Disease: Generalized glycogen storage disease of infants
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AAVS1 adeno-associated virus integration site 1 0.595 0.731
ACE P12821 angiotensin I converting enzyme Enzyme 1.0E-37 0.328 0.923
ACTN3 Q08043 actinin alpha 3 (gene/pseudogene) 0.663 0.500
AMD1 P17707 adenosylmethionine decarboxylase 1 Enzyme 0.98 0.593 0.577
AMD1P2 adenosylmethionine decarboxylase 1 pseudogene 2 0.608 0.538
ARSB P15848 arylsulfatase B 7.0E-09 0.595 0.692
CCDC40 Q4G0X9 coiled-coil domain containing 40 3.8E-17 0.656 0.538
CPT2 P23786 carnitine palmitoyltransferase 2 Enzyme 4.6E-10 0.542 0.769
DES P17661 desmin 8.8E-03 0.460 0.846
DHFR P00374 dihydrofolate reductase Enzyme 3.4E-02 0.513 0.808
ELF3 P78545 E74 like ETS transcription factor 3 Transcription factor 0.98 0.551 0.808
FUT1 P19526 fucosyltransferase 1 (H blood group) Enzyme 5.5E-04 0.541 0.692
G6PC P35575 glucose-6-phosphatase catalytic subunit 1.8E-05 0.560 0.692
GAA P10253 glucosidase alpha, acid Enzyme 2.8E-18 0.631 0.577
GALC P54803 galactosylceramidase 5.2E-15 0.604 0.615
GBE1 Q04446 1,4-alpha-glucan branching enzyme 1 Enzyme 1.1E-12 0.612 0.654
GLA P06280 galactosidase alpha 1.00 0.537 0.769
GYG1 P46976 glycogenin 1 Enzyme 4.8E-12 0.722 0.308
IDS P22304 iduronate 2-sulfatase 0.95 0.559 0.769
IDUA P35475 alpha-L-iduronidase Enzyme 3.8E-13 0.499 0.846
IGF2R P11717 insulin like growth factor 2 receptor Receptor 1.00 0.518 0.731
IGFALS P35858 insulin like growth factor binding protein acid labile subunit Receptor 5.4E-11 0.511 0.846
IKZF2 Q9UKS7 IKAROS family zinc finger 2 Transcription factor 0.99 0.656 0.500
LAMP2 P13473 lysosomal associated membrane protein 2 Transporter 0.27 0.552 0.731
LINC01672 long intergenic non-protein coding RNA 1672 0.462 0.846