Source: ORPHANET

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
GBE1 Q04446 1,4-alpha-glucan branching enzyme 1 Enzyme 1.1E-12 0.612 0.654 5
HPGD P15428 15-hydroxyprostaglandin dehydrogenase 1.4E-05 0.516 0.731 6
OAS1 P00973 2'-5'-oligoadenylate synthetase 1 Enzyme 3.4E-05 0.626 0.654 1
DHCR24 Q15392 24-dehydrocholesterol reductase Enzyme 3.1E-02 0.498 0.769 1
PAPSS2 O95340 3'-phosphoadenosine 5'-phosphosulfate synthase 2 Enzyme 2.0E-10 0.682 0.462 1
HMGCL P35914 3-hydroxy-3-methylglutaryl-CoA lyase Enzyme 2.6E-06 0.691 0.462 2
HMGCS2 P54868 3-hydroxy-3-methylglutaryl-CoA synthase 2 4.3E-14 0.666 0.577 1
HACD1 B0YJ81 3-hydroxyacyl-CoA dehydratase 1 1.3E-09 0.539 0.846 1
HAAO P46952 3-hydroxyanthranilate 3,4-dioxygenase 1.1E-08 0.644 0.538 2
HIBCH Q6NVY1 3-hydroxyisobutyryl-CoA hydrolase Enzyme 2.6E-13 0.700 0.500 1
KDSR Q06136 3-ketodihydrosphingosine reductase 0.12 0.674 0.538 1
OXCT1 P55809 3-oxoacid CoA-transferase 1 Enzyme 4.7E-03 0.686 0.423 1
ABAT P80404 4-aminobutyrate aminotransferase Enzyme 6.3E-03 0.628 0.538 1
HOGA1 Q86XE5 4-hydroxy-2-oxoglutarate aldolase 1 Enzyme 1.6E-14 0.792 0.192 1
HPD P32754 4-hydroxyphenylpyruvate dioxygenase Enzyme 5.3E-04 0.573 0.769 2
ALAS2 P22557 5'-aminolevulinate synthase 2 Enzyme 1.00 0.606 0.577 1
NT5E P21589 5'-nucleotidase ecto Enzyme 2.3E-11 0.436 0.885 1
NT5C2 P49902 5'-nucleotidase, cytosolic II Enzyme 2.1E-06 0.537 0.846 1
NT5C3A Q9H0P0 5'-nucleotidase, cytosolic IIIA Enzyme 1.5E-02 0.593 0.692 1
ATIC P31939 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase Enzyme 3.0E-19 0.576 0.731 1
OPLAH O14841 5-oxoprolinase, ATP-hydrolysing Enzyme 7.0E-17 0.792 0.308 1
PTS Q03393 6-pyruvoyltetrahydropterin synthase 6.5E-06 0.636 0.654 1
OGG1 O15527 8-oxoguanine DNA glycosylase 3.9E-12 0.453 0.808 1
AKAP9 Q99996 A-kinase anchoring protein 9 4.5E-17 0.638 0.385 2