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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 |
|---|---|---|---|---|---|
| C0431663 | Bilateral Cryptorchidism | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C0005745 | Blepharoptosis | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C0158761 | Radioulnar Synostosis | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C1306503 | Congenital exomphalos | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C0796032 | Malpuech facial clefting syndrome | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C0524851 | Neurodegenerative Disorders | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C0042769 | Virus Diseases | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C4303860 | Craniofacial ulnar renal syndrome | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C0549567 | Pigmentation Disorders | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C1384666 | hearing impairment | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C0010417 | Cryptorchidism | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C0796059 | Oculopalatoskeletal syndrome | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C3714756 | Intellectual Disability | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C0080174 | Spina Bifida Occulta | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C0243026 | Sepsis | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C0019693 | HIV Infections | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C3714636 | Pneumonitis | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C1836230 | HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C0010278 | Craniosynostosis | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C2677590 | Congenital Disorder Of Glycosylation, Type In | MOGS | 7841 | mannosyl-oligosaccharide glucosidase | Q13724 |
| C0018784 | Sensorineural Hearing Loss (disorder) | MOGS | 7841 | mannosyl-oligosaccharide glucosidase | Q13724 |
| C0036572 | Seizures | MOGS | 7841 | mannosyl-oligosaccharide glucosidase | Q13724 |
| C0282577 | Congenital Disorders of Glycosylation | MOGS | 7841 | mannosyl-oligosaccharide glucosidase | Q13724 |
| C0005744 | Blepharophimosis | MOGS | 7841 | mannosyl-oligosaccharide glucosidase | Q13724 |
| C1367554 | Adamantinoma | MOGS | 7841 | mannosyl-oligosaccharide glucosidase | Q13724 |
