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 54226 - 54250 of 62743 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Gene Name UniProt ID
C0026850 Muscular Dystrophy FKRP 79147 fukutin related protein Q9H9S5
C0010964 Dandy-Walker Syndrome FKRP 79147 fukutin related protein Q9H9S5
C0027868 Neuromuscular Diseases FKRP 79147 fukutin related protein Q9H9S5
C0751951 Central Core Myopathy (disorder) FKRP 79147 fukutin related protein Q9H9S5
C3150416 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 FKRP 79147 fukutin related protein Q9H9S5
C0410174 Fukuyama Type Congenital Muscular Dystrophy FKRP 79147 fukutin related protein Q9H9S5
C0027121 Myositis FKRP 79147 fukutin related protein Q9H9S5
C3714756 Intellectual Disability FKRP 79147 fukutin related protein Q9H9S5
C0020255 Hydrocephalus FKRP 79147 fukutin related protein Q9H9S5
C3150415 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 FKRP 79147 fukutin related protein Q9H9S5
C1852502 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT FKRP 79147 fukutin related protein Q9H9S5
C0266551 Congenital coloboma of iris FKRP 79147 fukutin related protein Q9H9S5
C0917713 Becker Muscular Dystrophy FKRP 79147 fukutin related protein Q9H9S5
C3150413 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 FKRP 79147 fukutin related protein Q9H9S5
C0575158 Kyphoscoliosis deformity of spine FKRP 79147 fukutin related protein Q9H9S5
C0026010 Microphthalmos FKRP 79147 fukutin related protein Q9H9S5
C0035410 Rhabdomyolysis FKRP 79147 fukutin related protein Q9H9S5
C0520947 Clumsiness - motor delay FKRP 79147 fukutin related protein Q9H9S5
C4284790 Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 FKRP 79147 fukutin related protein Q9H9S5
C0017601 Glaucoma FKRP 79147 fukutin related protein Q9H9S5
C0270960 Congenital myopathy (disorder) FKRP 79147 fukutin related protein Q9H9S5
C0035305 Retinal Detachment FKRP 79147 fukutin related protein Q9H9S5
C0018802 Congestive heart failure FKRP 79147 fukutin related protein Q9H9S5
C0026848 Myopathy FKRP 79147 fukutin related protein Q9H9S5
C3150412 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 FKRP 79147 fukutin related protein Q9H9S5

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024