Source: HPO

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
HIBCH Q6NVY1 3-hydroxyisobutyryl-CoA hydrolase Enzyme 2.6E-13 0.700 0.500 48
PTS Q03393 6-pyruvoyltetrahydropterin synthase 6.5E-06 0.636 0.654 51
ACOX1 Q15067 acyl-CoA oxidase 1 Enzyme 6.2E-02 0.610 0.731 54
ACSF3 Q4G176 acyl-CoA synthetase family member 3 Enzyme 2.3E-26 0.743 0.308 27
AP3D1 O14617 adaptor related protein complex 3 subunit delta 1 Transporter 0.99 0.678 0.385 33
AP4B1 Q9Y6B7 adaptor related protein complex 4 subunit beta 1 Transporter 1.3E-09 0.631 0.654 51
AP4E1 Q9UPM8 adaptor related protein complex 4 subunit epsilon 1 Receptor 2.8E-03 0.656 0.385 60
AP4M1 O00189 adaptor related protein complex 4 subunit mu 1 Extracellular structure 4.5E-17 0.638 0.500 54
AP4S1 Q9Y587 adaptor related protein complex 4 subunit sigma 1 Transporter 1.7E-06 0.674 0.385 53
ADAR P55265 adenosine deaminase RNA specific Enzyme 2.6E-02 0.501 0.808 112
ADCY5 O95622 adenylate cyclase 5 1.00 0.617 0.577 18
AFG3L2 Q9Y4W6 AFG3 like matrix AAA peptidase subunit 2 Enzyme 5.3E-09 0.588 0.462 57
AARS2 Q5JTZ9 alanyl-tRNA synthetase 2, mitochondrial Nucleic acid binding 5.0E-17 0.644 0.500 26
ADH1C P00326 alcohol dehydrogenase 1C (class I), gamma polypeptide Enzyme 0.547 0.731 27
ALDH6A1 Q02252 aldehyde dehydrogenase 6 family member A1 Enzyme 7.6E-10 0.716 0.462 22
ACER3 Q9NUN7 alkaline ceramidase 3 0.87 0.743 0.423 25
TTPA P49638 alpha tocopherol transfer protein Transporter 1.4E-03 0.612 0.577 35
AIMP1 Q12904 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 Enzyme 3.0E-07 0.566 0.769 64
APTX Q7Z2E3 aprataxin Nucleic acid binding 4.0E-10 0.590 0.500 32
RSRC1 Q96IZ7 arginine and serine rich coiled-coil 1 7.5E-05 0.650 0.462 45
RARS1 P54136 arginyl-tRNA synthetase 1 3.3E-08 0.604 0.538 34
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654 179
ARV1 Q9H2C2 ARV1 homolog, fatty acid homeostasis modulator 3.6E-06 0.691 0.423 51
ARSA P15289 arylsulfatase A Enzyme 1.1E-11 0.448 0.923 68