NKX6-2, NK6 homeobox 2, 84504

N. diseases: 47; N. variants: 8
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 NKX6-2 mutations should be considered in patients with autosomal recessive, very early onset of nystagmus, cerebellar ataxia with hypotonia that rapidly progresses to spasticity, particularly when associated with neuroimaging signs of hypomyelination. 31509304 2020
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.110 Biomarker disease HPO