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DisGeNET
DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
| Source | Last Updated |
|---|---|
| DisGeNET | July 29, 2024 |
| Disease ID | Disease Name ▼ | Gene Symbol | Gene ID | Gene Name | UniProt ID |
|---|---|---|---|---|---|
| C0149654 | Conduct Disorder | GLDC | 2731 | glycine decarboxylase | P23378 |
| C0149654 | Conduct Disorder | ARSD | 414 | arylsulfatase D | P51689 |
| C0149654 | Conduct Disorder | BST2 | 684 | bone marrow stromal cell antigen 2 | Q10589 |
| C0037926 | Compression of spinal cord | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0037926 | Compression of spinal cord | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0037926 | Compression of spinal cord | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
| C0037926 | Compression of spinal cord | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0037926 | Compression of spinal cord | ARSB | 411 | arylsulfatase B | P15848 |
| C0037926 | Compression of spinal cord | CD38 | 952 | CD38 molecule | P28907 |
| C0037926 | Compression of spinal cord | CNTN3 | 5067 | contactin 3 | Q9P232 |
| C0037926 | Compression of spinal cord | MINPP1 | 9562 | multiple inositol-polyphosphate phosphatase 1 | Q9UNW1 |
| C0037926 | Compression of spinal cord | HMGCS1 | 3157 | 3-hydroxy-3-methylglutaryl-CoA synthase 1 | Q01581 |
| C2875367 | Complex regional pain syndrome I, unspecified | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0458219 | Complex Regional Pain Syndromes | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0458219 | Complex Regional Pain Syndromes | IL1R1 | 3554 | interleukin 1 receptor type 1 | P14778 |
| C0795887 | Complex Glycerol Kinase Deficiency | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
| C0795887 | Complex Glycerol Kinase Deficiency | GK | 2710 | glycerol kinase | P32189 |
| C0152096 | Complete trisomy 18 syndrome | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C0152096 | Complete trisomy 18 syndrome | CD38 | 952 | CD38 molecule | P28907 |
| C0678213 | Complete hydatidiform mole | PGM1 | 5236 | phosphoglucomutase 1 | P36871 |
| C0678213 | Complete hydatidiform mole | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0678213 | Complete hydatidiform mole | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0272242 | Complement deficiency disease | CALR | 811 | calreticulin | P27797 |
| C0272242 | Complement deficiency disease | MASP2 | 10747 | mannan binding lectin serine peptidase 2 | O00187 |
| C0272242 | Complement deficiency disease | CD55 | 1604 | CD55 molecule (Cromer blood group) | P08174 |
