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
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
SLC2A1 P11166 solute carrier family 2 member 1 Transporter 0.99 0.388 0.808
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
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
GFAP P14136 glial fibrillary acidic protein 1.5E-06 0.421 0.885
SPG7 Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 2.0E-36 0.436 0.885
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
CDC42 P60953 cell division cycle 42 Enzyme modulator 0.79 0.458 0.846
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
FOXP1 Q9H334 forkhead box P1 1.00 0.460 0.808
TCF4 P15884 transcription factor 4 Transcription factor 1.00 0.464 0.846
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
MAOA P21397 monoamine oxidase A 1.00 0.465 0.769
NHS Q6T4R5 NHS actin remodeling regulator 1.00 0.466 0.846
NBN O60934 nibrin Nucleic acid binding 2.2E-16 0.467 0.808