Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
IQCE Q6IPM2 IQ motif containing E 1.4E-39 0.805 0.115 1 1
KRT12 Q99456 keratin 12 2.5E-14 0.751 0.192 1 1
SMAD2 Q15796 SMAD family member 2 Transcription factor 1.00 0.456 0.808 1 1
HHAT Q5VTY9 hedgehog acyltransferase Enzyme 3.2E-08 0.608 0.577 1 1
BMP7 P18075 bone morphogenetic protein 7 Signaling 0.13 0.498 0.769 1 1
NRP2 O60462 neuropilin 2 8.1E-04 0.539 0.615 1 1
EFNB1 P98172 ephrin B1 Signaling 0.93 0.561 0.769 2 19
DVL1 O14640 dishevelled segment polarity protein 1 Signaling 3.7E-06 0.531 0.769 2 14
VPS33B Q9H267 VPS33B late endosome and lysosome associated Transporter 2.4E-16 0.644 0.654 2 12
HIVEP2 P31629 HIVEP zinc finger 2 1.00 0.711 0.500 2 8
TGDS O95455 TDP-glucose 4,6-dehydratase 2.5E-09 0.644 0.538 2 6
NMNAT2 Q9BZQ4 nicotinamide nucleotide adenylyltransferase 2 Enzyme 0.99 0.670 0.500 2 2
HNRNPR O43390 heterogeneous nuclear ribonucleoprotein R Nucleic acid binding 1.00 0.722 0.308 2 1
DOCK1 Q14185 dedicator of cytokinesis 1 6.8E-03 0.641 0.577 2 1
MTIF2 P46199 mitochondrial translational initiation factor 2 Enzyme 3.7E-10 1.000 2 1
CANT1 Q8WVQ1 calcium activated nucleotidase 1 2.5E-06 0.619 0.731 3 17
COQ4 Q9Y3A0 coenzyme Q4 3.4E-09 0.780 0.269 3 14
DLL4 Q9NR61 delta like canonical Notch ligand 4 1.00 0.494 0.769 3 14
STAG1 Q8WVM7 stromal antigen 1 Nucleic acid binding 1.00 0.656 0.577 3 9
RAB3GAP2 Q9H2M9 RAB3 GTPase activating non-catalytic protein subunit 2 Enzyme modulator 0.99 0.584 0.769 3 9
CHD4 Q14839 chromodomain helicase DNA binding protein 4 1.00 0.593 0.654 3 8
TRMU O75648 tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase 1.5E-16 0.716 0.385 3 8
GRHL3 Q8TE85 grainyhead like transcription factor 3 Transcription factor 0.99 0.572 0.692 3 8
COL27A1 Q8IZC6 collagen type XXVII alpha 1 chain 0.59 0.780 0.269 3 7