Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
BDNF P23560 brain derived neurotrophic factor Signaling 0.66 0.345 0.923
NOTCH1 P46531 notch receptor 1 1.00 0.369 0.885
FAS P25445 Fas cell surface death receptor 0.81 0.372 0.923
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846
LMNA P02545 lamin A/C 1.00 0.384 0.885
SLC2A1 P11166 solute carrier family 2 member 1 Transporter 0.99 0.388 0.808
RET P07949 ret proto-oncogene Kinase 1.00 0.392 0.885
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
PTCH1 Q13635 patched 1 1.00 0.398 0.885
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
SYT1 P21579 synaptotagmin 1 Transporter 0.60 0.412 0.846
TGFBR2 P37173 transforming growth factor beta receptor 2 Kinase 0.13 0.413 0.846
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
ELN P15502 elastin 2.1E-14 0.415 0.885
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
TGFB2 P61812 transforming growth factor beta 2 Signaling 1.00 0.433 0.885
SMARCB1 Q12824 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 Nucleic acid binding 1.00 0.434 0.846
SPG7 Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 2.0E-36 0.436 0.885