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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 ▼ |
|---|---|---|---|---|---|
| C0040963 | Tricuspid Valve Stenosis | HEXD | 284004 | hexosaminidase D | Q8WVB3 |
| C0268274 | Gangliosidoses, GM2 | HEXD | 284004 | hexosaminidase D | Q8WVB3 |
| C0041341 | Tuberous Sclerosis | HEXD | 284004 | hexosaminidase D | Q8WVB3 |
| C0036161 | Sandhoff Disease | HEXD | 284004 | hexosaminidase D | Q8WVB3 |
| C0013384 | Dyskinetic syndrome | HEXD | 284004 | hexosaminidase D | Q8WVB3 |
| C1832916 | Timothy syndrome | HEXD | 284004 | hexosaminidase D | Q8WVB3 |
| C0040517 | Gilles de la Tourette syndrome | HEXD | 284004 | hexosaminidase D | Q8WVB3 |
| C0039373 | Tay-Sachs Disease | HEXD | 284004 | hexosaminidase D | Q8WVB3 |
| C0026691 | Mucocutaneous Lymph Node Syndrome | SLC35F5 | 80255 | solute carrier family 35 member F5 | Q8WV83 |
| C0027651 | Neoplasms | SLC35F5 | 80255 | solute carrier family 35 member F5 | Q8WV83 |
| C0343641 | Human papilloma virus infection | CEMIP | 57214 | cell migration inducing hyaluronidase 1 | Q8WUJ3 |
| C0006826 | Malignant Neoplasms | CEMIP | 57214 | cell migration inducing hyaluronidase 1 | Q8WUJ3 |
| C0009402 | Colorectal Carcinoma | CEMIP | 57214 | cell migration inducing hyaluronidase 1 | Q8WUJ3 |
| C0347272 | Benign neoplasm of large intestine | CEMIP | 57214 | cell migration inducing hyaluronidase 1 | Q8WUJ3 |
| C1335302 | Pancreatic Ductal Adenocarcinoma | CEMIP | 57214 | cell migration inducing hyaluronidase 1 | Q8WUJ3 |
| C0235974 | Pancreatic carcinoma | CEMIP | 57214 | cell migration inducing hyaluronidase 1 | Q8WUJ3 |
| C0699791 | Stomach Carcinoma | CEMIP | 57214 | cell migration inducing hyaluronidase 1 | Q8WUJ3 |
| C0006142 | Malignant neoplasm of breast | CEMIP | 57214 | cell migration inducing hyaluronidase 1 | Q8WUJ3 |
| C0003873 | Rheumatoid Arthritis | CEMIP | 57214 | cell migration inducing hyaluronidase 1 | Q8WUJ3 |
| C1306459 | Primary malignant neoplasm | CEMIP | 57214 | cell migration inducing hyaluronidase 1 | Q8WUJ3 |
| C0027651 | Neoplasms | CEMIP | 57214 | cell migration inducing hyaluronidase 1 | Q8WUJ3 |
| C0238463 | Papillary thyroid carcinoma | CEMIP | 57214 | cell migration inducing hyaluronidase 1 | Q8WUJ3 |
| C0026769 | Multiple Sclerosis | CEMIP | 57214 | cell migration inducing hyaluronidase 1 | Q8WUJ3 |
| C0009375 | Colonic Neoplasms | CEMIP | 57214 | cell migration inducing hyaluronidase 1 | Q8WUJ3 |
| C0023467 | Leukemia, Myelocytic, Acute | CEMIP | 57214 | cell migration inducing hyaluronidase 1 | Q8WUJ3 |
