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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 |
|---|---|---|---|---|---|
| C0038644 | Sudden infant death syndrome | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0038644 | Sudden infant death syndrome | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0038644 | Sudden infant death syndrome | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
| C0038644 | Sudden infant death syndrome | CYP2C9 | 1559 | cytochrome P450 family 2 subfamily C member 9 | P11712 |
| C0038644 | Sudden infant death syndrome | CYP2C8 | 1558 | cytochrome P450 family 2 subfamily C member 8 | P10632 |
| C0038644 | Sudden infant death syndrome | EPHX2 | 2053 | epoxide hydrolase 2 | P34913 |
| C0038644 | Sudden infant death syndrome | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C0038644 | Sudden infant death syndrome | CYP4F3 | 4051 | cytochrome P450 family 4 subfamily F member 3 | Q08477 |
| C0038644 | Sudden infant death syndrome | PRNP | 5621 | prion protein | F7VJQ1 |
| C3711369 | Succinate-Coa Ligase Deficiency | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C3711369 | Succinate-Coa Ligase Deficiency | SUCLG1 | 8802 | succinate-CoA ligase GDP/ADP-forming subunit alpha | P53597 |
| C0236969 | Substance-Related Disorders | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C0236969 | Substance-Related Disorders | CERS6 | 253782 | ceramide synthase 6 | Q6ZMG9 |
| C0236969 | Substance-Related Disorders | MACROD2 | 140733 | mono-ADP ribosylhydrolase 2 | A1Z1Q3 |
| C0236969 | Substance-Related Disorders | CDH13 | 1012 | cadherin 13 | P55290 |
| C0236969 | Substance-Related Disorders | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
| C0236969 | Substance-Related Disorders | PLA2R1 | 22925 | phospholipase A2 receptor 1 | Q13018 |
| C0236969 | Substance-Related Disorders | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0740858 | Substance abuse problem | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C0740858 | Substance abuse problem | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0740858 | Substance abuse problem | PARP9 | 83666 | poly(ADP-ribose) polymerase family member 9 | Q8IXQ6 |
| C0740858 | Substance abuse problem | CERS6 | 253782 | ceramide synthase 6 | Q6ZMG9 |
| C0740858 | Substance abuse problem | MAG | 4099 | myelin associated glycoprotein | P20916 |
| C0740858 | Substance abuse problem | GBA3 | 57733 | glucosylceramidase beta 3 (gene/pseudogene) | Q9H227 |
| C0740858 | Substance abuse problem | COLEC12 | 81035 | collectin subfamily member 12 | Q5KU26 |
