Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
PACS1 Q6VY07 phosphofurin acidic cluster sorting protein 1 1.00 0.603 0.615 17 1
SHOC2 Q9UQ13 SHOC2 leucine rich repeat scaffold protein 1.00 0.593 0.769 12 1
RBFOX2 O43251 RNA binding fox-1 homolog 2 Nucleic acid binding 1.00 0.590 0.846 4 1
SPNS2 Q8IVW8 sphingolipid transporter 2 Transporter 1.2E-05 0.729 0.423 3 1
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
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
ZSWIM6 Q9HCJ5 zinc finger SWIM-type containing 6 1.00 0.626 0.577 6 2
PKDCC Q504Y2 protein kinase domain containing, cytoplasmic Kinase 2.1E-05 0.821 0.154 4 2
NMNAT2 Q9BZQ4 nicotinamide nucleotide adenylyltransferase 2 Enzyme 0.99 0.670 0.500 2 2
JAK1 P23458 Janus kinase 1 Kinase 1.00 0.474 0.769 5 3
MN1 Q10571 MN1 proto-oncogene, transcriptional regulator 1.00 0.682 0.385 4 3
GPD1 P21695 glycerol-3-phosphate dehydrogenase 1 Enzyme 5.6E-03 0.670 0.500 3 3
NDUFB3 O43676 NADH:ubiquinone oxidoreductase subunit B3 1.6E-05 0.705 0.538 3 3
RAB23 Q9ULC3 RAB23, member RAS oncogene family 5.6E-03 0.541 0.654 3 3
MSMO1 Q15800 methylsterol monooxygenase 1 Enzyme 9.0E-02 0.729 0.385 3 3
PIGQ Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 1.4E-06 0.610 0.577 54 4
XYLT2 Q9H1B5 xylosyltransferase 2 0.93 0.566 0.808 9 4