SLC45A2, solute carrier family 45 member 2, 51151

N. diseases: 75; N. variants: 46
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 OCA4 is caused by mutations in SLC45A2 showing a heterogeneous phenotype ranging from white hair, blue irides and nystagmus to brown/black hair, brown irides and no nystagmus. 24096233 2014
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.110 Biomarker disease HPO