A2 Transporter 0.72 0.525 0.808
TFAM Q00059 transcription factor A, mitochondrial 0.17 0.529 0.731
CSTB P04080 cystatin B Enzyme modulator 6.6E-03 0.530 0.692
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
EMD P50402 emerin 0.93 0.542 0.731
COL7A1 Q02388 collagen type VII alpha 1 chain Receptor 2.4E-40 0.545 0.808
COL17A1 Q9UMD9 collagen type XVII alpha 1 chain 2.3E-27 0.545 0.769