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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 |
|---|---|---|---|---|---|
| C2609414 | Acute kidney injury | CYP27B1 | 1594 | cytochrome P450 family 27 subfamily B member 1 | O15528 |
| C2609414 | Acute kidney injury | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C2609414 | Acute kidney injury | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C2609414 | Acute kidney injury | LGALS3 | 3958 | galectin 3 | P17931 |
| C2609414 | Acute kidney injury | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C2609414 | Acute kidney injury | GPNMB | 10457 | glycoprotein nmb | Q14956 |
| C2609414 | Acute kidney injury | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
| C2609414 | Acute kidney injury | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C2609414 | Acute kidney injury | CYP2C9 | 1559 | cytochrome P450 family 2 subfamily C member 9 | P11712 |
| C2609414 | Acute kidney injury | EPHX2 | 2053 | epoxide hydrolase 2 | P34913 |
| C2609414 | Acute kidney injury | LPIN1 | 23175 | lipin 1 | Q14693 |
| C2609414 | Acute kidney injury | ALOX5 | 240 | arachidonate 5-lipoxygenase | P09917 |
| C2609414 | Acute kidney injury | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C2609414 | Acute kidney injury | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C2609414 | Acute kidney injury | DGKE | 8526 | diacylglycerol kinase epsilon | P52429 |
| C2673193 | Brugada Syndrome 2 | GPD1L | 23171 | glycerol-3-phosphate dehydrogenase 1 like | Q8N335 |
| C2673375 | Mucolipidosis III Alpha Beta, Atypical | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C2673377 | MUCOLIPIDOSIS II ALPHA/BETA (disorder) | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C2673377 | MUCOLIPIDOSIS II ALPHA/BETA (disorder) | NAGPA | 51172 | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase | Q9UK23 |
| C2673377 | MUCOLIPIDOSIS II ALPHA/BETA (disorder) | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
| C2673477 | Hypophosphatasia, Perinatal Lethal | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C2673635 | Combined Saposin Deficiency | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C2673635 | Combined Saposin Deficiency | PSAP | 5660 | prosaposin | P07602 |
| C2674173 | Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans | PLCG1 | 5335 | phospholipase C gamma 1 | P19174 |
| C2674218 | SPHEROCYTOSIS, TYPE 1 (disorder) | ACE | 1636 | angiotensin I converting enzyme | P12821 |
