Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
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
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923 66 35
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923 5 32
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
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
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885 61 61
SYT1 P21579 synaptotagmin 1 Transporter 0.60 0.412 0.846 12 6
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846 150 336
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885 60 27
GFAP P14136 glial fibrillary acidic protein 1.5E-06 0.421 0.885 5 90
SPG7 Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 2.0E-36 0.436 0.885 41 38
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846 62 116
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808 29 36
CDC42 P60953 cell division cycle 42 Enzyme modulator 0.79 0.458 0.846 13 9
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846 28 41
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808 76 33
FOXP1 Q9H334 forkhead box P1 1.00 0.460 0.808 21 26
TCF4 P15884 transcription factor 4 Transcription factor 1.00 0.464 0.846 34 63
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808 26 250
MAOA P21397 monoamine oxidase A 1.00 0.465 0.769 4 6
NHS Q6T4R5 NHS actin remodeling regulator 1.00 0.466 0.846 8 19