GDF1, growth differentiation factor 1, 2657

N. diseases: 136; N. variants: 14
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 		0.010 GeneticVariation disease BEFREE First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation. 27683195 2017