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: C0001916
Disease: Albinism
Albinism
0.120 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: C0001916
Disease: Albinism
Albinism
0.120 GeneticVariation disease BEFREE Following clinical ophthalmological evaluation, GPR143 gene mutational analyses were performed in a cohort of 15 pediatric male patients with clinical signs of albinism. 22486324 2012
CUI: C0001916
Disease: Albinism
Albinism
0.120 GeneticVariation disease CLINVAR Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism. 8634705 1995