Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
TP53 P04637 tumor protein p53 Transcription factor 0.53 0.236 0.962 84 390
APC P25054 APC regulator of WNT signaling pathway 1.00 0.373 0.962 33 582
APOE P02649 apolipoprotein E 1.9E-03 0.338 0.962 14 17
NLRP3 Q96P20 NLR family pyrin domain containing 3 8.1E-04 0.361 0.962 9 14
ALB P02768 albumin Transporter 0.64 0.317 0.962 6 9
COX2 P00403 cytochrome c oxidase subunit II Enzyme 0.352 0.962 6 74
RAC1 P63000 Rac family small GTPase 1 Enzyme modulator 0.76 0.429 0.962 5 7
ESR1 P03372 estrogen receptor 1 Nuclear receptor 1.00 0.324 0.962 4 11
FN1 P02751 fibronectin 1 Signaling 1.4E-03 0.365 0.962 3 14
SOD1 P00441 superoxide dismutase 1 Enzyme 0.18 0.379 0.962 3 36
TGFB1 P01137 transforming growth factor beta 1 Signaling 3.7E-02 0.287 0.962 3 14
AKT1 P31749 AKT serine/threonine kinase 1 Kinase 0.98 0.311 0.962 2 3
IFNG P01579 interferon gamma 0.47 0.288 0.962 2 1
CD44 P16070 CD44 molecule (Indian blood group) 2.4E-07 0.363 0.962 1 12
ICAM1 P05362 intercellular adhesion molecule 1 3.5E-02 0.364 0.962 1 1
IL1B P01584 interleukin 1 beta 0.13 0.276 0.962 1 1
TNF P01375 tumor necrosis factor Signaling 0.80 0.231 0.962 1 2
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923 153 73
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923 107 343
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923 85 55
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923 66 35
DMD P11532 dystrophin 1.00 0.423 0.923 35 305
ABL1 P00519 ABL proto-oncogene 1, non-receptor tyrosine kinase Kinase 1.00 0.432 0.923 30 24
ERBB2 P04626 erb-b2 receptor tyrosine kinase 2 Kinase 6.0E-03 0.328 0.923 23 28