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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 |
|---|---|---|---|---|---|
| C0022336 | Creutzfeldt-Jakob disease | MDH1 | 4190 | malate dehydrogenase 1 | P40925 |
| C0022336 | Creutzfeldt-Jakob disease | AMT | 275 | aminomethyltransferase | P48728 |
| C0022336 | Creutzfeldt-Jakob disease | PRNP | 5621 | prion protein | F7VJQ1 |
| C0022336 | Creutzfeldt-Jakob disease | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0022336 | Creutzfeldt-Jakob disease | MTMR7 | 9108 | myotubularin related protein 7 | Q9Y216 |
| C0022333 | Jacksonian Seizure | PIGM | 93183 | phosphatidylinositol glycan anchor biosynthesis class M | Q9H3S5 |
| C0022333 | Jacksonian Seizure | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0022333 | Jacksonian Seizure | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0022333 | Jacksonian Seizure | ACAT1 | 38 | acetyl-CoA acetyltransferase 1 | P24752 |
| C0022333 | Jacksonian Seizure | IMPA1 | 3612 | inositol monophosphatase 1 | P29218 |
| C0022333 | Jacksonian Seizure | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0022333 | Jacksonian Seizure | CAT | 847 | catalase | P04040 |
| C0022333 | Jacksonian Seizure | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0022333 | Jacksonian Seizure | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0022333 | Jacksonian Seizure | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0022333 | Jacksonian Seizure | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C0022333 | Jacksonian Seizure | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0022283 | Incontinentia Pigmenti Achromians | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C0022283 | Incontinentia Pigmenti Achromians | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0022283 | Incontinentia Pigmenti Achromians | IL1R1 | 3554 | interleukin 1 receptor type 1 | P14778 |
| C0022283 | Incontinentia Pigmenti Achromians | MPG | 4350 | N-methylpurine DNA glycosylase | P29372 |
| C0022283 | Incontinentia Pigmenti Achromians | PARP9 | 83666 | poly(ADP-ribose) polymerase family member 9 | Q8IXQ6 |
| C0022283 | Incontinentia Pigmenti Achromians | CD38 | 952 | CD38 molecule | P28907 |
| C0022283 | Incontinentia Pigmenti Achromians | CEL | 1056 | carboxyl ester lipase | P19835 |
| C0022283 | Incontinentia Pigmenti Achromians | SFTPD | 6441 | surfactant protein D | P35247 |
