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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 |
|---|---|---|---|---|---|
| C0003851 | Arteriosclerosis Obliterans | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0003851 | Arteriosclerosis Obliterans | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0003851 | Arteriosclerosis Obliterans | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0003851 | Arteriosclerosis Obliterans | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0003857 | Congenital arteriovenous malformation | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C0003857 | Congenital arteriovenous malformation | GUSB | 2990 | glucuronidase beta | P08236 |
| C0003857 | Congenital arteriovenous malformation | DLAT | 1737 | dihydrolipoamide S-acetyltransferase | P10515 |
| C0003857 | Congenital arteriovenous malformation | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0003857 | Congenital arteriovenous malformation | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0003857 | Congenital arteriovenous malformation | EFNA1 | 1942 | ephrin A1 | P20827 |
| C0003857 | Congenital arteriovenous malformation | ANXA5 | 308 | annexin A5 | P08758 |
| C0003857 | Congenital arteriovenous malformation | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0003857 | Congenital arteriovenous malformation | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0003857 | Congenital arteriovenous malformation | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C0003857 | Congenital arteriovenous malformation | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0003857 | Congenital arteriovenous malformation | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0003857 | Congenital arteriovenous malformation | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0003857 | Congenital arteriovenous malformation | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0003857 | Congenital arteriovenous malformation | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0003860 | Arteritis | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C0003864 | Arthritis | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C0003864 | Arthritis | HAS1 | 3036 | hyaluronan synthase 1 | Q92839 |
| C0003864 | Arthritis | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C0003864 | Arthritis | ST3GAL5 | 8869 | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Q9UNP4 |
| C0003864 | Arthritis | AGA | 175 | aspartylglucosaminidase | P20933 |
