Source: HPO

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923 337
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 0.885 303
ELN P15502 elastin 2.1E-14 0.415 0.885 248
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808 219
SDHD O14521 succinate dehydrogenase complex subunit D Transporter 0.34 0.472 0.885 212
ERCC2 P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 7.1E-20 0.420 0.846 210
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
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885 205
GBA P04062 glucosylceramidase beta 1.4E-06 0.500 0.808 202
TRNL1 tRNA 0.534 0.731 194
VCP P55072 valosin containing protein 1.00 0.469 0.923 193
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
POLR3A O14802 RNA polymerase III subunit A Enzyme 1.3E-23 0.538 0.769 186
ERCC4 Q92889 ERCC excision repair 4, endonuclease catalytic subunit Enzyme 1.4E-12 0.468 0.846 185
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654 179
BAZ1B Q9UIG0 bromodomain adjacent to zinc finger domain 1B 1.00 0.530 0.731 175
CLIP2 Q9UDT6 CAP-Gly domain containing linker protein 2 Cellular structure 1.00 0.529 0.808 175
GTF2I P78347 general transcription factor IIi 1.00 0.500 0.808 175
GTF2IRD1 Q9UHL9 GTF2I repeat domain containing 1 0.90 0.522 0.769 175
LIMK1 P53667 LIM domain kinase 1 Kinase 1.00 0.488 0.731 175
ND4 P03905 NADH dehydrogenase, subunit 4 (complex I) Enzyme 0.546 0.769 175
RFC2 P35250 replication factor C subunit 2 Enzyme 2.2E-06 0.520 0.769 175