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 54376 - 54400 of 62743 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Gene Name UniProt ID
C0004352 Autistic Disorder GNPTAB 79158 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta Q3T906
C0026697 Mucolipidoses GNPTAB 79158 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta Q3T906
C0476254 Dyslexia GNPTAB 79158 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta Q3T906
C0027651 Neoplasms GNPTAB 79158 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta Q3T906
C0920296 Developmental reading disorder GNPTAB 79158 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta Q3T906
C0013336 Dwarfism GNPTAB 79158 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta Q3T906
C0344530 Congenital keratoglobus GNPTAB 79158 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta Q3T906
C0036439 Scoliosis, unspecified GNPTAB 79158 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta Q3T906
C3714756 Intellectual Disability GNPTAB 79158 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta Q3T906
C0018801 Heart failure GNPTAB 79158 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta Q3T906
C2673375 Mucolipidosis III Alpha Beta, Atypical GNPTAB 79158 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta Q3T906
C0019294 Hernia, Inguinal GNPTAB 79158 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta Q3T906
C0010278 Craniosynostosis GNPTAB 79158 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta Q3T906
C0038506 Stuttering GNPTAB 79158 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta Q3T906
C0037928 Spinal Cord Diseases GNPTAB 79158 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta Q3T906
C0025517 Metabolic Diseases GNPTAB 79158 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta Q3T906
C0018802 Congestive heart failure GNPTAB 79158 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta Q3T906
C0009081 Congenital clubfoot GNPTAB 79158 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta Q3T906
C0003504 Aortic Valve Insufficiency GNPTAB 79158 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta Q3T906
C0349788 Arrhythmogenic Right Ventricular Dysplasia GNPTAB 79158 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta Q3T906
C0002871 Anemia GNPTAB 79158 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta Q3T906
C0023234 Legg-Calve-Perthes Disease GNPTAB 79158 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta Q3T906
C0279702 Conventional (Clear Cell) Renal Cell Carcinoma GNPTAB 79158 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta Q3T906
C0019322 Umbilical hernia GNPTAB 79158 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta Q3T906
C0086795 Pfaundler-Hurler Syndrome GNPTAB 79158 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta Q3T906

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Last updated: August 19, 2024