Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
PCCB P05166 propionyl-CoA carboxylase subunit beta Enzyme 1.5E-08 0.695 0.577 1 58
ASL P04424 argininosuccinate lyase Enzyme 8.6E-10 0.593 0.731 1 54
PCCA P05165 propionyl-CoA carboxylase subunit alpha Enzyme 3.1E-15 0.682 0.538 1 53
DPYD Q12882 dihydropyrimidine dehydrogenase Enzyme 3.4E-22 0.493 0.846 1 52
FAH P16930 fumarylacetoacetate hydrolase 4.0E-17 0.612 0.538 1 52
SLC26A3 P40879 solute carrier family 26 member 3 Transporter 1.4E-13 0.554 0.692 1 51
SLC7A7 Q9UM01 solute carrier family 7 member 7 Transporter 8.0E-07 0.603 0.654 1 46
ELP1 O95163 elongator complex protein 1 Enzyme modulator 2.1E-21 0.579 0.769 1 45
LRPPRC P42704 leucine rich pentatricopeptide repeat containing 2.3E-10 0.493 0.769 1 43
AMT P48728 aminomethyltransferase 2.7E-03 0.674 0.692 1 42
HGD Q93099 homogentisate 1,2-dioxygenase Enzyme 3.0E-08 0.631 0.577 1 42
ALDOB P05062 aldolase, fructose-bisphosphate B 7.9E-07 0.623 0.538 1 39
ACADS P16219 acyl-CoA dehydrogenase short chain 2.8E-06 0.663 0.538 1 38
CYP4F22 Q6NT55 cytochrome P450 family 4 subfamily F member 22 Enzyme 5.3E-06 0.705 0.462 1 38
HOGA1 Q86XE5 4-hydroxy-2-oxoglutarate aldolase 1 Enzyme 1.6E-14 0.792 0.192 1 37
CTSK P43235 cathepsin K Enzyme 3.1E-05 0.497 0.808 1 35
BCAP31 P51572 B cell receptor associated protein 31 Transporter 0.43 0.579 0.808 1 34
RANBP2 P49792 RAN binding protein 2 Enzyme modulator 1.00 0.578 0.615 1 31
STAR P49675 steroidogenic acute regulatory protein 8.8E-11 0.513 0.808 1 30
PRKCG P05129 protein kinase C gamma Kinase 1.00 0.617 0.500 1 29
PROP1 O75360 PROP paired-like homeobox 1 8.8E-02 0.576 0.615 1 29
EPG5 Q9HCE0 ectopic P-granules autophagy protein 5 homolog 1.4E-13 0.623 0.769 1 29
GATAD1 Q8WUU5 GATA zinc finger domain containing 1 0.43 0.736 0.385 1 28
ESCO2 Q56NI9 establishment of sister chromatid cohesion N-acetyltransferase 2 3.2E-07 0.581 0.615 1 28