rs886037776, EHMT1

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
KLEEFSTRA SYNDROME 1
CUI: C0795833
Disease: KLEEFSTRA SYNDROME 1
0.700 CausalMutation CLINVAR Targeted next generation sequencing of a panel of autism-related genes identifies an EHMT1 mutation in a Kleefstra syndrome patient with autism and normal intellectual performance. 27651234 2016
Autism Spectrum Disorders
CUI: C1510586
Disease: Autism Spectrum Disorders
0.700 CausalMutation CLINVAR Targeted next generation sequencing of a panel of autism-related genes identifies an EHMT1 mutation in a Kleefstra syndrome patient with autism and normal intellectual performance. 27651234 2016