MERTK, MER proto-oncogene, tyrosine kinase, 10461

N. diseases: 154; N. variants: 31
Disease: Autosomal recessive retinitis pigmentosa ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		0.030 GeneticVariation disease BEFREE Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosa. 22180149 2012
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		0.030 GeneticVariation disease BEFREE Mutations in the MERTK gene are relatively rare in Japanese patients with arRP. 16710167 2006
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		0.030 GeneticVariation disease BEFREE Mutations in the MERTK gene are responsible for retinal degeneration in the Royal College of Surgeons (RCS) rat and are a cause of human autosomal recessive retinitis pigmentosa (RP). 15111602 2004