Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931286
Disease: Warburton Anyane Yeboa syndrome
Warburton Anyane Yeboa syndrome
0.300 GermlineCausalMutation phenotype ORPHANET Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B. 15475955 2004