rs119489105, MERTK

N. diseases: 2
Disease: Leber Congenital Amaurosis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Leber Congenital Amaurosis
CUI: C0339527
Disease: Leber Congenital Amaurosis
0.010 GeneticVariation BEFREE One patient with a known MERTK mutation (p.R651X) was identified using the Asper Ophthalmics Leber congenital amaurosis chip. 20300561 2010