Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
POLG P54098 DNA polymerase gamma, catalytic subunit nucleic acid binding; transferase 1.3E-09 0.477 0.724 11
GLA P06280 galactosidase alpha 1.00 0.588 0.621 10
GBE1 Q04446 1,4-alpha-glucan branching enzyme 1 hydrolase 4.1E-12 0.621 0.517 9
TAZ Q16635 tafazzin transferase 0.72 0.543 0.655 9
CYP27A1 Q02318 cytochrome P450 family 27 subfamily A member 1 oxidoreductase 2.4E-19 0.582 0.655 8
GAA P10253 glucosidase alpha, acid hydrolase 1.9E-17 0.607 0.655 8
GBA P04062 glucosylceramidase beta 5.6E-06 0.521 0.724 8
HADHA P40939 hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha isomerase; lyase; oxidoreductase 4.4E-06 0.616 0.552 8
ALDH18A1 P54886 aldehyde dehydrogenase 18 family member A1 kinase; oxidoreductase; transferase 1.4E-03 0.594 0.586 7
NPC1 O15118 NPC intracellular cholesterol transporter 1 2.8E-05 0.536 0.690 7
OPA3 Q9H6K4 OPA3, outer mitochondrial membrane lipid metabolism regulator 0.49 0.652 0.276 7
AGL P35573 amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase hydrolase; transferase 2.4E-24 0.681 0.448 6
ETFDH Q16134 electron transfer flavoprotein dehydrogenase oxidoreductase 2.4E-12 0.667 0.448 6
GLB1 P16278 galactosidase beta 1 hydrolase 7.6E-10 0.457 0.828 6
MTR Q99707 5-methyltetrahydrofolate-homocysteine methyltransferase 2.6E-10 0.493 0.724 6
NPC2 P61916 NPC intracellular cholesterol transporter 2 1.9E-03 0.607 0.655 6
PFKM P08237 phosphofructokinase, muscle kinase; transferase 4.3E-17 0.690 0.448 6
TMEM70 Q9BUB7 transmembrane protein 70 1.7E-02 0.656 0.586 6
ACADVL P49748 acyl-CoA dehydrogenase very long chain oxidoreductase; transferase 8.0E-15 0.735 0.345 5
GLUD1 P00367 glutamate dehydrogenase 1 oxidoreductase 7.3E-03 0.636 0.552 5
GNPTAB Q3T906 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 8.1E-19 0.624 0.655 5
HLCS P50747 holocarboxylase synthetase ligase 2.0E-08 0.681 0.345 5
LIPA P38571 lipase A, lysosomal acid type hydrolase; protease 3.9E-07 0.609 0.448 5
MMACHC Q9Y4U1 methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria 1.9E-13 0.663 0.414 5