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
Displaying entries 52726 - 52750 of 62743 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Gene Name UniProt ID
C0017601 Glaucoma RXYLT1 10329 ribitol xylosyltransferase 1 Q9Y2B1
C0266551 Congenital coloboma of iris RXYLT1 10329 ribitol xylosyltransferase 1 Q9Y2B1
C0266544 Microcornea RXYLT1 10329 ribitol xylosyltransferase 1 Q9Y2B1
C0410174 Fukuyama Type Congenital Muscular Dystrophy RXYLT1 10329 ribitol xylosyltransferase 1 Q9Y2B1
C0018051 Gonadal Dysgenesis RXYLT1 10329 ribitol xylosyltransferase 1 Q9Y2B1
C0026010 Microphthalmos RXYLT1 10329 ribitol xylosyltransferase 1 Q9Y2B1
C0282577 Congenital Disorders of Glycosylation RXYLT1 10329 ribitol xylosyltransferase 1 Q9Y2B1
C0010038 Corneal Opacity RXYLT1 10329 ribitol xylosyltransferase 1 Q9Y2B1
C0036572 Seizures RXYLT1 10329 ribitol xylosyltransferase 1 Q9Y2B1
C0026850 Muscular Dystrophy RXYLT1 10329 ribitol xylosyltransferase 1 Q9Y2B1
C0010417 Cryptorchidism RXYLT1 10329 ribitol xylosyltransferase 1 Q9Y2B1
C1836373 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K RXYLT1 10329 ribitol xylosyltransferase 1 Q9Y2B1
C0854723 Retinal Dystrophies RXYLT1 10329 ribitol xylosyltransferase 1 Q9Y2B1
C0086543 Cataract RXYLT1 10329 ribitol xylosyltransferase 1 Q9Y2B1
C0035305 Retinal Detachment RXYLT1 10329 ribitol xylosyltransferase 1 Q9Y2B1
C4284790 Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 RXYLT1 10329 ribitol xylosyltransferase 1 Q9Y2B1
C0025958 Microcephaly RXYLT1 10329 ribitol xylosyltransferase 1 Q9Y2B1
C0020255 Hydrocephalus RXYLT1 10329 ribitol xylosyltransferase 1 Q9Y2B1
C0022658 Kidney Diseases SACM1L 22908 SAC1 like phosphatidylinositide phosphatase Q9NTJ5
C0008533 Hemophilia B SACM1L 22908 SAC1 like phosphatidylinositide phosphatase Q9NTJ5
C1264041 von Willebrand Disease, Type 3 SACM1L 22908 SAC1 like phosphatidylinositide phosphatase Q9NTJ5
C3161650 Primary immunoglobulin A nephropathy (disorder) SACM1L 22908 SAC1 like phosphatidylinositide phosphatase Q9NTJ5
C0023449 Acute lymphocytic leukemia SACM1L 22908 SAC1 like phosphatidylinositide phosphatase Q9NTJ5
C0038454 Cerebrovascular accident SACM1L 22908 SAC1 like phosphatidylinositide phosphatase Q9NTJ5
C0023493 Adult T-Cell Lymphoma/Leukemia SACM1L 22908 SAC1 like phosphatidylinositide phosphatase Q9NTJ5

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