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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 |
|---|---|---|---|---|---|
| C1956089 | Osteophyte | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C1956089 | Osteophyte | ACLY | 47 | ATP citrate lyase | P53396 |
| C1955934 | Trichothiodystrophy Syndromes | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C1955934 | Trichothiodystrophy Syndromes | CAT | 847 | catalase | P04040 |
| C1879344 | Biliary papillomatosis | HK1 | 3098 | hexokinase 1 | P19367 |
| C1879321 | Acute Myeloid Leukemia (AML-M2) | ENO2 | 2026 | enolase 2 | P09104 |
| C1879321 | Acute Myeloid Leukemia (AML-M2) | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C1879321 | Acute Myeloid Leukemia (AML-M2) | ANXA5 | 308 | annexin A5 | P08758 |
| C1879321 | Acute Myeloid Leukemia (AML-M2) | ANXA4 | 307 | annexin A4 | P09525 |
| C1879321 | Acute Myeloid Leukemia (AML-M2) | AGRN | 375790 | agrin | O00468 |
| C1879321 | Acute Myeloid Leukemia (AML-M2) | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C1879321 | Acute Myeloid Leukemia (AML-M2) | INPP4B | 8821 | inositol polyphosphate-4-phosphatase type II B | O15327 |
| C1879321 | Acute Myeloid Leukemia (AML-M2) | CD33 | 945 | CD33 molecule | P20138 |
| C1879321 | Acute Myeloid Leukemia (AML-M2) | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C1879321 | Acute Myeloid Leukemia (AML-M2) | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C1879312 | Agyria | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C1879312 | Agyria | FKTN | 2218 | fukutin | O75072 |
| C1879312 | Agyria | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C1879312 | Agyria | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C1879312 | Agyria | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C1879312 | Agyria | TMTC3 | 160418 | transmembrane O-mannosyltransferase targeting cadherins 3 | Q6ZXV5 |
| C1879312 | Agyria | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C1879312 | Agyria | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C1879312 | Agyria | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C1876187 | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
