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 A novel GPR143 mutation in a Chinese family with X‑linked ocular albinism type 1. 31746431 2020
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I
0.800 Biomarker disease 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
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I
0.800 GeneticVariation disease BEFREE In this study, we describe the clinical features and investigate the GPR143 gene mutations in six Chinese families with OA1 and evaluate the thickness changes of iris for the affected males and female carriers. 31574285 2019
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I
0.800 GeneticVariation disease BEFREE Six genes are associated with autosomal recessive OCA (TYR, OCA2, TYRP1, SLC45A2, SLC24A5 and LRMDA), and one gene, GPR143, is associated with X-linked ocular albinism (OA). 30679655 2019
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I
0.800 GeneticVariation disease BEFREE OA1 associated with late-onset sensorineural hearing loss was previously reported in a single family and hypothesized to be caused by a contiguous gene deletion syndrome involving GPR143 and the adjacent gene, TBL1X. 30160833 2018
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 Biomarker disease BEFREE Identification of Novel G Protein-Coupled Receptor 143 Ligands as Pharmacologic Tools for Investigating X-Linked Ocular Albinism. 28632878 2017
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 Biomarker disease BEFREE There is some debate regarding GPR143 function and elucidating the role of this receptor may be instrumental for understanding neurogenesis during eye development and for devising therapies for ocular albinism type I. 27720922 2017
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 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 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 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 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 Biomarker disease GENOMICS_ENGLAND 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 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 Biomarker disease GENOMICS_ENGLAND A novel GPR143 duplication mutation in a Chinese family with X-linked congenital nystagmus. 19390656 2009
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 Our results confirm that GPR143 is the major locus for OA1 and that exon 2 is a region of high susceptibility to deletions. 19604113 2009
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 In the present study, the mutation analysis of G protein-coupled receptor 143 gene (GPR143) and clinical characteristics were assessed in Chinese patients with OA1. 18978956 2008
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I
0.800 GeneticVariation disease UNIPROT In the present study, the mutation analysis of G protein-coupled receptor 143 gene (GPR143) and clinical characteristics were assessed in Chinese patients with OA1. 18978956 2008
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 UNIPROT Identification of two novel mutations in families with X-linked ocular albinism. 17960122 2007