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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 |
|---|---|---|---|---|---|
| C0007971 | Cheilitis | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0008029 | Cherubism | TNKS | 8658 | tankyrase | O95271 |
| C0008029 | Cherubism | PLCG2 | 5336 | phospholipase C gamma 2 | P16885 |
| C0008043 | Chiari-Frommel Syndrome | HSD3B1 | 3283 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 | P14060 |
| C0008043 | Chiari-Frommel Syndrome | HSD3B2 | 3284 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 | P26439 |
| C0008043 | Chiari-Frommel Syndrome | SRD5A1 | 6715 | steroid 5 alpha-reductase 1 | P18405 |
| C0008043 | Chiari-Frommel Syndrome | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| C0008055 | Chikungunya Fever | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0008055 | Chikungunya Fever | MPG | 4350 | N-methylpurine DNA glycosylase | P29372 |
| C0008055 | Chikungunya Fever | SIGLEC9 | 27180 | sialic acid binding Ig like lectin 9 | Q9Y336 |
| C0008055 | Chikungunya Fever | CD209 | 30835 | CD209 molecule | Q9NNX6 |
| C0008055 | Chikungunya Fever | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C0008055 | Chikungunya Fever | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0008055 | Chikungunya Fever | SPHK2 | 56848 | sphingosine kinase 2 | Q9NRA0 |
| C0008055 | Chikungunya Fever | CD74 | 972 | CD74 molecule | P04233 |
| C0008055 | Chikungunya Fever | AKR1C4 | 1109 | aldo-keto reductase family 1 member C4 | P17516 |
| C0008055 | Chikungunya Fever | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
| C0008055 | Chikungunya Fever | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0008055 | Chikungunya Fever | FASN | 2194 | fatty acid synthase | P49327 |
| C0008055 | Chikungunya Fever | KLRD1 | 3824 | killer cell lectin like receptor D1 | Q13241 |
| C0008055 | Chikungunya Fever | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0008055 | Chikungunya Fever | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0008055 | Chikungunya Fever | GOLPH3 | 64083 | golgi phosphoprotein 3 | Q9H4A6 |
| C0008055 | Chikungunya Fever | BST2 | 684 | bone marrow stromal cell antigen 2 | Q10589 |
| C0008272 | Asiderotic anemia | GOLPH3 | 64083 | golgi phosphoprotein 3 | Q9H4A6 |
