Source: HPO

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
LMNA P02545 lamin A/C 1.00 0.384 0.885 425
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923 337
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846 254
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846 238
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808 219
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846 214
ND1 P03886 NADH dehydrogenase, subunit 1 (complex I) Enzyme 0.522 0.769 208
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846 206
GBA P04062 glucosylceramidase beta 1.4E-06 0.500 0.808 202
TRNL1 tRNA 0.534 0.731 194
ND5 P03915 NADH dehydrogenase, subunit 5 (complex I) Enzyme 0.531 0.769 190
ND6 P03923 NADH dehydrogenase, subunit 6 (complex I) 0.544 0.808 188
NRAS P01111 NRAS proto-oncogene, GTPase Enzyme modulator 0.49 0.390 0.808 186
ND4 P03905 NADH dehydrogenase, subunit 4 (complex I) Enzyme 0.546 0.769 175
TRNW tRNA 0.563 0.731 175
PEX1 O43933 peroxisomal biogenesis factor 1 1.1E-14 0.538 0.769 171
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
ERCC6 P0DP91 Q03468 ERCC excision repair 6, chromatin remodeling factor 5.2E-22 0.507 0.808 155
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
HLA-DRB1 P01911 major histocompatibility complex, class II, DR beta 1 Immune response 1.1E-03 0.333 0.923 151
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769 151