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 61776 - 61800 of 62743 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Gene Name UniProt ID
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
C1333762 Gastric Cardia Adenocarcinoma AKR1A1 10327 aldo-keto reductase family 1 member A1 P14550
C0009404 Colorectal Neoplasms AKR1A1 10327 aldo-keto reductase family 1 member A1 P14550
C0011849 Diabetes Mellitus AKR1A1 10327 aldo-keto reductase family 1 member A1 P14550
C0023896 Alcoholic Liver Diseases AKR1A1 10327 aldo-keto reductase family 1 member A1 P14550
C0011854 Diabetes Mellitus, Insulin-Dependent AKR1A1 10327 aldo-keto reductase family 1 member A1 P14550
C0007107 Malignant neoplasm of larynx AKR1A1 10327 aldo-keto reductase family 1 member A1 P14550
C0001339 Acute pancreatitis AKR1A1 10327 aldo-keto reductase family 1 member A1 P14550
C0001973 Alcoholic Intoxication, Chronic AKR1A1 10327 aldo-keto reductase family 1 member A1 P14550
C3887461 Head and Neck Carcinoma AKR1A1 10327 aldo-keto reductase family 1 member A1 P14550

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