Source: HPO

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923 337
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923 255
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846 254
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846 242
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808 213
TBX1 O43435 T-box transcription factor 1 Transcription factor 0.84 0.433 0.808 199
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769 198
AKT1 P31749 AKT serine/threonine kinase 1 Kinase 0.98 0.311 0.962 187
BCOR Q6W2J9 BCL6 corepressor 1.00 0.471 0.808 180
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808 173
GP1BB P13224 glycoprotein Ib platelet subunit beta 0.51 0.524 0.769 158
TPM2 P07951 tropomyosin 2 Cellular structure 2.4E-04 0.530 0.654 157
APC P25054 APC regulator of WNT signaling pathway 1.00 0.373 0.962 155
MKS1 Q9NXB0 MKS transition zone complex subunit 1 Extracellular structure 3.4E-16 0.505 0.769 153
ATP7A Q04656 ATPase copper transporting alpha Transporter 1.00 0.494 0.769 152
RECQL4 O94761 RecQ like helicase 4 Enzyme 3.3E-35 0.496 0.808 152
OCRL Q01968 OCRL inositol polyphosphate-5-phosphatase Enzyme 1.00 0.553 0.731 151
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769 151
ACTA1 P68133 actin alpha 1, skeletal muscle Cellular structure 1.1E-06 0.540 0.769 147
CSPP1 Q1MSJ5 centrosome and spindle pole associated protein 1 3.3E-29 0.544 0.769 146
MYH7 P12883 myosin heavy chain 7 4.2E-16 0.516 0.692 144
TMEM216 Q9P0N5 transmembrane protein 216 1.9E-03 0.544 0.615 143
COL3A1 P02461 collagen type III alpha 1 chain 1.00 0.477 0.808 142
NSUN2 Q08J23 NOP2/Sun RNA methyltransferase 2 Enzyme 2.6E-04 0.559 0.846 140