Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
GBE1 Q04446 1,4-alpha-glucan branching enzyme 1 Enzyme 1.1E-12 0.612 0.654 11 25
AGPAT2 O15120 1-acylglycerol-3-phosphate O-acyltransferase 2 1.2E-07 0.585 0.654 2 24
HPGD P15428 15-hydroxyprostaglandin dehydrogenase 1.4E-05 0.516 0.731 3 7
DHCR24 Q15392 24-dehydrocholesterol reductase Enzyme 3.1E-02 0.498 0.769 1 5
PAPSS2 O95340 3'-phosphoadenosine 5'-phosphosulfate synthase 2 Enzyme 2.0E-10 0.682 0.462 2 11
HMGCL P35914 3-hydroxy-3-methylglutaryl-CoA lyase Enzyme 2.6E-06 0.691 0.462 1 22
HMGCR P04035 3-hydroxy-3-methylglutaryl-CoA reductase 1.00 0.529 0.692 1 1
HMGCS2 P54868 3-hydroxy-3-methylglutaryl-CoA synthase 2 4.3E-14 0.666 0.577 1 8
HAAO P46952 3-hydroxyanthranilate 3,4-dioxygenase 1.1E-08 0.644 0.538 28 2
HIBCH Q6NVY1 3-hydroxyisobutyryl-CoA hydrolase Enzyme 2.6E-13 0.700 0.500 3 7
KDSR Q06136 3-ketodihydrosphingosine reductase 0.12 0.674 0.538 1 4
OXCT1 P55809 3-oxoacid CoA-transferase 1 Enzyme 4.7E-03 0.686 0.423 1 7
OXSM Q9NWU1 3-oxoacyl-ACP synthase, mitochondrial 2.5E-05 0.861 0.115 2 1
ABAT P80404 4-aminobutyrate aminotransferase Enzyme 6.3E-03 0.628 0.538 5 12
HOGA1 Q86XE5 4-hydroxy-2-oxoglutarate aldolase 1 Enzyme 1.6E-14 0.792 0.192 1 37
HPD P32754 4-hydroxyphenylpyruvate dioxygenase Enzyme 5.3E-04 0.573 0.769 2 5
ALAS2 P22557 5'-aminolevulinate synthase 2 Enzyme 1.00 0.606 0.577 3 19
NT5DC1 Q5TFE4 5'-nucleotidase domain containing 1 Enzyme 5.1E-07 0.792 0.269 1 15
NT5E P21589 5'-nucleotidase ecto Enzyme 2.3E-11 0.436 0.885 1 3
NT5C2 P49902 5'-nucleotidase, cytosolic II Enzyme 2.1E-06 0.537 0.846 1 7
NT5C3A Q9H0P0 5'-nucleotidase, cytosolic IIIA Enzyme 1.5E-02 0.593 0.692 1 9
ATIC P31939 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase Enzyme 3.0E-19 0.576 0.731 1 1
HTR1A P08908 5-hydroxytryptamine receptor 1A G-protein coupled receptor 0.20 0.522 0.846 1 1
MTR Q99707 5-methyltetrahydrofolate-homocysteine methyltransferase 2.4E-12 0.482 0.808 5 7