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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 |
|---|---|---|---|---|---|
| C0268398 | Familial lichen amyloidosis | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0268398 | Familial lichen amyloidosis | INPP5D | 3635 | inositol polyphosphate-5-phosphatase D | Q92835 |
| C0268398 | Familial lichen amyloidosis | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0268398 | Familial lichen amyloidosis | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0268398 | Familial lichen amyloidosis | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
| C0268398 | Familial lichen amyloidosis | HSD3B1 | 3283 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 | P14060 |
| C0268398 | Familial lichen amyloidosis | UGT2B28 | 54490 | UDP glucuronosyltransferase family 2 member B28 | Q9BY64 |
| C0268398 | Familial lichen amyloidosis | CERS2 | 29956 | ceramide synthase 2 | Q96G23 |
| C0268398 | Familial lichen amyloidosis | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C0268398 | Familial lichen amyloidosis | AKR1C2 | 1646 | aldo-keto reductase family 1 member C2 | P52895 |
| C0268398 | Familial lichen amyloidosis | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0268398 | Familial lichen amyloidosis | ENO2 | 2026 | enolase 2 | P09104 |
| C0268398 | Familial lichen amyloidosis | PRNP | 5621 | prion protein | P04156 |
| C0268398 | Familial lichen amyloidosis | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C0268398 | Familial lichen amyloidosis | XPNPEP2 | 7512 | X-prolyl aminopeptidase 2 | O43895 |
| C0268398 | Familial lichen amyloidosis | UGT2B17 | 7367 | UDP glucuronosyltransferase family 2 member B17 | O75795 |
| C0268398 | Familial lichen amyloidosis | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0268398 | Familial lichen amyloidosis | AMACR | 23600 | alpha-methylacyl-CoA racemase | Q9UHK6 |
| C0268398 | Familial lichen amyloidosis | PRNP | 5621 | prion protein | F7VJQ1 |
| C0268398 | Familial lichen amyloidosis | SRD5A1 | 6715 | steroid 5 alpha-reductase 1 | P18405 |
| C0393929 | Familial infantile myasthenia | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C1862596 | Familial hypobetalipoproteinemia | PLA2G7 | 7941 | phospholipase A2 group VII | Q13093 |
| C1862596 | Familial hypobetalipoproteinemia | EFNA5 | 1946 | ephrin A5 | P52803 |
| C0342881 | Familial hypercholesterolemia - homozygous | LPL | 4023 | lipoprotein lipase | P06858 |
| C0342881 | Familial hypercholesterolemia - homozygous | MPI | 4351 | mannose phosphate isomerase | P34949 |
