DEAF1, DEAF1 transcription factor, 10522

N. diseases: 156; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037822
Disease: Speech Disorders
Speech Disorders
0.120 GeneticVariation group BEFREE Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems. 24726472 2014
CUI: C0037822
Disease: Speech Disorders
Speech Disorders
0.120 GeneticVariation group BEFREE Intellectual disability: novel mutations in DEAF1 cause speech impairment and behavioral problems. 25091821 2014
CUI: C0037822
Disease: Speech Disorders
Speech Disorders
0.120 Biomarker group HPO