Source: HPO

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
TRNS1 tRNA 0.555 0.808 170
BSCL2 Q96G97 BSCL2 lipid droplet biogenesis associated, seipin 1.1E-09 0.545 0.692 168
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808 167
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808 165
FIG4 Q92562 FIG4 phosphoinositide 5-phosphatase 2.3E-34 0.551 0.731 162
SKI P12755 SKI proto-oncogene 1.00 0.503 0.808 159
GP1BB P13224 glycoprotein Ib platelet subunit beta 0.51 0.524 0.769 158
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808 157
POMT2 Q9UKY4 protein O-mannosyltransferase 2 9.4E-12 0.544 0.615 157
APC P25054 APC regulator of WNT signaling pathway 1.00 0.373 0.962 155
ERCC6 P0DP91 Q03468 ERCC excision repair 6, chromatin remodeling factor 5.2E-22 0.507 0.808 155
MAPT P10636 microtubule associated protein tau 6.0E-03 0.446 0.923 155
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885 154
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923 154
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731 153
FKTN O75072 fukutin 8.7E-07 0.511 0.692 151
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769 151
GPC4 O75487 glypican 4 0.93 0.547 0.769 148
WDR35 Q9P2L0 WD repeat domain 35 1.0E-22 0.525 0.692 148
FAS P25445 Fas cell surface death receptor 0.81 0.372 0.923 147
PTPN22 Q9Y2R2 protein tyrosine phosphatase non-receptor type 22 3.5E-21 0.438 0.846 146
POMGNT1 Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 1.9E-20 0.537 0.538 146
CSPP1 Q1MSJ5 centrosome and spindle pole associated protein 1 3.3E-29 0.544 0.769 146
TRNS2 tRNA 0.579 0.731 145