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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 |
|---|---|---|---|---|---|
| C1527358 | Phototoxicity | DGAT1 | 8694 | diacylglycerol O-acyltransferase 1 | O75907 |
| C1527358 | Phototoxicity | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0349506 | Photosensitivity of skin | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0349506 | Photosensitivity of skin | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0349506 | Photosensitivity of skin | FDPS | 2224 | farnesyl diphosphate synthase | P14324 |
| C0349506 | Photosensitivity of skin | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C0031762 | Photosensitivity Disorders | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0085636 | Photophobia | CHST6 | 4166 | carbohydrate sulfotransferase 6 | Q9GZX3 |
| C0085636 | Photophobia | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0085636 | Photophobia | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0085636 | Photophobia | HK1 | 3098 | hexokinase 1 | P19367 |
| C0085636 | Photophobia | IDH3B | 3420 | isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | O43837 |
| C0085636 | Photophobia | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0085636 | Photophobia | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0085636 | Photophobia | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
| C0085636 | Photophobia | PIKFYVE | 200576 | phosphoinositide kinase, FYVE-type zinc finger containing | Q9Y2I7 |
| C0085636 | Photophobia | SPHK2 | 56848 | sphingosine kinase 2 | Q9NRA0 |
| C0085636 | Photophobia | ELOVL1 | 64834 | ELOVL fatty acid elongase 1 | Q9BW60 |
| C0085636 | Photophobia | CACNA2D4 | 93589 | calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Q7Z3S7 |
| C0085636 | Photophobia | IDH3A | 3419 | isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | P50213 |
| C0085636 | Photophobia | ALDH3A2 | 224 | aldehyde dehydrogenase 3 family member A2 | P51648 |
| C0085636 | Photophobia | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C0085636 | Photophobia | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0085636 | Photophobia | PLCD1 | 5333 | phospholipase C delta 1 | P51178 |
| C0085636 | Photophobia | CA4 | 762 | carbonic anhydrase 4 | P22748 |
