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 1 - 25 of 62743 in total
Disease ID Disease Name Gene Symbol Gene ID Gene Name ▼ UniProt ID
C0948008 Ischemic stroke XYLB 9942 xylulokinase O75191
C0003872 Arthritis, Psoriatic XYLT2 64132 xylosyltransferase 2 Q9H1B5
C0019156 Hepatic Veno-Occlusive Disease XYLT2 64132 xylosyltransferase 2 Q9H1B5
C0028738 Nystagmus XYLT2 64132 xylosyltransferase 2 Q9H1B5
C0432242 Desbuquois syndrome XYLT2 64132 xylosyltransferase 2 Q9H1B5
C3665347 Visual Impairment XYLT2 64132 xylosyltransferase 2 Q9H1B5
C1857276 Trichohepatoenteric Syndrome XYLT2 64132 xylosyltransferase 2 Q9H1B5
C0022680 Polycystic Kidney Diseases XYLT2 64132 xylosyltransferase 2 Q9H1B5
C0699885 Carcinoma of bladder XYLT2 64132 xylosyltransferase 2 Q9H1B5
C0023643 Lichen disease XYLT2 64132 xylosyltransferase 2 Q9H1B5
C0018817 Atrial Septal Defects XYLT2 64132 xylosyltransferase 2 Q9H1B5
C0028754 Obesity XYLT2 64132 xylosyltransferase 2 Q9H1B5
C1306459 Primary malignant neoplasm XYLT2 64132 xylosyltransferase 2 Q9H1B5
C0011644 Scleroderma XYLT2 64132 xylosyltransferase 2 Q9H1B5
C0002982 Angioid Streaks XYLT2 64132 xylosyltransferase 2 Q9H1B5
C0029456 Osteoporosis XYLT2 64132 xylosyltransferase 2 Q9H1B5
C0023895 Liver diseases XYLT2 64132 xylosyltransferase 2 Q9H1B5
C0028326 Noonan Syndrome XYLT2 64132 xylosyltransferase 2 Q9H1B5
C0035305 Retinal Detachment XYLT2 64132 xylosyltransferase 2 Q9H1B5
C0026010 Microphthalmos XYLT2 64132 xylosyltransferase 2 Q9H1B5
C0019163 Hepatitis B XYLT2 64132 xylosyltransferase 2 Q9H1B5
C0011854 Diabetes Mellitus, Insulin-Dependent XYLT2 64132 xylosyltransferase 2 Q9H1B5
C0033847 Pseudoxanthoma Elasticum XYLT2 64132 xylosyltransferase 2 Q9H1B5
C0007196 Restrictive cardiomyopathy XYLT2 64132 xylosyltransferase 2 Q9H1B5
C0040034 Thrombocytopenia XYLT2 64132 xylosyltransferase 2 Q9H1B5

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Last updated: August 19, 2024