Source: HPO

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
LMNA P02545 lamin A/C 1.00 0.384 0.885 425
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846 238
SDHD O14521 succinate dehydrogenase complex subunit D Transporter 0.34 0.472 0.885 212
VCP P55072 valosin containing protein 1.00 0.469 0.923 193
SDHB P21912 succinate dehydrogenase complex iron sulfur subunit B Enzyme 2.4E-04 0.474 0.846 176
BSCL2 Q96G97 BSCL2 lipid droplet biogenesis associated, seipin 1.1E-09 0.545 0.692 168
SDHA P31040 succinate dehydrogenase complex flavoprotein subunit A Enzyme 2.6E-10 0.517 0.731 168
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 2.2E-16 0.457 0.808 168
ATP7A Q04656 ATPase copper transporting alpha Transporter 1.00 0.494 0.769 152
SOX10 P56693 SRY-box transcription factor 10 0.99 0.461 0.808 116
COL13A1 Q5TAT6 collagen type XIII alpha 1 chain 3.7E-14 0.608 0.654 108
VAMP1 P23763 vesicle associated membrane protein 1 3.9E-03 0.628 0.538 108
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692 105
AGRN O00468 agrin 5.5E-07 0.626 0.538 103
PRPS1 P60891 phosphoribosyl pyrophosphate synthetase 1 Kinase 0.92 0.584 0.731 101
TBCE Q15813 tubulin folding cofactor E Chaperone 1.7E-08 0.575 0.692 97
SLC25A1 P53007 solute carrier family 25 member 1 Transporter 5.9E-02 0.553 0.731 93
ATXN2 Q99700 ataxin 2 Nucleic acid binding 0.85 0.482 0.808 91
KIF1B O60333 kinesin family member 1B Cellular structure 1.00 0.516 0.808 91
SLC5A7 Q9GZV3 solute carrier family 5 member 7 Transporter 1.5E-02 0.597 0.654 87
MYO9A B2RTY4 myosin IXA 0.49 0.647 0.500 84
CHAT P28329 choline O-acetyltransferase Enzyme 5.6E-11 0.520 0.808 83
PNPLA6 Q8IY17 patatin like phospholipase domain containing 6 Enzyme 1.9E-13 0.533 0.769 83
GNE Q9Y223 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Enzyme 2.5E-16 0.610 0.692 81