Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
HLA-B P01889 major histocompatibility complex, class I, B 3.9E-05 0.379 0.885 239
ATXN2 Q99700 ataxin 2 Nucleic acid binding 0.85 0.482 0.808 221
TP53 P04637 tumor protein p53 Transcription factor 0.53 0.236 0.962 221
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731 212
HLA-DRB1 P01911 major histocompatibility complex, class II, DR beta 1 Immune response 1.1E-03 0.333 0.923 192
RET P07949 ret proto-oncogene Kinase 1.00 0.392 0.885 170
JMJD1C Q15652 jumonji domain containing 1C 1.00 0.517 0.769 169
FAS P25445 Fas cell surface death receptor 0.81 0.372 0.923 168
MKS1 Q9NXB0 MKS transition zone complex subunit 1 Extracellular structure 3.4E-16 0.505 0.769 168
RRM2B Q7LG56 ribonucleotide reductase regulatory TP53 inducible subunit M2B Enzyme 2.4E-03 0.527 0.769 160
WDR35 Q9P2L0 WD repeat domain 35 1.0E-22 0.525 0.692 160
CDH23 Q9H251 cadherin related 23 3.2E-06 0.539 0.769 156
B3GLCT Q6Y288 beta 3-glucosyltransferase Enzyme 7.1E-17 0.554 0.731 145
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
HLA-DQB1 P01920 major histocompatibility complex, class II, DQ beta 1 Immune response 8.9E-03 0.407 0.885 129
FANCD2 Q9BXW9 FA complementation group D2 1.1E-30 0.479 0.885 126
PDGFRB P09619 platelet derived growth factor receptor beta Kinase 0.90 0.416 0.846 122
GNPTAB Q3T906 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 7.7E-19 0.592 0.731 120
UBA5 Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 2.5E-04 0.582 0.731 119
IDUA P35475 alpha-L-iduronidase Enzyme 3.8E-13 0.499 0.846 118
COL7A1 Q02388 collagen type VII alpha 1 chain Receptor 2.4E-40 0.545 0.808 113
VAMP1 P23763 vesicle associated membrane protein 1 3.9E-03 0.628 0.538 112