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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 |
|---|---|---|---|---|---|
| C0020608 | Hypodontia | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C0678222 | Breast Carcinoma | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C1306459 | Primary malignant neoplasm | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C0278622 | Adult Malignant Peripheral Nerve Sheath Tumor | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C0751690 | Malignant Peripheral Nerve Sheath Tumor | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C0006142 | Malignant neoplasm of breast | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C3714524 | Fibromyxosarcoma | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C0452138 | Sensorineural hearing loss, bilateral | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| 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 |
| C0016751 | Hereditary fructose intolerance syndrome | ALDOB | 229 | aldolase, fructose-bisphosphate B | P05062 |
| C0268435 | Renal Tubular Acidosis, Type II | ALDOB | 229 | aldolase, fructose-bisphosphate B | P05062 |
| C0400966 | Non-alcoholic Fatty Liver Disease | ALDOB | 229 | aldolase, fructose-bisphosphate B | P05062 |
| C0162557 | Liver Failure, Acute | ALDOB | 229 | aldolase, fructose-bisphosphate B | P05062 |
| C0009402 | Colorectal Carcinoma | ALDOB | 229 | aldolase, fructose-bisphosphate B | P05062 |
| C2711227 | Steatohepatitis | ALDOB | 229 | aldolase, fructose-bisphosphate B | P05062 |
| C0038356 | Stomach Neoplasms | ALDOB | 229 | aldolase, fructose-bisphosphate B | P05062 |
| C2239176 | Liver carcinoma | ALDOB | 229 | aldolase, fructose-bisphosphate B | P05062 |
| C0009806 | Constipation | ALDOB | 229 | aldolase, fructose-bisphosphate B | P05062 |
| C0029823 | Other specified peritonitis | ALDOB | 229 | aldolase, fructose-bisphosphate B | P05062 |
