Disease ID | Disease name | Source of annotation with NDST1 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS249500 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE | ClinVar, OMIM, HUMSAVAR | 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 |
---|---|---|
Glycosaminoglycan biosynthesis - heparan sulfate / heparin | hsa00534 | 8.12 |
Metabolic pathways | hsa01100 | 2.49 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Glycosaminoglycan metabolism | R-HSA-1630316 | 6.04 |
HS-GAG biosynthesis | R-HSA-2022928 | 8.03 |
Metabolism | R-HSA-1430728 | 2.34 |
Metabolism of carbohydrates | R-HSA-71387 | 4.93 |
Heparan sulfate/heparin (HS-GAG) metabolism | R-HSA-1638091 | 7.2 |
GO term | GO ID | GO IC |
---|---|---|
hydrolase activity | GO:0016787 | 1.9 |
deacetylase activity | GO:0019213 | 5.7 |
transferase activity, transferring sulfur-containing groups | GO:0016782 | 5.52 |
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds | GO:0016810 | 4.76 |
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides | GO:0016811 | 5.28 |
sulfotransferase activity | GO:0008146 | 5.77 |
N-acetylglucosamine deacetylase activity | GO:0050119 | 9.05 |
catalytic activity | GO:0003824 | 1.05 |
transferase activity | GO:0016740 | 1.95 |
[heparan sulfate]-glucosamine N-sulfotransferase activity | GO:0015016 | 8.13 |
heparan sulfate sulfotransferase activity | GO:0034483 | 6.97 |