Source: CLINGEN

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
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
HIBCH Q6NVY1 3-hydroxyisobutyryl-CoA hydrolase Enzyme 2.6E-13 0.700 0.500 1
HPD P32754 4-hydroxyphenylpyruvate dioxygenase Enzyme 5.3E-04 0.573 0.769 1
PTS Q03393 6-pyruvoyltetrahydropterin synthase 6.5E-06 0.636 0.654 1
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846 1
AKAP9 Q99996 A-kinase anchoring protein 9 4.5E-17 0.638 0.385 1
ABHD12 Q8N2K0 abhydrolase domain containing 12 Enzyme 1.9E-05 0.666 0.385 1
ACAT1 P24752 acetyl-CoA acetyltransferase 1 Enzyme 9.9E-08 0.538 0.692 1
ACTA1 P68133 actin alpha 1, skeletal muscle Cellular structure 1.1E-06 0.540 0.769 1
ACTA2 P62736 actin alpha 2, smooth muscle Cellular structure 0.93 0.508 0.846 1
ACTC1 P68032 actin alpha cardiac muscle 1 Cellular structure 0.74 0.610 0.538 1
ACTG1 P63261 actin gamma 1 Cellular structure 4.8E-03 0.477 0.846 2
ATF6 P18850 activating transcription factor 6 3.2E-07 0.516 0.846 1
ACVRL1 P37023 activin A receptor like type 1 Kinase 9.7E-04 0.493 0.769 2
ACAD8 Q9UKU7 acyl-CoA dehydrogenase family member 8 Enzyme 5.6E-14 0.506 0.885 1
ACAD9 Q9H845 acyl-CoA dehydrogenase family member 9 Enzyme 4.5E-08 0.722 0.269 1
ACADL P28330 acyl-CoA dehydrogenase long chain Enzyme 1.7E-12 0.736 0.462 1
ACADM P11310 acyl-CoA dehydrogenase medium chain Enzyme 2.1E-12 0.638 0.462 1
ACADS P16219 acyl-CoA dehydrogenase short chain 2.8E-06 0.663 0.538 1
ACADSB P45954 acyl-CoA dehydrogenase short/branched chain 2.7E-11 0.691 0.500 1
ACADVL P49748 acyl-CoA dehydrogenase very long chain Enzyme 4.2E-15 0.653 0.654 1
ACSL4 O60488 acyl-CoA synthetase long chain family member 4 Enzyme 0.98 0.561 0.769 1
AP1S2 P56377 adaptor related protein complex 1 subunit sigma 2 Transporter 0.87 0.631 0.615 1