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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 |
|---|---|---|---|---|---|
| C0007134 | Renal Cell Carcinoma | ALDOB | 229 | aldolase, fructose-bisphosphate B | P05062 |
| C0085682 | Hypophosphatemia | ALDOB | 229 | aldolase, fructose-bisphosphate B | P05062 |
| C0023890 | Liver Cirrhosis | ALDOB | 229 | aldolase, fructose-bisphosphate B | P05062 |
| C0020473 | Hyperlipidemia | INPP5F | 22876 | inositol polyphosphate-5-phosphatase F | Q9Y2H2 |
| C0006142 | Malignant neoplasm of breast | INPP5F | 22876 | inositol polyphosphate-5-phosphatase F | Q9Y2H2 |
| C0011849 | Diabetes Mellitus | INPP5F | 22876 | inositol polyphosphate-5-phosphatase F | Q9Y2H2 |
| C0020456 | Hyperglycemia | INPP5F | 22876 | inositol polyphosphate-5-phosphatase F | Q9Y2H2 |
| C0011847 | Diabetes | INPP5F | 22876 | inositol polyphosphate-5-phosphatase F | Q9Y2H2 |
| C0030567 | Parkinson Disease | INPP5F | 22876 | inositol polyphosphate-5-phosphatase F | Q9Y2H2 |
| C4082304 | Oligodontia | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C0029124 | Optic Atrophy | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C1854466 | Temtamy preaxial brachydactyly syndrome | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C0279987 | Childhood Malignant Peripheral Nerve Sheath Tumor | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C1621958 | Glioblastoma Multiforme | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C0013336 | Dwarfism | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C0006826 | Malignant Neoplasms | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C0017636 | Glioblastoma | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C2239176 | Liver carcinoma | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C4721453 | Peripheral Nervous System Diseases | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C0278878 | Adult Glioblastoma | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C1261473 | Sarcoma | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C0009402 | Colorectal Carcinoma | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C0039075 | Syndactyly | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C0027651 | Neoplasms | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C0020608 | Hypodontia | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
