Source: GENOMICS_ENGLAND

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
ALDH3A2 P51648 aldehyde dehydrogenase 3 family member A2 9.4E-06 0.619 0.769 3
APTX Q7Z2E3 aprataxin Nucleic acid binding 4.0E-10 0.590 0.500 4
ATM Q13315 ATM serine/threonine kinase Kinase 5.6E-47 0.374 0.885 11
ATP7A Q04656 ATPase copper transporting alpha Transporter 1.00 0.494 0.769 6
CACNB4 O00305 calcium voltage-gated channel auxiliary subunit beta 4 Ion channel 3.1E-02 0.653 0.231 6
COQ8A Q8NI60 coenzyme Q8A Kinase 9.3E-11 0.674 0.385 4
DNAJB2 P25686 DnaJ heat shock protein family (Hsp40) member B2 5.4E-05 0.743 0.192 2
FGF14 Q92915 fibroblast growth factor 14 Signaling 0.91 0.619 0.692 2
FXN Q16595 frataxin Enzyme 0.34 0.510 0.654 4
ITPR1 Q14643 inositol 1,4,5-trisphosphate receptor type 1 Ion channel 1.00 0.534 0.846 4
KCNA1 Q09470 potassium voltage-gated channel subfamily A member 1 Ion channel 7.6E-02 0.573 0.577 4
KCNC3 Q14003 potassium voltage-gated channel subfamily C member 3 Ion channel 0.21 0.705 0.462 2
KIF5A Q12840 kinesin family member 5A Cellular structure 1.00 0.593 0.731 6
L1CAM P32004 L1 cell adhesion molecule 1.00 0.475 0.769 7
MRE11 P49959 MRE11 homolog, double strand break repair nuclease 1.3E-12 0.527 0.808 3
MTTP P55157 microsomal triglyceride transfer protein Transporter 1.0E-05 0.505 0.846 4
NIPA1 Q7RTP0 NIPA magnesium transporter 1 Transporter 5.9E-03 0.682 0.462 2
NTRK1 P04629 neurotrophic receptor tyrosine kinase 1 Kinase 2.0E-06 0.422 0.808 3
PEX7 O00628 peroxisomal biogenesis factor 7 8.2E-13 0.603 0.615 6
PHYH O14832 phytanoyl-CoA 2-hydroxylase 2.4E-06 0.659 0.577 3
PLP1 P60201 proteolipid protein 1 Cellular structure 0.93 0.543 0.769 4
PNPLA6 Q8IY17 patatin like phospholipase domain containing 6 Enzyme 1.9E-13 0.533 0.769 5
PRKCG P05129 protein kinase C gamma Kinase 1.00 0.617 0.500 2
SACS Q9NZJ4 sacsin molecular chaperone 1.1E-23 0.606 0.654 3