Source: GENOMICS_ENGLAND

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
ACTG1 P63261 actin gamma 1 Cellular structure 4.8E-03 0.477 0.846 34
SLC5A6 Q9Y289 solute carrier family 5 member 6 Transporter 6.1E-03 0.674 0.577 18
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846 17
EIF2S3 P41091 eukaryotic translation initiation factor 2 subunit gamma Enzyme 0.96 0.604 0.731 9
KDM5C P41229 lysine demethylase 5C 1.00 0.581 0.538 7
CACNA2D2 Q9NY47 calcium voltage-gated channel auxiliary subunit alpha2delta 2 Ion channel 1.00 0.626 0.615 6
PIGQ Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 1.4E-06 0.610 0.577 6
PRRT2 Q7Z6L0 proline rich transmembrane protein 2 0.58 0.448 0.808 6
SCN8A Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 1.00 0.510 0.731 5
PCDH12 Q9NPG4 protocadherin 12 2.9E-13 0.722 0.346 4
SETD1A O15047 SET domain containing 1A, histone lysine methyltransferase 1.00 0.619 0.615 4
SLC35A2 P78381 solute carrier family 35 member A2 Transporter 0.72 0.525 0.808 4
TANC2 Q9HCD6 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 1.00 0.861 0.154 4
AGMO Q6ZNB7 alkylglycerol monooxygenase 6.8E-26 0.780 0.423 3
ASTN1 O14525 astrotactin 1 1.00 0.736 0.308 3
EARS2 Q5JPH6 glutamyl-tRNA synthetase 2, mitochondrial Enzyme 1.1E-08 0.666 0.538 3
KCND2 Q9NZV8 potassium voltage-gated channel subfamily D member 2 Ion channel 1.2E-02 0.751 0.308 3
PIGH Q14442 phosphatidylinositol glycan anchor biosynthesis class H 0.23 0.760 0.231 3
RARS2 Q5T160 arginyl-tRNA synthetase 2, mitochondrial 7.7E-14 0.663 0.462 3
ZDHHC9 Q9Y397 zinc finger DHHC-type palmitoyltransferase 9 0.74 0.670 0.577 3
EIF2A Q9BY44 eukaryotic translation initiation factor 2A Enzyme 6.0E-09 0.780 0.346 2
GLUD1 P00367 glutamate dehydrogenase 1 Enzyme 7.0E-03 0.584 0.731 2
KCNT2 Q6UVM3 potassium sodium-activated channel subfamily T member 2 4.2E-02 0.711 0.308 2
LMAN2L Q9H0V9 lectin, mannose binding 2 like Transporter 2.0E-11 0.641 0.385 2