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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 |
|---|---|---|---|---|---|
| C0268237 | Cytochrome-c Oxidase Deficiency | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0268238 | Triglyceride storage disease with ichthyosis | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0268238 | Triglyceride storage disease with ichthyosis | AGK | 55750 | acylglycerol kinase | Q53H12 |
| C0268238 | Triglyceride storage disease with ichthyosis | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0268238 | Triglyceride storage disease with ichthyosis | DGAT1 | 8694 | diacylglycerol O-acyltransferase 1 | O75907 |
| C0268238 | Triglyceride storage disease with ichthyosis | LPIN2 | 9663 | lipin 2 | Q92539 |
| C0268238 | Triglyceride storage disease with ichthyosis | PEMT | 10400 | phosphatidylethanolamine N-methyltransferase | Q9UBM1 |
| C0268242 | Niemann-Pick Disease, Type A | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
| C0268242 | Niemann-Pick Disease, Type A | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C0268243 | Niemann-Pick Disease, Type B | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
| C0268243 | Niemann-Pick Disease, Type B | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C0268243 | Niemann-Pick Disease, Type B | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0268247 | Niemann-Pick Disease, Type D | LIPA | 3988 | lipase A, lysosomal acid type | P38571 |
| C0268248 | Niemann-Pick Disease, Type E | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
| C0268250 | Gaucher Disease, Type 2 (disorder) | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0268250 | Gaucher Disease, Type 2 (disorder) | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C0268250 | Gaucher Disease, Type 2 (disorder) | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0268251 | Gaucher Disease, Type 3 (disorder) | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0268251 | Gaucher Disease, Type 3 (disorder) | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C0268251 | Gaucher Disease, Type 3 (disorder) | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0268252 | Late-Onset Globoid Cell Leukodystrophy | GALC | 2581 | galactosylceramidase | P54803 |
| C0268252 | Late-Onset Globoid Cell Leukodystrophy | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0268255 | Farber Lipogranulomatosis | GALC | 2581 | galactosylceramidase | P54803 |
| C0268255 | Farber Lipogranulomatosis | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0268255 | Farber Lipogranulomatosis | PSAP | 5660 | prosaposin | P07602 |
