Source: GENOMICS_ENGLAND

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
L1CAM P32004 L1 cell adhesion molecule 1.00 0.475 0.769 7
PEX7 O00628 peroxisomal biogenesis factor 7 8.2E-13 0.603 0.615 6
SPTBN2 O15020 spectrin beta, non-erythrocytic 2 9.9E-05 0.619 0.731 6
SPART Q8N0X7 spartin 3.0E-07 0.588 0.654 4
SPG11 Q96JI7 SPG11 vesicle trafficking associated, spatacsin 1.6E-39 0.576 0.538 4
ALDH3A2 P51648 aldehyde dehydrogenase 3 family member A2 9.4E-06 0.619 0.769 3
SACS Q9NZJ4 sacsin molecular chaperone 1.1E-23 0.606 0.654 3
MRE11 P49959 MRE11 homolog, double strand break repair nuclease 1.3E-12 0.527 0.808 3
PHYH O14832 phytanoyl-CoA 2-hydroxylase 2.4E-06 0.659 0.577 3
SIL1 Q9H173 SIL1 nucleotide exchange factor 1.2E-02 0.584 0.731 3
ZFYVE27 Q5T4F4 zinc finger FYVE-type containing 27 1.1E-09 0.805 0.308 2
ZFYVE26 Q68DK2 zinc finger FYVE-type containing 26 4.7E-23 0.636 0.615 2
DNAJB2 P25686 DnaJ heat shock protein family (Hsp40) member B2 5.4E-05 0.743 0.192 2
SPG21 Q9NZD8 SPG21 abhydrolase domain containing, maspardin 6.6E-04 0.695 0.500 2
KIF5A Q12840 kinesin family member 5A Cellular structure 1.00 0.593 0.731 6
PLP1 P60201 proteolipid protein 1 Cellular structure 0.93 0.543 0.769 4
SPAST Q9UBP0 spastin Cellular structure 1.00 0.579 0.577 4
PNPLA6 Q8IY17 patatin like phospholipase domain containing 6 Enzyme 1.9E-13 0.533 0.769 5
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
TDP1 Q9NUW8 tyrosyl-DNA phosphodiesterase 1 Enzyme 1.3E-17 0.612 0.538 2
SPG7 Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 2.0E-36 0.436 0.885 2
SCN9A Q15858 sodium voltage-gated channel alpha subunit 9 Ion channel 4.8E-19 0.543 0.615 9
CACNB4 O00305 calcium voltage-gated channel auxiliary subunit beta 4 Ion channel 3.1E-02 0.653 0.231 6