Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777623
rs587777623
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
A 0.700 GeneticVariation CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898

2017

dbSNP: rs587777623
rs587777623
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
A 0.700 GeneticVariation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593

2016

dbSNP: rs587777623
rs587777623
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
A 0.700 GeneticVariation CLINVAR Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation. 26834045

2016

dbSNP: rs587777623
rs587777623
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
A 0.700 GeneticVariation CLINVAR Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly. 24668509

2014