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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 ▲ |
|---|---|---|---|---|---|
| C0600139 | Prostate carcinoma | CEMIP | 57214 | cell migration inducing hyaluronidase 1 | Q8WUJ3 |
| C0032285 | Pneumonia | CEMIP | 57214 | cell migration inducing hyaluronidase 1 | Q8WUJ3 |
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | CEMIP | 57214 | cell migration inducing hyaluronidase 1 | Q8WUJ3 |
| C0699790 | Colon Carcinoma | CEMIP | 57214 | cell migration inducing hyaluronidase 1 | Q8WUJ3 |
| C1140680 | Malignant neoplasm of ovary | CEMIP | 57214 | cell migration inducing hyaluronidase 1 | Q8WUJ3 |
| C4721610 | Carcinoma, Ovarian Epithelial | CEMIP | 57214 | cell migration inducing hyaluronidase 1 | Q8WUJ3 |
| C0919267 | ovarian neoplasm | CEMIP | 57214 | cell migration inducing hyaluronidase 1 | Q8WUJ3 |
| C3714636 | Pneumonitis | CEMIP | 57214 | cell migration inducing hyaluronidase 1 | Q8WUJ3 |
| 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 |
| C2749283 | Gm2-Gangliosidosis, Variant B1 | HEXD | 284004 | hexosaminidase D | Q8WVB3 |
| 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 |
| C0037773 | Spastic Paraplegia, Hereditary | FAR1 | 84188 | fatty acyl-CoA reductase 1 | Q8WVX9 |
| C0025958 | Microcephaly | FAR1 | 84188 | fatty acyl-CoA reductase 1 | Q8WVX9 |
| C0282529 | Chondrodysplasia Punctata, Rhizomelic | FAR1 | 84188 | fatty acyl-CoA reductase 1 | Q8WVX9 |
| C0013595 | Eczema | FAR1 | 84188 | fatty acyl-CoA reductase 1 | Q8WVX9 |
| C0024623 | Malignant neoplasm of stomach | TMED6 | 146456 | transmembrane p24 trafficking protein 6 | Q8WW62 |
| C0206657 | Alveolar Soft Part Sarcoma | TMED6 | 146456 | transmembrane p24 trafficking protein 6 | Q8WW62 |
