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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 |
|---|---|---|---|---|---|
| C0282102 | Chondrodysplasia punctata, X-linked dominant type | STS | 412 | steroid sulfatase | P08842 |
| C0282102 | Chondrodysplasia punctata, X-linked dominant type | GNPAT | 8443 | glyceronephosphate O-acyltransferase | O15228 |
| C0282102 | Chondrodysplasia punctata, X-linked dominant type | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0282102 | Chondrodysplasia punctata, X-linked dominant type | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0282102 | Chondrodysplasia punctata, X-linked dominant type | FDFT1 | 2222 | farnesyl-diphosphate farnesyltransferase 1 | P37268 |
| C0282102 | Chondrodysplasia punctata, X-linked dominant type | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0282529 | Chondrodysplasia Punctata, Rhizomelic | GNPAT | 8443 | glyceronephosphate O-acyltransferase | O15228 |
| C0282529 | Chondrodysplasia Punctata, Rhizomelic | FAR1 | 84188 | fatty acyl-CoA reductase 1 | Q8WVX9 |
| C0282529 | Chondrodysplasia Punctata, Rhizomelic | AGPS | 8540 | alkylglycerone phosphate synthase | O00116 |
| C0008445 | Chondrodysplasia Punctata | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0008445 | Chondrodysplasia Punctata | ARSH | 347527 | arylsulfatase family member H | Q5FYA8 |
| C0008445 | Chondrodysplasia Punctata | STS | 412 | steroid sulfatase | P08842 |
| C0008445 | Chondrodysplasia Punctata | GNPAT | 8443 | glyceronephosphate O-acyltransferase | O15228 |
| C0008445 | Chondrodysplasia Punctata | AGPS | 8540 | alkylglycerone phosphate synthase | O00116 |
| C0008445 | Chondrodysplasia Punctata | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0008445 | Chondrodysplasia Punctata | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0008445 | Chondrodysplasia Punctata | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0008441 | Chondroblastoma | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0008441 | Chondroblastoma | ACAN | 176 | aggrecan | P16112 |
| C0008441 | Chondroblastoma | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0008441 | Chondroblastoma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0279603 | Chondroblastic osteosarcoma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0152230 | Cholinergic urticaria | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0152230 | Cholinergic urticaria | CLEC10A | 10462 | C-type lectin domain containing 10A | Q8IUN9 |
| C0152230 | Cholinergic urticaria | MGLL | 11343 | monoglyceride lipase | Q99685 |
