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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 ▼ |
|---|---|---|---|---|---|
| C1332977 | Childhood Leukemia | UMOD | 7369 | uromodulin | P07911 |
| C0085548 | Autosomal Recessive Polycystic Kidney Disease | UMOD | 7369 | uromodulin | P07911 |
| C0024138 | Lupus Erythematosus, Discoid | UMOD | 7369 | uromodulin | P07911 |
| C0268151 | Classical galactosemia | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
| C0016952 | Galactosemias | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
| C0007758 | Cerebellar Ataxia | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
| C0750927 | Apraxia, Developmental Verbal | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
| C0264611 | Apraxia of Phonation | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
| C0025322 | Premature Menopause | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
| C0011991 | Diarrhea | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
| C0023903 | Liver neoplasms | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
| C0014175 | Endometriosis | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
| C0001925 | Albuminuria | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
| C0085215 | Ovarian Failure, Premature | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
| C0023895 | Liver diseases | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
| C3714756 | Intellectual Disability | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
| C4721610 | Carcinoma, Ovarian Epithelial | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
| C0086543 | Cataract | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
| C0025517 | Metabolic Diseases | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
| C0020615 | Hypoglycemia | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
| C0341858 | Endometriosis of uterus | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
| C0751161 | UDPglucose 4-epimerase deficiency disease | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
| C0919267 | ovarian neoplasm | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
| C0002878 | Anemia, Hemolytic | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
| C0025521 | Inborn Errors of Metabolism | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
