DMBT1, deleted in malignant brain tumors 1, 1755

N. diseases: 135; N. variants: 5
Disease: Cat eye syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265493
Disease: Cat eye syndrome
Cat eye syndrome 		0.010 GeneticVariation disease BEFREE The SALSA MLPA P250-B1 DiGeorge Probemix showed duplication of gene dosage in the CES region. aCGH showed a 1.26-Mb duplication at 22q11.1-q11.21 encompassing CECR1-CECR7. 23747353 2013