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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 |
|---|---|---|---|---|---|
| C0302314 | Xanthoma | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C0302314 | Xanthoma | G6PC | 2538 | glucose-6-phosphatase catalytic subunit | P35575 |
| C0302314 | Xanthoma | GPC1 | 2817 | glypican 1 | P35052 |
| C0302314 | Xanthoma | CYP27A1 | 1593 | cytochrome P450 family 27 subfamily A member 1 | Q02318 |
| C0302314 | Xanthoma | EPHX2 | 2053 | epoxide hydrolase 2 | P34913 |
| C0302314 | Xanthoma | ALOX5 | 240 | arachidonate 5-lipoxygenase | P09917 |
| C1337035 | Xanthogranulomatous cholecystitis | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C2752147 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C | MPG | 4350 | N-methylpurine DNA glycosylase | P29372 |
| C2752147 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C2752147 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C2752147 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C | CAT | 847 | catalase | P04040 |
| C2752147 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C2752147 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C2752147 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C4551511 | X-linked sideroblastic anemia | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C1839615 | X-linked myopathy with excessive autophagy | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Q9Y223 |
| C1839615 | X-linked myopathy with excessive autophagy | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C4552072 | X-linked infantile spasms | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C4552072 | X-linked infantile spasms | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C4552072 | X-linked infantile spasms | PLCB1 | 23236 | phospholipase C beta 1 | Q9NQ66 |
| C4552072 | X-linked infantile spasms | CACNA2D2 | 9254 | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Q9NY47 |
| C4552072 | X-linked infantile spasms | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C3275445 | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia | CD38 | 952 | CD38 molecule | P28907 |
| C3275445 | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia | KLRK1 | 22914 | killer cell lectin like receptor K1 | P26718 |
| C3275445 | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia | CD22 | 933 | CD22 molecule | P20273 |
