DEAF1, DEAF1 transcription factor, 10522

N. diseases: 156; N. variants: 13
Disease: 2-3 toe syndactyly ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057524157
rs1057524157
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C4551570
Disease:
2-3 toe syndactyly 		T 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: rs1057524157
rs1057524157
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C4551570
Disease:
2-3 toe syndactyly 		T 0.700 GeneticVariation CLINVAR Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. 28213671 2017