Source: HPO

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
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
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846 214
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808 213
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885 205
PRKAR1A P10644 protein kinase cAMP-dependent type I regulatory subunit alpha 1.00 0.401 0.846 205
SMAD4 Q13485 SMAD family member 4 Transcription factor 1.00 0.401 0.808 173
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885 169
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808 167
FIG4 Q92562 FIG4 phosphoinositide 5-phosphatase 2.3E-34 0.551 0.731 162
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846 158
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885 154
GDF5 P43026 growth differentiation factor 5 Signaling 0.67 0.511 0.692 149
GPC4 O75487 glypican 4 0.93 0.547 0.769 148
LIG4 P49917 DNA ligase 4 4.2E-06 0.478 0.846 142
RMRP RNA component of mitochondrial RNA processing endoribonuclease 0.519 0.731 141
B3GLCT Q6Y288 beta 3-glucosyltransferase Enzyme 7.1E-17 0.554 0.731 137
NOTCH2 Q04721 notch receptor 2 1.00 0.441 0.808 127
GPC3 P51654 glypican 3 1.00 0.466 0.808 126
FLI1 Q01543 Fli-1 proto-oncogene, ETS transcription factor Transcription factor 0.99 0.468 0.692 124
PTH1R Q03431 parathyroid hormone 1 receptor G-protein coupled receptor 0.57 0.544 0.731 115
RAB3GAP2 Q9H2M9 RAB3 GTPase activating non-catalytic protein subunit 2 Enzyme modulator 0.99 0.584 0.769 114
SPECC1L Q69YQ0 sperm antigen with calponin homology and coiled-coil domains 1 like 0.86 0.593 0.654 107