ATR, ATR serine/threonine kinase, 545

N. diseases: 321; N. variants: 38
Disease: Mental Retardation ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1301785134
rs1301785134
Entrez Id: 545
Gene Symbol: ATR
ATR
CUI: C0025362
Disease:
Mental Retardation 		0.010 GeneticVariation BEFREE The c.2101A>G synonymous change (p.G674G) in the gene for ATR, a key player in the DNA-damage response, has been the first identified genetic cause of Seckel Syndrome (SS), an orphan disease characterized by growth and mental retardation. 27639833 2017