GPR143, G protein-coupled receptor 143, 4935

N. diseases: 47; N. variants: 29
Disease: Optic nerve misrouting ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4531296
Disease: Optic nerve misrouting
Optic nerve misrouting 		0.010 GeneticVariation phenotype BEFREE One participant had GPR143-associated X-linked ocular albinism and another proband had biallelic variants in SLC38A8, a glutamine transporter gene associated with foveal hypoplasia and optic nerve misrouting without pigmentation defects. 31719542 2019