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
FLNA P21333 filamin A 1.00 0.419 0.846 298
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846 264
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846 261
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923 255
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846 242
SDHD O14521 succinate dehydrogenase complex subunit D Transporter 0.34 0.472 0.885 212
GBA P04062 glucosylceramidase beta 1.4E-06 0.500 0.808 202
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769 198
SUFU Q9UMX1 SUFU negative regulator of hedgehog signaling 1.00 0.493 0.769 189
NRAS P01111 NRAS proto-oncogene, GTPase Enzyme modulator 0.49 0.390 0.808 186
BCOR Q6W2J9 BCL6 corepressor 1.00 0.471 0.808 180
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
SDHB P21912 succinate dehydrogenase complex iron sulfur subunit B Enzyme 2.4E-04 0.474 0.846 176
TRNW tRNA 0.563 0.731 175
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808 173
TRNS1 tRNA 0.555 0.808 170
SDHA P31040 succinate dehydrogenase complex flavoprotein subunit A Enzyme 2.6E-10 0.517 0.731 168
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 2.2E-16 0.457 0.808 168
PIEZO2 Q9H5I5 piezo type mechanosensitive ion channel component 2 Ion channel 8.1E-07 0.529 0.769 159
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