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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 |
|---|---|---|---|---|---|
| C2751492 | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED | MUTYH | 4595 | mutY DNA glycosylase | Q9UIF7 |
| C2751492 | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED | ALDH1A3 | 220 | aldehyde dehydrogenase 1 family member A3 | P47895 |
| C2751492 | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1845052 | AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1 | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C1865868 | ALZHEIMER DISEASE 5 | STS | 412 | steroid sulfatase | P08842 |
| C1865868 | ALZHEIMER DISEASE 5 | SPHK1 | 8877 | sphingosine kinase 1 | Q9NYA1 |
| C1863051 | ALZHEIMER DISEASE 2 | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C1863051 | ALZHEIMER DISEASE 2 | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C1845055 | ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C1845055 | ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C2751719 | ALCOHOL DEPENDENCE, PROTECTION AGAINST | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C0276535 | AIDS with Kaposi's sarcoma | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C0276535 | AIDS with Kaposi's sarcoma | SIGLEC1 | 6614 | sialic acid binding Ig like lectin 1 | Q9BZZ2 |
| C0001857 | AIDS related complex | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0001857 | AIDS related complex | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0001857 | AIDS related complex | PLCD3 | 113026 | phospholipase C delta 3 | Q8N3E9 |
| C0001857 | AIDS related complex | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0001857 | AIDS related complex | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C0001857 | AIDS related complex | CDH13 | 1012 | cadherin 13 | P55290 |
| C0001857 | AIDS related complex | EFNA5 | 1946 | ephrin A5 | P52803 |
| C0001857 | AIDS related complex | GPX3 | 2878 | glutathione peroxidase 3 | P22352 |
| C0001857 | AIDS related complex | LSS | 4047 | lanosterol synthase | P48449 |
| C0393591 | AICARDI-GOUTIERES SYNDROME | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C0393591 | AICARDI-GOUTIERES SYNDROME | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0393591 | AICARDI-GOUTIERES SYNDROME | CYP7A1 | 1581 | cytochrome P450 family 7 subfamily A member 1 | P22680 |
