Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.710 GeneticVariation BEFREE We have shown that the two novel combinations of compound heterozygous mutations p.R141H/p.M325T and p.R141H/p.I201T in the BEST1 gene can also lead to the ARB phenotype. 26333019 2016
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.710 GeneticVariation UNIPROT