Disease ID | Disease name | Source of annotation with TUSC3 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS249500 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE | ClinVar, OMIM | link to OMIM | 31 | ADAT3, NDST1, GPT2, PIGG, FMN2, TTI2, PGAP1, HNMT, EDC3, NSUN2, KPTN, GRIK2, TAF2, KIAA1033, MED23, PRSS12, FBXO31, LINS1, HERC2, CC2D1A, METTL23, TUSC3, ST3GAL3, TECR, CRADD, MAN1B1, SLC6A17, ANK3, CRBN, TRAPPC9, LMAN2L |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Protein processing in endoplasmic reticulum | hsa04141 | 5.35 |
N-Glycan biosynthesis | hsa00510 | 7.07 |
Metabolic pathways | hsa01100 | 2.49 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Post-translational protein modification | R-HSA-597592 | 4.54 |
Metabolism of proteins | R-HSA-392499 | 3.41 |
Miscellaneous transport and binding events | R-HSA-5223345 | 8.66 |
Transmembrane transport of small molecules | R-HSA-382551 | 3.79 |
Asparagine N-linked glycosylation | R-HSA-446203 | 6.1 |
GO term | GO ID | GO IC |
---|---|---|
substrate-specific transmembrane transporter activity | GO:0022891 | 2.9 |
inorganic cation transmembrane transporter activity | GO:0022890 | 3.49 |
substrate-specific transporter activity | GO:0022892 | 2.72 |
transporter activity | GO:0005215 | 2.57 |
cation transmembrane transporter activity | GO:0008324 | 3.32 |
transmembrane transporter activity | GO:0022857 | 2.82 |
divalent inorganic cation transmembrane transporter activity | GO:0072509 | 4.62 |
ion transmembrane transporter activity | GO:0015075 | 3.04 |
catalytic activity | GO:0003824 | 1.05 |
transferase activity | GO:0016740 | 1.95 |
oligosaccharyl transferase activity | GO:0004576 | 7.54 |
transferase activity, transferring glycosyl groups | GO:0016757 | 4.08 |
transferase activity, transferring hexosyl groups | GO:0016758 | 4.43 |
metal ion transmembrane transporter activity | GO:0046873 | 3.71 |
dolichyl-diphosphooligosaccharide-protein glycotransferase activity | GO:0004579 | 7.66 |
magnesium ion transmembrane transporter activity | GO:0015095 | 6.97 |