Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0796037
Disease: Martsolf syndrome
Martsolf syndrome
0.010 GeneticVariation disease BEFREE Recently mutations in the catalytic subunit p130 and the noncatalytic subunit p150 of Rab3 GTPase-activating protein were found to cause Warburg Micro syndrome and Martsolf syndrome, respectively, both of which exhibit mental retardation. 18413245 2008