Source: HPO

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
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
SMARCB1 Q12824 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 Nucleic acid binding 1.00 0.434 0.846 163
FIG4 Q92562 FIG4 phosphoinositide 5-phosphatase 2.3E-34 0.551 0.731 162
PIEZO2 Q9H5I5 piezo type mechanosensitive ion channel component 2 Ion channel 8.1E-07 0.529 0.769 159
SKI P12755 SKI proto-oncogene 1.00 0.503 0.808 159
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846 158
POMT2 Q9UKY4 protein O-mannosyltransferase 2 9.4E-12 0.544 0.615 157
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846 157
TPM2 P07951 tropomyosin 2 Cellular structure 2.4E-04 0.530 0.654 157
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
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885 154
MKS1 Q9NXB0 MKS transition zone complex subunit 1 Extracellular structure 3.4E-16 0.505 0.769 153
NAA10 P41227 N-alpha-acetyltransferase 10, NatA catalytic subunit Enzyme 0.76 0.535 0.692 153
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731 153
RRM2B Q7LG56 ribonucleotide reductase regulatory TP53 inducible subunit M2B Enzyme 2.4E-03 0.527 0.769 153
TBC1D24 Q9ULP9 TBC1 domain family member 24 Enzyme modulator 1.3E-08 0.530 0.808 153
ATP7A Q04656 ATPase copper transporting alpha Transporter 1.00 0.494 0.769 152
FKTN O75072 fukutin 8.7E-07 0.511 0.692 151
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769 151
PEX5 P50542 peroxisomal biogenesis factor 5 Transporter 5.6E-05 0.561 0.731 150
PIGN O95427 phosphatidylinositol glycan anchor biosynthesis class N Extracellular structure 2.3E-21 0.558 0.615 150
GPC4 O75487 glypican 4 0.93 0.547 0.769 148