RERE, arginine-glutamic acid dipeptide repeats, 473

N. diseases: 215; N. variants: 48
Disease: Retinitis Pigmentosa ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs751043542
rs751043542
Entrez Id: 473
Gene Symbol: RERE
RERE
CUI: C0035334
Disease:
Retinitis Pigmentosa 		0.010 GeneticVariation BEFREE Interestingly, in one pedigree, the most common causal variant for ESCS (p.R311Q) cosegregated with the adRP-linked p.G56R mutation, and the compound heterozygotes exhibited an ESCS-like phenotype, which in 1 of the 2 cases was strikingly "milder" than the patients carrying the p.G56R mutation alone. 19006237 2009