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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 |
|---|---|---|---|---|---|
| C0796074 | MOHR-TRANEBJAERG SYNDROME | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0796074 | MOHR-TRANEBJAERG SYNDROME | MUTYH | 4595 | mutY DNA glycosylase | Q9UIF7 |
| C0796074 | MOHR-TRANEBJAERG SYNDROME | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0796074 | MOHR-TRANEBJAERG SYNDROME | TPI1 | 7167 | triosephosphate isomerase 1 | P60174 |
| C0796074 | MOHR-TRANEBJAERG SYNDROME | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0796074 | MOHR-TRANEBJAERG SYNDROME | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0796070 | MICROPHTHALMIA, SYNDROMIC 7 | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0796070 | MICROPHTHALMIA, SYNDROMIC 7 | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0796070 | MICROPHTHALMIA, SYNDROMIC 7 | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0796070 | MICROPHTHALMIA, SYNDROMIC 7 | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0796070 | MICROPHTHALMIA, SYNDROMIC 7 | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0796070 | MICROPHTHALMIA, SYNDROMIC 7 | GOLPH3 | 64083 | golgi phosphoprotein 3 | Q9H4A6 |
| C0796070 | MICROPHTHALMIA, SYNDROMIC 7 | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0796059 | Oculopalatoskeletal syndrome | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0796059 | Oculopalatoskeletal syndrome | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C0796032 | Malpuech facial clefting syndrome | COLEC10 | 10584 | collectin subfamily member 10 | Q9Y6Z7 |
| C0796032 | Malpuech facial clefting syndrome | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0796032 | Malpuech facial clefting syndrome | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C0796028 | ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0796012 | Krause-Kivlin syndrome | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0796012 | Krause-Kivlin syndrome | POFUT2 | 23275 | protein O-fucosyltransferase 2 | Q9Y2G5 |
| C0796012 | Krause-Kivlin syndrome | B3GALT1 | 8708 | beta-1,3-galactosyltransferase 1 | Q9Y5Z6 |
| C0796004 | Kabuki make-up syndrome | MACROD2 | 140733 | mono-ADP ribosylhydrolase 2 | A1Z1Q3 |
| C0795956 | Chylomicron retention disease | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0795953 | MASA SYNDROME (disorder) | CANX | 821 | calnexin | P27824 |
