Source: GENOMICS_ENGLAND

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
ATM Q13315 ATM serine/threonine kinase Kinase 5.6E-47 0.374 0.885 11
NTRK1 P04629 neurotrophic receptor tyrosine kinase 1 Kinase 2.0E-06 0.422 0.808 3
SPG7 Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 2.0E-36 0.436 0.885 2
L1CAM P32004 L1 cell adhesion molecule 1.00 0.475 0.769 7
ATP7A Q04656 ATPase copper transporting alpha Transporter 1.00 0.494 0.769 6
MTTP P55157 microsomal triglyceride transfer protein Transporter 1.0E-05 0.505 0.846 4
FXN Q16595 frataxin Enzyme 0.34 0.510 0.654 4
TWNK Q96RR1 twinkle mtDNA helicase Enzyme 3.2E-03 0.516 0.692 4
MRE11 P49959 MRE11 homolog, double strand break repair nuclease 1.3E-12 0.527 0.808 3
PNPLA6 Q8IY17 patatin like phospholipase domain containing 6 Enzyme 1.9E-13 0.533 0.769 5
ITPR1 Q14643 inositol 1,4,5-trisphosphate receptor type 1 Ion channel 1.00 0.534 0.846 4
SCN9A Q15858 sodium voltage-gated channel alpha subunit 9 Ion channel 4.8E-19 0.543 0.615 9
PLP1 P60201 proteolipid protein 1 Cellular structure 0.93 0.543 0.769 4
WASHC5 Q12768 WASH complex subunit 5 Transporter 8.3E-18 0.572 0.615 3
KCNA1 Q09470 potassium voltage-gated channel subfamily A member 1 Ion channel 7.6E-02 0.573 0.577 4
SLC1A3 P43003 solute carrier family 1 member 3 Transporter 0.99 0.573 0.577 3
SPG11 Q96JI7 SPG11 vesicle trafficking associated, spatacsin 1.6E-39 0.576 0.538 4
SPAST Q9UBP0 spastin Cellular structure 1.00 0.579 0.577 4
SIL1 Q9H173 SIL1 nucleotide exchange factor 1.2E-02 0.584 0.731 3
SPART Q8N0X7 spartin 3.0E-07 0.588 0.654 4
APTX Q7Z2E3 aprataxin Nucleic acid binding 4.0E-10 0.590 0.500 4
KIF5A Q12840 kinesin family member 5A Cellular structure 1.00 0.593 0.731 6
PEX7 O00628 peroxisomal biogenesis factor 7 8.2E-13 0.603 0.615 6
SACS Q9NZJ4 sacsin molecular chaperone 1.1E-23 0.606 0.654 3