DEAF1, DEAF1 transcription factor, 10522

N. diseases: 156; N. variants: 13
Disease: Smith-Magenis syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0795864
Disease: Smith-Magenis syndrome
Smith-Magenis syndrome 		0.300 GeneticVariation disease ORPHANET Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. 28213671 2017