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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 |
|---|---|---|---|---|---|
| C0008924 | Cleft upper lip | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0008924 | Cleft upper lip | COLEC10 | 10584 | collectin subfamily member 10 | Q9Y6Z7 |
| C0008924 | Cleft upper lip | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0008924 | Cleft upper lip | GPC3 | 2719 | glypican 3 | P51654 |
| C0008924 | Cleft upper lip | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C0008924 | Cleft upper lip | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0008924 | Cleft upper lip | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0008924 | Cleft upper lip | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C0008924 | Cleft upper lip | MTMR3 | 8897 | myotubularin related protein 3 | Q13615 |
| C0008909 | Claustrophobia | CAT | 847 | catalase | P04040 |
| C0008780 | Ciliary Motility Disorders | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0008728 | Eosinophilic granulomatosis with polyangiitis | CMAS | 55907 | cytidine monophosphate N-acetylneuraminic acid synthetase | Q8NFW8 |
| C0008728 | Eosinophilic granulomatosis with polyangiitis | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C0008728 | Eosinophilic granulomatosis with polyangiitis | TNFRSF10C | 8794 | TNF receptor superfamily member 10c | O14798 |
| C0008707 | Chronic osteomyelitis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0008707 | Chronic osteomyelitis | NANS | 54187 | N-acetylneuraminate synthase | Q9NR45 |
| C0008707 | Chronic osteomyelitis | ACYP2 | 98 | acylphosphatase 2 | P14621 |
| C0008677 | Bronchitis, Chronic | CHID1 | 66005 | chitinase domain containing 1 | Q9BWS9 |
| C0008677 | Bronchitis, Chronic | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0008677 | Bronchitis, Chronic | SFTPD | 6441 | surfactant protein D | P35247 |
| C0008677 | Bronchitis, Chronic | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0008582 | Chromoblastomycosis | CLEC7A | 64581 | C-type lectin domain containing 7A | Q9BXN2 |
| C0008533 | Hemophilia B | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0008533 | Hemophilia B | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0008533 | Hemophilia B | DCXR | 51181 | dicarbonyl and L-xylulose reductase | Q7Z4W1 |
