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
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
PDGFRB P09619 platelet derived growth factor receptor beta Kinase 0.90 0.416 0.846
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
SLC25A1 P53007 solute carrier family 25 member 1 Transporter 5.9E-02 0.553 0.731
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577
B9D1 Q9UPM9 B9 domain containing 1 Extracellular structure 2.8E-03 0.572 0.692
PLOD1 Q02809 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 Enzyme 1.5E-15 0.579 0.731
PDHA1 P08559 pyruvate dehydrogenase E1 subunit alpha 1 0.99 0.581 0.538
PPP2R1A P30153 protein phosphatase 2 scaffold subunit Aalpha Enzyme 0.98 0.588 0.577
KIAA1109 Q2LD37 KIAA1109 3.3E-21 0.603 0.654
BICD2 Q8TD16 BICD cargo adaptor 2 0.98 0.615 0.731
NID1 P14543 nidogen 1 7.2E-12 0.631 0.577
KIF4A O95239 kinesin family member 4A Cellular structure 1.00 0.647 0.462
DPH1 Q9BZG8 diphthamide biosynthesis 1 8.0E-17 0.653 0.538
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