rs267606827, FOXG1

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
FOXG1 syndrome
CUI: C3150705
Disease: FOXG1 syndrome
0.700 CausalMutation CLINVAR
Neurodevelopmental Disorders
CUI: C1535926
Disease: Neurodevelopmental Disorders
0.010 GeneticVariation BEFREE The subject with the p.Trp308X mutation presented with a severe RTT-like neurodevelopmental disorder, whereas the p.Tyr400X allele was associated with a classical clinical RTT presentation. 19564653 2010
Rett Syndrome
CUI: C0035372
Disease: Rett Syndrome
0.010 GeneticVariation BEFREE The subject with the p.Trp308X mutation presented with a severe RTT-like neurodevelopmental disorder, whereas the p.Tyr400X allele was associated with a classical clinical RTT presentation. 19564653 2010