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 BEFREE These findings confirm that mutations in the OA1 gene are associated with the majority of X-linked ocular albinism cases. 17960122 2007
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 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 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 AlteredExpression disease BEFREE The morpholino oligonucleotide (MO) was able to rescue OA1 expression and restore the OA1 protein level in the patient's melanocytes through skipping of the aberrant inclusion. 16550551 2006
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I
0.800 GeneticVariation disease BEFREE DNA from buccal swabs was obtained for use in denaturing high performance liquid chromatography (DHPLC) and chemical cleavage of mismatch (CCM) to scan several hotspots for X-linked ocular albinism (OA1) mutations. 16754205 2006
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 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 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
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I
0.800 GeneticVariation disease BEFREE A total of 25 missense, two nonsense, nine frameshift, and five splicing mutations have been reported in the OA1 gene associated with OA1. 11793467 2002
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 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 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 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 Biomarker disease BEFREE 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 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 UNIPROT X-linked ocular albinism: prevalence and mutations--a national study. 9887374 1999
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 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 GermlineCausalMutation disease ORPHANET
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I
0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I
0.800 CausalMutation disease CLINVAR
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I
0.800 Biomarker disease CTD_human
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I
0.800 GeneticVariation disease CLINVAR