Source: CLINGEN

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
TP53 P04637 tumor protein p53 Transcription factor 0.53 0.236 0.962 1
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923 1
CDKN2A P42771 Q8N726 cyclin dependent kinase inhibitor 2A 0.39 0.300 0.885 1
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923 1
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846 6
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923 6
MTHFR P42898 methylenetetrahydrofolate reductase 3.2E-10 0.337 0.885 3
KIT P10721 KIT proto-oncogene, receptor tyrosine kinase Kinase 0.98 0.366 0.808 2
BRCA1 P38398 BRCA1 DNA repair associated Enzyme 9.2E-29 0.367 0.923 4
NOTCH1 P46531 notch receptor 1 1.00 0.369 0.885 1
ATM Q13315 ATM serine/threonine kinase Kinase 5.6E-47 0.374 0.885 6
HGF P14210 hepatocyte growth factor Enzyme 1.00 0.374 0.885 1
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885 6
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846 4
MET P08581 MET proto-oncogene, receptor tyrosine kinase Kinase 0.97 0.380 0.846 4
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923 6
SLC2A1 P11166 solute carrier family 2 member 1 Transporter 0.99 0.388 0.808 3
PLG P00747 plasminogen Enzyme 1.0E-02 0.389 0.923 2
NRAS P01111 NRAS proto-oncogene, GTPase Enzyme modulator 0.49 0.390 0.808 6
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846 1
RET P07949 ret proto-oncogene Kinase 1.00 0.392 0.885 1
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885 1
ALK Q9UM73 ALK receptor tyrosine kinase Kinase 3.2E-06 0.396 0.846 1
PTCH1 Q13635 patched 1 1.00 0.398 0.885 1