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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 |
|---|---|---|---|---|---|
| C0949570 | Wheat Hypersensitivity | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C0949541 | Hurthle Cell Tumor | HYAL4 | 23553 | hyaluronidase 4 | Q2M3T9 |
| C0949541 | Hurthle Cell Tumor | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0949541 | Hurthle Cell Tumor | LDHA | 3939 | lactate dehydrogenase A | P00338 |
| C0949541 | Hurthle Cell Tumor | PGK1 | 5230 | phosphoglycerate kinase 1 | P00558 |
| C0949541 | Hurthle Cell Tumor | FH | 2271 | fumarate hydratase | P07954 |
| C0949541 | Hurthle Cell Tumor | HMMR | 3161 | hyaluronan mediated motility receptor | O75330 |
| C0949541 | Hurthle Cell Tumor | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C0949541 | Hurthle Cell Tumor | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C0949541 | Hurthle Cell Tumor | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0949541 | Hurthle Cell Tumor | SLC2A2 | 6514 | solute carrier family 2 member 2 | P11168 |
| C0949541 | Hurthle Cell Tumor | SLC2A4 | 6517 | solute carrier family 2 member 4 | P14672 |
| C0949541 | Hurthle Cell Tumor | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C0949541 | Hurthle Cell Tumor | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0949541 | Hurthle Cell Tumor | AMACR | 23600 | alpha-methylacyl-CoA racemase | Q9UHK6 |
| C0949541 | Hurthle Cell Tumor | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0949541 | Hurthle Cell Tumor | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0949541 | Hurthle Cell Tumor | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0949506 | Porokeratosis of Mibelli | FDPS | 2224 | farnesyl diphosphate synthase | P14324 |
| C0949272 | IIeocolitis | FUT2 | 2524 | fucosyltransferase 2 | Q10981 |
| C0949116 | Congenital hypoplastic anemia | UMPS | 7372 | uridine monophosphate synthetase | P11172 |
| C0949116 | Congenital hypoplastic anemia | LPIN2 | 9663 | lipin 2 | Q92539 |
| C0948896 | Primary hypogonadism | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0948896 | Primary hypogonadism | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0948896 | Primary hypogonadism | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
