Source: HPO

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846 214
NRAS P01111 NRAS proto-oncogene, GTPase Enzyme modulator 0.49 0.390 0.808 186
LIG4 P49917 DNA ligase 4 4.2E-06 0.478 0.846 142
RMRP RNA component of mitochondrial RNA processing endoribonuclease 0.519 0.731 141
LBR Q14739 lamin B receptor Enzyme 0.18 0.473 0.808 137
TCF4 P15884 transcription factor 4 Transcription factor 1.00 0.464 0.846 126
FLI1 Q01543 Fli-1 proto-oncogene, ETS transcription factor Transcription factor 0.99 0.468 0.692 124
CTLA4 P16410 cytotoxic T-lymphocyte associated protein 4 0.94 0.369 0.923 120
STAT3 P40763 signal transducer and activator of transcription 3 Nucleic acid binding 1.00 0.320 0.923 119
SCN9A Q15858 sodium voltage-gated channel alpha subunit 9 Ion channel 4.8E-19 0.543 0.615 116
IL12A P29459 interleukin 12A 4.7E-02 0.491 0.808 105
JAK2 O60674 Janus kinase 2 Kinase 0.65 0.385 0.885 102
ENPP1 P22413 ectonucleotide pyrophosphatase/phosphodiesterase 1 Enzyme 5.0E-08 0.498 0.808 100
TET2 Q6N021 tet methylcytosine dioxygenase 2 4.3E-54 0.458 0.808 100
NLRP3 Q96P20 NLR family pyrin domain containing 3 8.1E-04 0.361 0.962 93
MPL P40238 MPL proto-oncogene, thrombopoietin receptor Receptor 4.1E-09 0.510 0.692 91
FH P07954 fumarate hydratase Enzyme 8.8E-02 0.489 0.846 82
MVK Q03426 mevalonate kinase Kinase 0.17 0.576 0.731 82
COL7A1 Q02388 collagen type VII alpha 1 chain Receptor 2.4E-40 0.545 0.808 80
KIT P10721 KIT proto-oncogene, receptor tyrosine kinase Kinase 0.98 0.366 0.808 74
RAG1 P15918 recombination activating 1 Enzyme 2.8E-05 0.509 0.769 65
ABCC6 O95255 ATP binding cassette subfamily C member 6 Transporter 5.6E-35 0.540 0.654 64
RAG2 P55895 recombination activating 2 2.0E-02 0.507 0.769 64
ATP7B P35670 ATPase copper transporting beta Transporter 4.8E-30 0.529 0.654 62