Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a11

Log in to bookmark this disease

Bookmark This Disease

Subtype of: Muscular dystrophy · Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
Download as CSV Download as PDF
Pathways column key: KEGG Reactome
Disease terms Disease ID Gene Symbol Classification References Source Pathways
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
MONDO_0014071
B3GALNT2 Causal
23453667 29791932
ClinGen, Open Targets
All2 Causal1 Unknown1
Related Diseases Diseases that share the most curated genes with Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a11.
5 View disease cluster →
Congenital muscular dystrophies 1 shared geneB3GALNT2 Related via 1 shared gene including B3GALNT2. Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a12 1 shared genePOMK Related via 1 shared gene including POMK. Kenny-caffey syndrome 1 shared geneB3GALNT2 Related via 1 shared gene including B3GALNT2. Muscular dystrophy-dystroglycanopathy 1 shared geneB3GALNT2 Related via 1 shared gene including B3GALNT2. Muscle eye brain disease 2 shared genesB3GALNT2, POMK Related via 2 shared genes including B3GALNT2, POMK.