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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 |
|---|---|---|---|---|---|
| C0686353 | Muscular Dystrophies, Limb-Girdle | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0687120 | Nephronophthisis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0687120 | Nephronophthisis | MLYCD | 23417 | malonyl-CoA decarboxylase | O95822 |
| C0687120 | Nephronophthisis | UMOD | 7369 | uromodulin | P07911 |
| C0687120 | Nephronophthisis | AGXT | 189 | alanine--glyoxylate and serine--pyruvate aminotransferase | P21549 |
| C0687120 | Nephronophthisis | ALDH3A2 | 224 | aldehyde dehydrogenase 3 family member A2 | P51648 |
| C0687149 | Pure gonadal dysgenesis | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C0687150 | Parathyroid Gland Adenocarcinoma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0687150 | Parathyroid Gland Adenocarcinoma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0687150 | Parathyroid Gland Adenocarcinoma | LGALS3 | 3958 | galectin 3 | P17931 |
| C0687150 | Parathyroid Gland Adenocarcinoma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0687150 | Parathyroid Gland Adenocarcinoma | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C0687150 | Parathyroid Gland Adenocarcinoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0687150 | Parathyroid Gland Adenocarcinoma | AKR1C3 | 8644 | aldo-keto reductase family 1 member C3 | P42330 |
| C0687150 | Parathyroid Gland Adenocarcinoma | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0687150 | Parathyroid Gland Adenocarcinoma | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0687150 | Parathyroid Gland Adenocarcinoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0687150 | Parathyroid Gland Adenocarcinoma | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0687720 | Central Diabetes Insipidus | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0687720 | Central Diabetes Insipidus | H6PD | 9563 | hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase | O95479 |
| C0687720 | Central Diabetes Insipidus | ACOT8 | 10005 | acyl-CoA thioesterase 8 | O14734 |
| C0687720 | Central Diabetes Insipidus | PLA2G15 | 23659 | phospholipase A2 group XV | Q8NCC3 |
| C0687720 | Central Diabetes Insipidus | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
