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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 |
|---|---|---|---|---|---|
| C1848745 | Oliver-McFarlane syndrome | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C1848913 | Tay-Sachs Disease, Juvenile | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C1848914 | Hexosaminidase A Deficiency, Adult Type | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C1848916 | Tay-Sachs Disease, Variant B1 | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C1848916 | Tay-Sachs Disease, Variant B1 | ARSA | 410 | arylsulfatase A | P15289 |
| C1848922 | Hexosaminidase alpha-Subunit Deficiency (Variant B) | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C1848922 | Hexosaminidase alpha-Subunit Deficiency (Variant B) | OGA | 10724 | O-GlcNAcase | O60502 |
| C1848934 | SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME | CS | 1431 | citrate synthase | O75390 |
| C1848934 | SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C1848934 | SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C1848934 | SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C1848934 | SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME | CAT | 847 | catalase | P04040 |
| C1849115 | SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder) | CYP7B1 | 9420 | cytochrome P450 family 7 subfamily B member 1 | O75881 |
| C1849193 | PEELING SKIN SYNDROME | CHST8 | 64377 | carbohydrate sulfotransferase 8 | Q9H2A9 |
| C1849193 | PEELING SKIN SYNDROME | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C1849193 | PEELING SKIN SYNDROME | KLRB1 | 3820 | killer cell lectin like receptor B1 | Q12918 |
| C1849193 | PEELING SKIN SYNDROME | BST2 | 684 | bone marrow stromal cell antigen 2 | Q10589 |
| C1849320 | Sandhoff Disease, Adult Type | HEXB | 3074 | hexosaminidase subunit beta | P07686 |
| C1849321 | Sandhoff Disease, Juvenile Type | HEXB | 3074 | hexosaminidase subunit beta | P07686 |
| C1849322 | Sandhoff Disease, Infantile Type | HEXB | 3074 | hexosaminidase subunit beta | P07686 |
| C1849386 | Myoglobinuria, Acute Recurrent, Autosomal Recessive | LPIN1 | 23175 | lipin 1 | Q14693 |
| C1849394 | Enhanced S-Cone Syndrome | NYX | 60506 | nyctalopin | Q9GZU5 |
| C1849678 | Peroxisomal ACYL-COA oxidase deficiency | ACOX1 | 51 | acyl-CoA oxidase 1 | Q15067 |
| C1849792 | Achromatopsia 3 | NYX | 60506 | nyctalopin | Q9GZU5 |
| C1850318 | Omodysplasia type 1 | GPC6 | 10082 | glypican 6 | Q9Y625 |
