Source: HPO

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
PDHB P11177 pyruvate dehydrogenase E1 subunit beta 0.15 0.711 0.385 2
VARS2 Q5ST30 valyl-tRNA synthetase 2, mitochondrial 5.8E-17 0.666 0.577 2
ACACA Q13085 acetyl-CoA carboxylase alpha 1.00 0.480 0.846 3
TSEN15 Q8WW01 tRNA splicing endonuclease subunit 15 0.28 0.769 0.115 4
ACP2 P11117 acid phosphatase 2, lysosomal Enzyme 6.2E-05 0.780 0.346 5
ACAT2 Q9BWD1 acetyl-CoA acetyltransferase 2 Enzyme 5.5E-07 0.686 0.462 6
CCDC78 A2IDD5 coiled-coil domain containing 78 3.0E-31 0.760 0.115 6
DNAJC12 Q9UKB3 DnaJ heat shock protein family (Hsp40) member C12 2.1E-06 0.705 0.423 6
KCNQ5 Q9NR82 potassium voltage-gated channel subfamily Q member 5 Ion channel 0.98 0.686 0.500 6
SLC13A3 Q8WWT9 solute carrier family 13 member 3 Transporter 9.5E-07 0.821 0.308 6
CIC Q96RK0 capicua transcriptional repressor 1.00 0.523 0.692 7
ELAC2 Q9BQ52 elaC ribonuclease Z 2 1.7E-20 0.670 0.346 7
TPK1 Q9H3S4 thiamin pyrophosphokinase 1 Kinase 9.1E-02 0.792 0.269 7
TUBB2A Q13885 tubulin beta 2A class IIa Cellular structure 0.93 0.678 0.538 7
UQCC3 Q6UW78 ubiquinol-cytochrome c reductase complex assembly factor 3 3.2E-02 0.839 0.038 7
CAMK2B Q13554 calcium/calmodulin dependent protein kinase II beta Kinase 0.74 0.626 0.538 8
COLGALT1 Q8NBJ5 collagen beta(1-O)galactosyltransferase 1 Enzyme 5.9E-08 0.760 0.346 8
KCNT2 Q6UVM3 potassium sodium-activated channel subfamily T member 2 4.2E-02 0.711 0.308 8
MAST1 Q9Y2H9 microtubule associated serine/threonine kinase 1 Kinase 1.00 0.711 0.385 8
PCBD1 P61457 pterin-4 alpha-carbinolamine dehydratase 1 Enzyme 3.3E-04 0.623 0.769 8
TARS2 Q9BW92 threonyl-tRNA synthetase 2, mitochondrial Enzyme 1.2E-12 0.729 0.423 8
B4GALT1 P15291 beta-1,4-galactosyltransferase 1 Enzyme 3.7E-02 0.674 0.538 9
CD59 P13987 CD59 molecule (CD59 blood group) 0.61 0.469 0.808 9
FLAD1 Q8NFF5 flavin adenine dinucleotide synthetase 1 9.4E-03 0.638 0.692 9