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