Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
USP7 Q93009 ubiquitin specific peptidase 7 Enzyme 1.00 0.538 0.808 34 1
VPS11 Q9H270 VPS11 core subunit of CORVET and HOPS complexes Transporter 1.9E-05 0.633 0.654 26 1
MPP4 Q96JB8 membrane palmitoylated protein 4 Enzyme 3.4E-18 0.792 0.308 7 1
DMBX1 Q8NFW5 diencephalon/mesencephalon homeobox 1 0.93 0.780 0.115 6 1
RSRC2 Q7L4I2 arginine and serine rich coiled-coil 2 1.00 0.769 0.308 6 1
TMEM94 Q12767 transmembrane protein 94 2.8E-14 0.628 0.654 73 2
SCAMP4 Q969E2 secretory carrier membrane protein 4 Enzyme 4.6E-03 0.931 0.077 3 2
ADAT3 Q96EY9 adenosine deaminase tRNA specific 3 5.6E-03 0.736 0.385 3 2
H3-3A P84243 H3.3 histone A 0.12 0.559 0.692 68 3
GMNN O75496 geminin DNA replication inhibitor 0.11 0.554 0.808 39 3
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462 37 3
SPART Q8N0X7 spartin 3.0E-07 0.588 0.654 8 4
MAST1 Q9Y2H9 microtubule associated serine/threonine kinase 1 Kinase 1.00 0.711 0.385 7 5
MPDU1 O75352 mannose-P-dolichol utilization defect 1 1.0E-05 0.682 0.500 16 6
DHX30 Q7L2E3 DExH-box helicase 30 Enzyme 1.00 0.722 0.500 20 7
RFT1 Q96AA3 RFT1 homolog 3.7E-13 0.700 0.500 13 7
TMCO1 Q9UM00 transmembrane and coiled-coil domains 1 9.4E-10 0.588 0.654 30 9
TMEM231 Q9H6L2 transmembrane protein 231 3.1E-07 0.554 0.692 14 9
CDC42 P60953 cell division cycle 42 Enzyme modulator 0.79 0.458 0.846 13 9
SOX5 P35711 SRY-box transcription factor 5 1.00 0.545 0.769 12 9
GNB1 P62873 G protein subunit beta 1 Enzyme 1.00 0.617 0.731 34 11
PYCR1 P32322 pyrroline-5-carboxylate reductase 1 2.0E-04 0.570 0.654 16 12
QARS1 P47897 glutaminyl-tRNA synthetase 1 Enzyme 2.7E-13 0.716 0.231 12 13
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654 91 14