Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I
0.800 GeneticVariation disease UNIPROT The biochemical analysis of OA1 mutations performed in this study provides important insights into the structure-function relationships of the OA1 protein and implies protein misfolding as a major pathogenic mechanism in OA1. 11115845 2000
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I
0.800 GeneticVariation disease UNIPROT The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells. 18697795 2008
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I
0.800 GeneticVariation disease BEFREE X-linked ocular albinism type 1 (OA1) is caused by mutations in OA1 gene, which encodes a membrane glycoprotein localised to melanosomes. 12515581 2003
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I
0.800 GeneticVariation disease UNIPROT New mutations identified in the ocular albinism type 1 gene. 17822861 2007
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I
0.800 GeneticVariation disease BEFREE We identified a novel causative mutation of GPR143 in a five-generation Chinese family with XLOA. 21423867 2011
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I
0.800 GeneticVariation disease UNIPROT The melanosomal/lysosomal protein OA1 has properties of a G protein-coupled receptor. 16524428 2006
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I
0.800 GeneticVariation disease BEFREE We screened the OA1 gene for mutations in three unrelated Canadian and French families and in two isolated patients with OA1. 12868035 2003
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I
0.800 GeneticVariation disease BEFREE The findings of the present study expanded the gene mutation spectrum of GPR143 and investigated the clinical phenotype of patients with OA1 in the Chinese population. 28339057 2017
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I
0.800 GeneticVariation disease BEFREE These observations and our overall refinement of point mutation distribution within the OA1 gene have important implications for the molecular diagnosis of OA1 and for the establishment of any mutation detection program for this disorder. 11214907 2001
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I
0.800 GeneticVariation disease UNIPROT An unconventional dileucine-based motif and a novel cytosolic motif are required for the lysosomal and melanosomal targeting of OA1. 16621890 2006
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I
0.800 GeneticVariation disease UNIPROT These observations and our overall refinement of point mutation distribution within the OA1 gene have important implications for the molecular diagnosis of OA1 and for the establishment of any mutation detection program for this disorder. 11214907 2001
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I
0.800 GeneticVariation disease UNIPROT Eight previously unidentified mutations found in the OA1 ocular albinism gene. 16646960 2006
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I
0.800 GeneticVariation disease BEFREE Mutations in the OA1 gene on the short arm of the X chromosome are known to cause X-linked ocular albinism (x1OA) in males. 11405065 2001
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I
0.800 GeneticVariation disease BEFREE A novel splicing site mutation of the GPR143 gene in a Chinese X-linked ocular albinism pedigree. 24301936 2013
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I
0.800 GeneticVariation disease UNIPROT All nine exons of the OA1 gene, as well as the 5' and 3' untranslated regions, were scanned for point mutations in PCR-amplified DNA from 60 OA1 patients. 8634705 1995
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I
0.800 GeneticVariation disease BEFREE In this study, we screened the human Gαi3 gene, GNAI3, in DNA samples from 26 patients who had all clinical characteristics of OA but in whom a specific mutation in the OA1 gene had not been found, and in 6 normal control individuals. 27607449 2016
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I
0.800 GeneticVariation disease UNIPROT OA1 mutations and deletions in X-linked ocular albinism. 9529334 1998
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I
0.800 GeneticVariation disease BEFREE Mutation analysis of the OA1 gene demonstrated seven presumed pathogenic mutations in the nine families with XLOA: five single nucleotide substitutions predicting a change of conserved amino acids (G35D, L39R, D78V, W133R and E233K) when compared with the mouse OA1 homologue, one deletion leading to the skipping of exon 2, and one single nucleotide substitution expected to affect the 5' splice site of intron 2 were found. 9887374 1999
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I
0.800 GeneticVariation disease BEFREE To the best of our knowledge, we describe the first Spanish family known to present with XLOA due to mutations in the OA1 gene. 20649618 2010
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I
0.800 GeneticVariation disease BEFREE Our study performed mutation analysis of the G protein-coupled receptor 143 gene (GPR143) and assessed the clinical characteristics of OA1 in three Chinese families. 28211458 2017
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I
0.800 GeneticVariation disease BEFREE These findings extend the mutational spectrum of GPR143 gene and will be useful for gene diagnosis and genetic counseling in Chinese OA1 patients. 19123159 2009
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I
0.800 GeneticVariation disease BEFREE Here, we report on a Chinese family with OA1 and partial deletion of GPR143. 19610097 2009
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I
0.800 GeneticVariation disease BEFREE These results expand the mutation spectrum of GPR143, and demonstrate the clinical characteristics of ocular albinism type I in Chinese population. 22916221 2012
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I
0.800 GeneticVariation disease BEFREE We screened 172 index patients with a clinical diagnosis of OA or OCA based on the classical findings, to evaluate the frequency of sequence variants in tyrosinase (TYR), P-gene, P-protein (OCA2), and the G-protein-coupled receptor 143 gene, OA1 (GPR143). 21541274 2011
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I
0.800 GeneticVariation disease BEFREE We present a hierarchical strategy for mutation screening for diagnostic testing for OA1 that comprises two tiers: first, multiplex PCR to detect intragenic deletions in the OA1 gene with denaturing high-performance liquid chromatography (dHPLC), and, second, heteroduplex analysis with dHPLC to scan for mutations, with subsequent sequencing of variants to confirm putative mutations in the OA1 gene. 12180081 2002