Source: INFERRED

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 0.846 281
ATXN2 Q99700 ataxin 2 Nucleic acid binding 0.85 0.482 0.808 221
TBX1 O43435 T-box transcription factor 1 Transcription factor 0.84 0.433 0.808 207
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808 169
WWOX Q9NZC7 WW domain containing oxidoreductase Enzyme 1.2E-15 0.453 0.808 149
LARGE1 O95461 LARGE xylosyl- and glucuronyltransferase 1 Enzyme 0.99 0.526 0.654 145
SEMA3E O15041 semaphorin 3E Signaling 8.7E-09 0.515 0.769 138
SH2B3 Q9UQQ2 SH2B adaptor protein 3 1.0E-04 0.527 0.692 135
ABCC9 O60706 ATP binding cassette subfamily C member 9 Transporter 9.4E-09 0.552 0.692 124
COL13A1 Q5TAT6 collagen type XIII alpha 1 chain 3.7E-14 0.608 0.654 116
NALCN Q8IZF0 sodium leak channel, non-selective Ion channel 8.5E-14 0.587 0.615 115
GLB1 P16278 galactosidase beta 1 Enzyme 7.9E-10 0.448 0.808 112
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769 111
IL23R Q5VWK5 interleukin 23 receptor Signaling 5.6E-04 0.466 0.769 107
FTO Q9C0B1 FTO alpha-ketoglutarate dependent dioxygenase 8.4E-08 0.486 0.885 100
DCC P43146 DCC netrin 1 receptor 0.99 0.471 0.808 96
PDE4D Q08499 phosphodiesterase 4D 1.00 0.519 0.846 93
CACNA1C Q13936 calcium voltage-gated channel subunit alpha1 C Ion channel 1.00 0.510 0.846 91
PAX3 P23760 paired box 3 0.24 0.481 0.769 89
STIM1 Q13586 stromal interaction molecule 1 0.78 0.501 0.808 89
TLR4 O00206 toll like receptor 4 4.6E-09 0.321 0.962 88
CD96 P40200 CD96 molecule 1.4E-11 0.592 0.692 87
NRXN1 P58400 Q9ULB1 neurexin 1 1.00 0.581 0.692 85
CNTNAP2 Q9UHC6 contactin associated protein 2 2.9E-09 0.530 0.846 83