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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 |
|---|---|---|---|---|---|
| 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 |
| C0687149 | Pure gonadal dysgenesis | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| 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 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | FKTN | 2218 | fukutin | O75072 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | DPM3 | 54344 | dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Q9P2X0 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Q9Y223 |
