Source: GENOMICS_ENGLAND

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
DENND5A Q6IQ26 DENN domain containing 5A 5.8E-02 0.821 0.115 2
KCTD3 Q9Y597 potassium channel tetramerization domain containing 3 0.10 0.931 0.115 1
NUP214 P35658 nucleoporin 214 Nucleic acid binding 5.5E-02 0.638 0.385 3
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462 6
RYR3 Q15413 ryanodine receptor 3 Ion channel 0.71 0.666 0.462 1
GABBR2 O75899 gamma-aminobutyric acid type B receptor subunit 2 G-protein coupled receptor 1.00 0.650 0.538 4
GPHN Q9NQX3 gephyrin 1.00 0.608 0.538 2
ALG13 Q9NP73 ALG13 UDP-N-acetylglucosaminyltransferase subunit 1.00 0.631 0.577 4
CHD2 O14647 chromodomain helicase DNA binding protein 2 1.00 0.585 0.577 3
GABRA1 P14867 gamma-aminobutyric acid type A receptor subunit alpha1 Ion channel 0.91 0.563 0.577 3
KCNA2 P16389 potassium voltage-gated channel subfamily A member 2 Ion channel 0.91 0.612 0.577 2
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577 2
FGF12 P61328 fibroblast growth factor 12 Signaling 0.62 0.619 0.615 2
MAGI2 Q86UL8 membrane associated guanylate kinase, WW and PDZ domain containing 2 1.00 0.579 0.654 6
ADSL P30566 adenylosuccinate lyase Enzyme 8.9E-12 0.631 0.654 3
HNRNPU Q00839 heterogeneous nuclear ribonucleoprotein U 1.00 0.575 0.654 3
GRIN1 Q05586 glutamate ionotropic receptor NMDA type subunit 1 Ion channel 0.98 0.561 0.692 5
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692 4
MAPK10 P53779 mitogen-activated protein kinase 10 Kinase 0.28 0.606 0.692 4
DNM1 Q05193 dynamin 1 Enzyme modulator 1.00 0.595 0.692 2
PLAA Q9Y263 phospholipase A2 activating protein Enzyme modulator 0.47 0.597 0.692 2
NEDD4L Q96PU5 NEDD4 like E3 ubiquitin protein ligase Enzyme 1.00 0.573 0.731 3
SLC1A2 P43004 solute carrier family 1 member 2 Transporter 0.71 0.511 0.731 3
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769 8