GPR143, G protein-coupled receptor 143, 4935

N. diseases: 47; N. variants: 29
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular
0.400 GeneticVariation disease BEFREE These results allowed us to expand the spectrum of mutations in GPR143 and phenotypes associated with ocular albinism. 28211458 2017
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular
0.400 GeneticVariation disease BEFREE Morpholino-mediated knockdown of OA1 (also known as GPR143), mutations in the human homologue of which cause the most common form of human ocular albinism, induces a major reduction in melanosome number, recapitulating a key feature of the mammalian disease where reduced melanosome numbers precede macromelanosome formation. 25690007 2015
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular
0.400 GeneticVariation disease BEFREE Deep intronic GPR143 mutation in a Japanese family with ocular albinism. 26061757 2015
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular
0.400 GeneticVariation disease BEFREE The ocular albinism type 1 (OA1) protein is a pigment cell‑specific glycoprotein, which shares significant structural and functional features with G protein‑coupled receptors. 24736838 2014
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular
0.400 Biomarker disease BEFREE We have developed a computational procedure to determine the SNPs in the 3'UTR region of mRNA of OCA (TYR, OCA2, TYRP1 and SLC45A2) and OA (GPR143) genes which will be a potential cause for albinism. 25060099 2014
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular
0.400 GeneticVariation disease BEFREE Macular optical coherence tomography findings and GPR143 mutations in patients with ocular albinism. 24526317 2014
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular
0.400 GeneticVariation disease BEFREE In conclusion, a novel splicing site mutation of the GPR143 gene was found in a Han Chinese congenital ocular albinism pedigree. 24301936 2013
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular
0.400 GeneticVariation disease BEFREE This is the first report that p.Y269X mutation of GPR143 gene is responsible for the pathogenesis of familial ocular albinism. 22916221 2012
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular
0.400 GeneticVariation disease BEFREE We also performed a full genome screen for chromosomal abnormalities, and searched for mutations in two genes (GPR143 and OCA2) known to be associated with ocular albinism and PAX6 gene known to be associated with aniridia. 21264491 2011
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular
0.400 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: C0078917
Disease: Albinism, Ocular
Albinism, Ocular
0.400 GeneticVariation disease BEFREE A novel deletion in the OA1 gene was identified in a Spanish family with ocular albinism. 20649618 2010
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular
0.400 GeneticVariation disease BEFREE The novel mutation p.G315X in the OA1 gene was identified in a Chinese family with ocular albinism, which is predicted to generate a premature stop codon. 19123159 2009
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular
0.400 GeneticVariation disease BEFREE Iris hyperpigmentation in a Chinese family with ocular albinism and the GPR143 mutation. 19610097 2009
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular
0.400 GeneticVariation disease LHGDN These findings confirm that mutations in the OA1 gene are associated with the majority of X-linked ocular albinism cases. 17960122 2007
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular
0.400 GeneticVariation disease BEFREE Two novel mutations in the OA1 gene were identified in two families with ocular albinism. 17960122 2007
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular
0.400 GeneticVariation disease LHGDN Our results indicate that a mutation in the GPR143 gene can cause a variant form of ocular albinism, with congenital nystagmus as the most prominent and only consistent finding in all patients in this Chinese family. 17516023 2007
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular
0.400 GeneticVariation disease BEFREE Our results indicate that a mutation in the GPR143 gene can cause a variant form of ocular albinism, with congenital nystagmus as the most prominent and only consistent finding in all patients in this Chinese family. 17516023 2007
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular
0.400 Biomarker disease LHGDN 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: C0078917
Disease: Albinism, Ocular
Albinism, Ocular
0.400 GeneticVariation disease BEFREE An intronic point mutation was identified in the ocular albinism type 1 (OA1) gene (HUGO symbol, GPR143) in a family with the X-linked form of ocular albinism. 16550551 2006
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular
0.400 GeneticVariation disease BEFREE Abnormal crossing of the optic fibres shown by evoked magnetic fields in patients with ocular albinism with a novel mutation in the OA1 gene. 15965158 2005
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular
0.400 GeneticVariation disease LHGDN Mutational analysis of the OA1 gene in ocular albinism. 12868035 2003
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular
0.400 GeneticVariation disease BEFREE Mutational analysis of the OA1 gene in ocular albinism. 12868035 2003
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular
0.400 GeneticVariation disease LHGDN New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene. 11793467 2002
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular
0.400 Biomarker disease MGD Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1. 11092754 2000
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular
0.400 GeneticVariation disease BEFREE In order to shed light into the molecular pathogenesis of ocular albinism and possibly define critical functional domains within the OA1 protein, we characterized 19 independent missense mutations with respect to processing and subcellular distribution on expression in COS-7 cells. 11115845 2000