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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 ▲ |
|---|---|---|---|---|---|
| C0149925 | Small cell carcinoma of lung | GLCE | 26035 | glucuronic acid epimerase | O94923 |
| C3642345 | Luminal A Breast Carcinoma | GLCE | 26035 | glucuronic acid epimerase | O94923 |
| C0002736 | Amyotrophic Lateral Sclerosis | GLCE | 26035 | glucuronic acid epimerase | O94923 |
| C0020538 | Hypertensive disease | GLCE | 26035 | glucuronic acid epimerase | O94923 |
| C0338451 | Frontotemporal dementia | GLCE | 26035 | glucuronic acid epimerase | O94923 |
| C0684249 | Carcinoma of lung | GLCE | 26035 | glucuronic acid epimerase | O94923 |
| C0242379 | Malignant neoplasm of lung | GLCE | 26035 | glucuronic acid epimerase | O94923 |
| C0033578 | Prostatic Neoplasms | GLCE | 26035 | glucuronic acid epimerase | O94923 |
| C1306459 | Primary malignant neoplasm | GLCE | 26035 | glucuronic acid epimerase | O94923 |
| C1510586 | Autism Spectrum Disorders | UPP2 | 151531 | uridine phosphorylase 2 | O95045 |
| C0011847 | Diabetes | UPP2 | 151531 | uridine phosphorylase 2 | O95045 |
| C0006826 | Malignant Neoplasms | UPP2 | 151531 | uridine phosphorylase 2 | O95045 |
| C1861305 | TARSAL-CARPAL COALITION SYNDROME | UPP2 | 151531 | uridine phosphorylase 2 | O95045 |
| C1269683 | Major Depressive Disorder | UPP2 | 151531 | uridine phosphorylase 2 | O95045 |
| C0007138 | Carcinoma, Transitional Cell | UPP2 | 151531 | uridine phosphorylase 2 | O95045 |
| C0027651 | Neoplasms | UPP2 | 151531 | uridine phosphorylase 2 | O95045 |
| C0007137 | Squamous cell carcinoma | UPP2 | 151531 | uridine phosphorylase 2 | O95045 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | UPP2 | 151531 | uridine phosphorylase 2 | O95045 |
| C0036341 | Schizophrenia | CSPG5 | 10675 | chondroitin sulfate proteoglycan 5 | O95196 |
| C0175695 | Sotos' syndrome | CSPG5 | 10675 | chondroitin sulfate proteoglycan 5 | O95196 |
| C0011311 | Dengue Fever | CSPG5 | 10675 | chondroitin sulfate proteoglycan 5 | O95196 |
| C0342751 | Generalized glycogen storage disease of infants | STBD1 | 8987 | starch binding domain 1 | O95210 |
| C0017921 | Glycogen storage disease type II | STBD1 | 8987 | starch binding domain 1 | O95210 |
| C0030567 | Parkinson Disease | STBD1 | 8987 | starch binding domain 1 | O95210 |
| C0007103 | Malignant neoplasm of endometrium | MBD4 | 8930 | methyl-CpG binding domain 4, DNA glycosylase | O95243 |
