RERE, arginine-glutamic acid dipeptide repeats, 473

N. diseases: 215; N. variants: 48
Disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs878853270
rs878853270
Entrez Id: 473
Gene Symbol: RERE
RERE
CUI: C4310772
Disease:
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART 		0.700 GeneticVariation UNIPROT De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions. 27087320 2016