Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C0795864
Disease: Smith-Magenis syndrome
Smith-Magenis syndrome 		0.300 GeneticVariation ORPHANET Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. 28213671

2017