Source: GENOMICS_ENGLAND

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
FLNA P21333 filamin A 1.00 0.419 0.846 14
MAGI2 Q86UL8 membrane associated guanylate kinase, WW and PDZ domain containing 2 1.00 0.579 0.654 6
ALG13 Q9NP73 ALG13 UDP-N-acetylglucosaminyltransferase subunit 1.00 0.631 0.577 4
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808 4
CHD2 O14647 chromodomain helicase DNA binding protein 2 1.00 0.585 0.577 3
HNRNPU Q00839 heterogeneous nuclear ribonucleoprotein U 1.00 0.575 0.654 3
AIMP2 Q13155 aminoacyl tRNA synthetase complex interacting multifunctional protein 2 8.0E-03 0.393 0.923 3
GPHN Q9NQX3 gephyrin 1.00 0.608 0.538 2
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
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462 6
ADSL P30566 adenylosuccinate lyase Enzyme 8.9E-12 0.631 0.654 3
NEDD4L Q96PU5 NEDD4 like E3 ubiquitin protein ligase Enzyme 1.00 0.573 0.731 3
GNAO1 P09471 G protein subunit alpha o1 Enzyme modulator 0.99 0.523 0.808 3
DNM1 Q05193 dynamin 1 Enzyme modulator 1.00 0.595 0.692 2
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577 2
PLAA Q9Y263 phospholipase A2 activating protein Enzyme modulator 0.47 0.597 0.692 2
GABBR2 O75899 gamma-aminobutyric acid type B receptor subunit 2 G-protein coupled receptor 1.00 0.650 0.538 4
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769 8
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
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
RYR3 Q15413 ryanodine receptor 3 Ion channel 0.71 0.666 0.462 1