Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		0.100 GeneticVariation CLINVAR Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. 28213671

2017
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		0.100 GeneticVariation CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898

2017