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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 ▲ |
|---|---|---|---|---|---|
| C1306459 | Primary malignant neoplasm | HKDC1 | 80201 | hexokinase domain containing 1 | Q2TB90 |
| C0020456 | Hyperglycemia | HKDC1 | 80201 | hexokinase domain containing 1 | Q2TB90 |
| C0022578 | Keratoconus | HKDC1 | 80201 | hexokinase domain containing 1 | Q2TB90 |
| C0009402 | Colorectal Carcinoma | HKDC1 | 80201 | hexokinase domain containing 1 | Q2TB90 |
| C0678222 | Breast Carcinoma | HKDC1 | 80201 | hexokinase domain containing 1 | Q2TB90 |
| C0027651 | Neoplasms | HKDC1 | 80201 | hexokinase domain containing 1 | Q2TB90 |
| C0006142 | Malignant neoplasm of breast | HKDC1 | 80201 | hexokinase domain containing 1 | Q2TB90 |
| C0023467 | Leukemia, Myelocytic, Acute | PGS1 | 9489 | phosphatidylglycerophosphate synthase 1 | Q32NB8 |
| C2239176 | Liver carcinoma | UAP1L1 | 91373 | UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 | Q3KQV9 |
| C0023903 | Liver neoplasms | UAP1L1 | 91373 | UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 | Q3KQV9 |
| C0011847 | Diabetes | TKFC | 26007 | triokinase and FMN cyclase | Q3LXA3 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | TKFC | 26007 | triokinase and FMN cyclase | Q3LXA3 |
| C0086543 | Cataract | TKFC | 26007 | triokinase and FMN cyclase | Q3LXA3 |
| C0086565 | Liver Dysfunction | TKFC | 26007 | triokinase and FMN cyclase | Q3LXA3 |
| C0011849 | Diabetes Mellitus | TKFC | 26007 | triokinase and FMN cyclase | Q3LXA3 |
| C0030319 | Panic Disorder | PLA2G4E | 123745 | phospholipase A2 group IVE | Q3MJ16 |
| C0037369 | Smoking | PLA2G4E | 123745 | phospholipase A2 group IVE | Q3MJ16 |
| C0020490 | Hyperopia | PIGY | 84992 | phosphatidylinositol glycan anchor biosynthesis class Y | Q3MUY2 |
| C0036572 | Seizures | PIGY | 84992 | phosphatidylinositol glycan anchor biosynthesis class Y | Q3MUY2 |
| C0019569 | Hirschsprung Disease | PIGY | 84992 | phosphatidylinositol glycan anchor biosynthesis class Y | Q3MUY2 |
| C0020224 | Polyhydramnios | PIGY | 84992 | phosphatidylinositol glycan anchor biosynthesis class Y | Q3MUY2 |
| C0221356 | Brachycephaly | PIGY | 84992 | phosphatidylinositol glycan anchor biosynthesis class Y | Q3MUY2 |
| C0241005 | Creatine phosphokinase serum increased | PIGY | 84992 | phosphatidylinositol glycan anchor biosynthesis class Y | Q3MUY2 |
| C0000768 | Congenital Abnormality | PIGY | 84992 | phosphatidylinositol glycan anchor biosynthesis class Y | Q3MUY2 |
| C0079924 | Oligohydramnios | PIGY | 84992 | phosphatidylinositol glycan anchor biosynthesis class Y | Q3MUY2 |
