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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 |
|---|---|---|---|---|---|
| C0011263 | Multi-infarct dementia | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C3714581 | Multicystic Dysplastic Kidney | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C3714581 | Multicystic Dysplastic Kidney | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C3714581 | Multicystic Dysplastic Kidney | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C3714581 | Multicystic Dysplastic Kidney | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C3714581 | Multicystic Dysplastic Kidney | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C3714581 | Multicystic Dysplastic Kidney | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C3714581 | Multicystic Dysplastic Kidney | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C3714581 | Multicystic Dysplastic Kidney | GPC3 | 2719 | glypican 3 | P51654 |
| C3714581 | Multicystic Dysplastic Kidney | CYP4A11 | 1579 | cytochrome P450 family 4 subfamily A member 11 | Q02928 |
| C3714581 | Multicystic Dysplastic Kidney | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C3714581 | Multicystic Dysplastic Kidney | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C0342208 | Multinodular goiter | LGALS3 | 3958 | galectin 3 | P17931 |
| C0342208 | Multinodular goiter | CYP24A1 | 1591 | cytochrome P450 family 24 subfamily A member 1 | Q07973 |
| C0268596 | Multiple Acyl Coenzyme A Dehydrogenase Deficiency | OGA | 10724 | O-GlcNAcase | O60502 |
| C0268596 | Multiple Acyl Coenzyme A Dehydrogenase Deficiency | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0268596 | Multiple Acyl Coenzyme A Dehydrogenase Deficiency | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0268596 | Multiple Acyl Coenzyme A Dehydrogenase Deficiency | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C0027662 | Multiple Endocrine Neoplasia | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C0027662 | Multiple Endocrine Neoplasia | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0027662 | Multiple Endocrine Neoplasia | CD109 | 135228 | CD109 molecule | Q6YHK3 |
| C0027662 | Multiple Endocrine Neoplasia | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0027662 | Multiple Endocrine Neoplasia | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C0027662 | Multiple Endocrine Neoplasia | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C0027662 | Multiple Endocrine Neoplasia | GFRA4 | 64096 | GDNF family receptor alpha 4 | Q9GZZ7 |
