Disease: Type II Mucolipidosis
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
APRT P07741 adenine phosphoribosyltransferase 5.5E-13 0.423 0.846
CALCR P30988 calcitonin receptor G-protein coupled receptor 3.1E-09 0.464 0.846
CALR P27797 calreticulin Calcium-binding protein 0.89 0.413 0.923
CCL2 P13500 C-C motif chemokine ligand 2 Signaling 0.61 0.321 0.962
CXCL2 P19875 C-X-C motif chemokine ligand 2 Signaling 3.6E-07 0.513 0.885
DSCAML1 Q8TD84 DS cell adhesion molecule like 1 1.00 0.839 0.346
ENTPD1 P49961 ectonucleoside triphosphate diphosphohydrolase 1 Enzyme 8.1E-03 0.499 0.769
FLG P20930 filaggrin Cellular structure 2.9E-04 0.525 0.846
GADD45A P24522 growth arrest and DNA damage inducible alpha 4.4E-02 0.526 0.769
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
IL1B P01584 interleukin 1 beta 0.13 0.276 0.962
IL22 Q9GZX6 interleukin 22 1.9E-04 0.393 0.885
IL23R Q5VWK5 interleukin 23 receptor Signaling 5.6E-04 0.466 0.769
IL6 P05231 interleukin 6 0.32 0.248 0.962
IL6R P08887 interleukin 6 receptor Signaling 3.2E-05 0.471 0.846
LMNA P02545 lamin A/C 1.00 0.384 0.885
MFAP1 P55081 microfibril associated protein 1 Extracellular structure 0.80 0.431 0.846
NPPB P16860 natriuretic peptide B 9.9E-06 0.513 0.808
NQO1 P15559 NAD(P)H quinone dehydrogenase 1 1.2E-09 0.434 0.885
PIM1 P11309 Pim-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.482 0.769
PLAT P00750 plasminogen activator, tissue type Enzyme 5.7E-05 0.445 0.885
PLCD1 P51178 phospholipase C delta 1 Enzyme 1.7E-19 0.636 0.577
PLCG1 P19174 phospholipase C gamma 1 Enzyme 7.9E-05 0.564 0.692
RYR2 Q92736 ryanodine receptor 2 Ion channel 1.00 0.539 0.615
SLC6A3 Q01959 solute carrier family 6 member 3 Transporter 1.00 0.453 0.885