Source: HPO

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 0.885 303
FLNA P21333 filamin A 1.00 0.419 0.846 298
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846 261
TP63 Q9H3D4 tumor protein p63 Transcription factor 1.00 0.362 0.769 245
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808 219
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808 213
ERCC2 P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 7.1E-20 0.420 0.846 210
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846 206
PRKAR1A P10644 protein kinase cAMP-dependent type I regulatory subunit alpha 1.00 0.401 0.846 205
TBX1 O43435 T-box transcription factor 1 Transcription factor 0.84 0.433 0.808 199
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769 198
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654 179
POMT1 Q9Y6A1 protein O-mannosyltransferase 1 4.2E-17 0.525 0.615 177
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808 173
PEX1 O43933 peroxisomal biogenesis factor 1 1.1E-14 0.538 0.769 171
BSCL2 Q96G97 BSCL2 lipid droplet biogenesis associated, seipin 1.1E-09 0.545 0.692 168
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846 157
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808 157
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885 154
FKTN O75072 fukutin 8.7E-07 0.511 0.692 151
BRCA1 P38398 BRCA1 DNA repair associated Enzyme 9.2E-29 0.367 0.923 147
ALDH18A1 P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 8.1E-04 0.551 0.769 145
LIG4 P49917 DNA ligase 4 4.2E-06 0.478 0.846 142
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808 141