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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 |
|---|---|---|---|---|---|
| C1301937 | Talipes | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C1301937 | Talipes | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C1301937 | Talipes | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C1301937 | Talipes | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1301355 | Myelodysplastic-Myeloproliferative Diseases | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C1301355 | Myelodysplastic-Myeloproliferative Diseases | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C1300257 | Thanatophoric dysplasia, type 2 | LMAN1 | 3998 | lectin, mannose binding 1 | P49257 |
| C1299240 | Carcinoma of supraglottis | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1299237 | Endocervical Carcinoma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1298681 | Oxalosis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C1298681 | Oxalosis | AGXT | 189 | alanine--glyoxylate and serine--pyruvate aminotransferase | P21549 |
| C1292779 | Myelodysplastic Syndrome with Isolated del(5q) | ANXA5 | 308 | annexin A5 | P08758 |
| C1292779 | Myelodysplastic Syndrome with Isolated del(5q) | HMMR | 3161 | hyaluronan mediated motility receptor | O75330 |
| C1292779 | Myelodysplastic Syndrome with Isolated del(5q) | CD14 | 929 | CD14 molecule | P08571 |
| C1292779 | Myelodysplastic Syndrome with Isolated del(5q) | CD74 | 972 | CD74 molecule | P04233 |
| C1292778 | Chronic myeloproliferative disorder | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C1292778 | Chronic myeloproliferative disorder | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C1292778 | Chronic myeloproliferative disorder | POFUT1 | 23509 | protein O-fucosyltransferase 1 | Q9H488 |
| C1292778 | Chronic myeloproliferative disorder | PIGA | 5277 | phosphatidylinositol glycan anchor biosynthesis class A | P37287 |
| C1292778 | Chronic myeloproliferative disorder | IDS | 3423 | iduronate 2-sulfatase | P22304 |
| C1292778 | Chronic myeloproliferative disorder | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C1292778 | Chronic myeloproliferative disorder | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C1292778 | Chronic myeloproliferative disorder | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C1292778 | Chronic myeloproliferative disorder | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C1292778 | Chronic myeloproliferative disorder | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
