Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885 70 52
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923 107 343
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846 125 84
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923 5 32
NOTCH1 P46531 notch receptor 1 1.00 0.369 0.885 12 42
EZH2 Q15910 enhancer of zeste 2 polycomb repressive complex 2 subunit Epigenetic regulator 1.00 0.376 0.885 6 16
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846 68 2953
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808 82 76
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923 153 73
SLC2A1 P11166 solute carrier family 2 member 1 Transporter 0.99 0.388 0.808 34 55
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846 60 39
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885 23 26
PTCH1 Q13635 patched 1 1.00 0.398 0.885 116 144
SMAD4 Q13485 SMAD family member 4 Transcription factor 1.00 0.401 0.808 16 133
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885 61 61
CASR P41180 calcium sensing receptor G-protein coupled receptor 4.7E-02 0.410 0.846 17 83
SYT1 P21579 synaptotagmin 1 Transporter 0.60 0.412 0.846 12 6
TGFBR2 P37173 transforming growth factor beta receptor 2 Kinase 0.13 0.413 0.846 18 45
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846 150 336
ELN P15502 elastin 2.1E-14 0.415 0.885 9 39
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846 137 1044
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885 45 26
SOX9 P48436 SRY-box transcription factor 9 1.00 0.419 0.846 4 16
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885 60 27