Source: HPO

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
SUFU Q9UMX1 SUFU negative regulator of hedgehog signaling 1.00 0.493 0.769 189
AKT1 P31749 AKT serine/threonine kinase 1 Kinase 0.98 0.311 0.962 187
NRAS P01111 NRAS proto-oncogene, GTPase Enzyme modulator 0.49 0.390 0.808 186
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
BCOR Q6W2J9 BCL6 corepressor 1.00 0.471 0.808 180
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654 179
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731 177
POMT1 Q9Y6A1 protein O-mannosyltransferase 1 4.2E-17 0.525 0.615 177
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885 176
SDHB P21912 succinate dehydrogenase complex iron sulfur subunit B Enzyme 2.4E-04 0.474 0.846 176
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
RFC2 P35250 replication factor C subunit 2 Enzyme 2.2E-06 0.520 0.769 175
TBL2 Q9Y4P3 transducin beta like 2 1.8E-04 0.538 0.731 175
FLNB O75369 filamin B 6.1E-10 0.458 0.923 173
SMAD4 Q13485 SMAD family member 4 Transcription factor 1.00 0.401 0.808 173
PEX1 O43933 peroxisomal biogenesis factor 1 1.1E-14 0.538 0.769 171
TRNS1 tRNA 0.555 0.808 170
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885 169
BSCL2 Q96G97 BSCL2 lipid droplet biogenesis associated, seipin 1.1E-09 0.545 0.692 168