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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 |
|---|---|---|---|---|---|
| C2673377 | MUCOLIPIDOSIS II ALPHA/BETA (disorder) | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
| C2673375 | Mucolipidosis III Alpha Beta, Atypical | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C2673193 | Brugada Syndrome 2 | GPD1L | 23171 | glycerol-3-phosphate dehydrogenase 1 like | Q8N335 |
| C2609414 | Acute kidney injury | HEXB | 3074 | hexosaminidase subunit beta | P07686 |
| C2609414 | Acute kidney injury | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C2609414 | Acute kidney injury | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C2609414 | Acute kidney injury | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C2609414 | Acute kidney injury | UGT1A9 | 54600 | UDP glucuronosyltransferase family 1 member A9 | O60656 |
| 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 |
| C2609129 | Autoimmune pancreatitis | ENO1 | 2023 | enolase 1 | P06733 |
| C2609129 | Autoimmune pancreatitis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
