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
NRAS P01111 NRAS proto-oncogene, GTPase Enzyme modulator 0.49 0.390 0.808 186
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731 177
POMT1 Q9Y6A1 protein O-mannosyltransferase 1 4.2E-17 0.525 0.615 177
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885 176
POMT2 Q9UKY4 protein O-mannosyltransferase 2 9.4E-12 0.544 0.615 157
FKTN O75072 fukutin 8.7E-07 0.511 0.692 151
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769 151
POMGNT1 Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 1.9E-20 0.537 0.538 146
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846 135
GMPPB Q9Y5P6 GDP-mannose pyrophosphorylase B 8.4E-07 0.578 0.538 135
LARGE1 O95461 LARGE xylosyl- and glucuronyltransferase 1 Enzyme 0.99 0.526 0.654 134
RPGRIP1L Q68CZ1 RPGRIP1 like Enzyme modulator 4.1E-31 0.534 0.769 127
CC2D2A Q9P2K1 coiled-coil and C2 domain containing 2A 1.7E-27 0.532 0.692 126
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808 122
PUF60 Q9UHX1 poly(U) binding splicing factor 60 1.00 0.536 0.769 111
KDM6A O15550 lysine demethylase 6A Epigenetic regulator 1.00 0.498 0.769 106
WASHC5 Q12768 WASH complex subunit 5 Transporter 8.3E-18 0.572 0.615 102
ESCO2 Q56NI9 establishment of sister chromatid cohesion N-acetyltransferase 2 3.2E-07 0.581 0.615 99
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808 98
FOXE3 Q13461 forkhead box E3 Transcription factor 0.18 0.568 0.654 90
POMK Q9H5K3 protein O-mannose kinase Kinase 1.9E-08 0.590 0.500 89
OTX2 P32243 orthodenticle homeobox 2 Transcription factor 0.92 0.514 0.808 86
TMEM237 Q96Q45 transmembrane protein 237 1.9E-12 0.612 0.538 79