Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
BICD2 Q8TD16 BICD cargo adaptor 2 0.98 0.615 0.731
PPP2R1A P30153 protein phosphatase 2 scaffold subunit Aalpha Enzyme 0.98 0.588 0.577
PDHA1 P08559 pyruvate dehydrogenase E1 subunit alpha 1 0.99 0.581 0.538
PLOD1 Q02809 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 Enzyme 1.5E-15 0.579 0.731
PDGFRB P09619 platelet derived growth factor receptor beta Kinase 0.90 0.416 0.846
SLC25A1 P53007 solute carrier family 25 member 1 Transporter 5.9E-02 0.553 0.731
B9D1 Q9UPM9 B9 domain containing 1 Extracellular structure 2.8E-03 0.572 0.692
DPH1 Q9BZG8 diphthamide biosynthesis 1 8.0E-17 0.653 0.538
KIAA1109 Q2LD37 KIAA1109 3.3E-21 0.603 0.654
KIF4A O95239 kinesin family member 4A Cellular structure 1.00 0.647 0.462
ARFGEF2 Q9Y6D5 ADP ribosylation factor guanine nucleotide exchange factor 2 1.00 0.659 0.462
FZD3 Q9NPG1 frizzled class receptor 3 G-protein coupled receptor 4.4E-04 0.659 0.577
TMEM92 Q6UXU6 transmembrane protein 92 6.3E-03 0.890 0.038
NID1 P14543 nidogen 1 7.2E-12 0.631 0.577