Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846 325
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923 286
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846 281
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808 225
TRNL1 tRNA 0.534 0.731 213
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731 212
PEX1 O43933 peroxisomal biogenesis factor 1 1.1E-14 0.538 0.769 209
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885 205
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846 200
ND6 P03923 NADH dehydrogenase, subunit 6 (complex I) 0.544 0.808 196
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885 191
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808 187
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654 187
APC P25054 APC regulator of WNT signaling pathway 1.00 0.373 0.962 187
BCOR Q6W2J9 BCL6 corepressor 1.00 0.471 0.808 186
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769 182
PTPN22 Q9Y2R2 protein tyrosine phosphatase non-receptor type 22 3.5E-21 0.438 0.846 181
TRNW tRNA 0.563 0.731 181
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808 174
PALB2 Q86YC2 partner and localizer of BRCA2 3.0E-19 0.485 0.769 173
SKI P12755 SKI proto-oncogene 1.00 0.503 0.808 171
ERCC6 P0DP91 Q03468 ERCC excision repair 6, chromatin remodeling factor 5.2E-22 0.507 0.808 167
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769 163
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731 161