Source: HPO

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 0.846 261
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846 214
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808 213
TRNL1 tRNA 0.534 0.731 194
ND6 P03923 NADH dehydrogenase, subunit 6 (complex I) 0.544 0.808 188
BCOR Q6W2J9 BCL6 corepressor 1.00 0.471 0.808 180
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654 179
TRNW tRNA 0.563 0.731 175
PEX1 O43933 peroxisomal biogenesis factor 1 1.1E-14 0.538 0.769 171
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808 167
SKI P12755 SKI proto-oncogene 1.00 0.503 0.808 159
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808 157
ERCC6 P0DP91 Q03468 ERCC excision repair 6, chromatin remodeling factor 5.2E-22 0.507 0.808 155
APC P25054 APC regulator of WNT signaling pathway 1.00 0.373 0.962 155
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
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769 151
WDR35 Q9P2L0 WD repeat domain 35 1.0E-22 0.525 0.692 148
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
TMEM216 Q9P0N5 transmembrane protein 216 1.9E-03 0.544 0.615 143
TREX1 Q9NSU2 three prime repair exonuclease 1 0.58 0.517 0.808 142