rs1057524157, DEAF1

N. diseases: 19
Disease: Repetitive compulsive behavior ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Repetitive compulsive behavior
CUI: C1969697
Disease: Repetitive compulsive behavior
0.700 GeneticVariation CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898 2017
Repetitive compulsive behavior
CUI: C1969697
Disease: Repetitive compulsive behavior
0.700 GeneticVariation CLINVAR Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. 28213671 2017