LAMB2, laminin subunit beta 2, 3913

N. diseases: 116; N. variants: 17
Disease: Nystagmus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.110 GeneticVariation disease BEFREE A 3.25-year-old girl presenting with childhood-onset heavy proteinuria, bilateral myosis and nystagmus was detected on mutations of LAMB2 gene by PCR direct sequencing. 19861315 2010
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.110 Biomarker disease HPO