GPR143, G protein-coupled receptor 143, 4935

N. diseases: 6; N. variants: 29
Disease: Nystagmus, CTCAE 3.0 ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		0.400 Biomarker phenotype GENOMICS_ENGLAND These results suggest that this novel mutation is associated with the congenital nystagmus observed in this Chinese family and further support that GPR143 mutations are the underlying pathogenesis of the molecular mechanism for congenital nystagmus. 19390656 2009