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 |
---|---|---|---|---|---|
C0025958 | Microcephaly | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
C1531647 | Cerebral ventriculomegaly | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
C0035412 | Rhabdomyosarcoma | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
C0035305 | Retinal Detachment | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
C0270962 | Multi-core congenital myopathy | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
C0015469 | Facial paralysis | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
C0338502 | Hypoplasia of the optic nerve | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
C0038379 | Strabismus | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
C0010038 | Corneal Opacity | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
C1879312 | Agyria | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
C0456909 | Blindness | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
C0017601 | Glaucoma | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
C0020255 | Hydrocephalus | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
C0521694 | Atrophic retina | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
C0520947 | Clumsiness - motor delay | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
C0023470 | Myeloid Leukemia | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
C0546264 | Congenital Fiber Type Disproportion | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
C2875316 | Myotubular (centronuclear) myopathy | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
C0036857 | Severe intellectual disability | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
C0027092 | Myopia | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
C3150412 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
C0025286 | Meningioma | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
C0036572 | Seizures | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
C4015184 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12 | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024