DPYD, dihydropyrimidine dehydrogenase, 1806

N. diseases: 249; N. variants: 101
Disease: 1p21.3 microdeletion syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4304578
Disease: 1p21.3 microdeletion syndrome
1p21.3 microdeletion syndrome 		0.300 ChromosomalRearrangement phenotype ORPHANET Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability. 22003227 2011
CUI: C4304578
Disease: 1p21.3 microdeletion syndrome
1p21.3 microdeletion syndrome 		0.300 ChromosomalRearrangement phenotype ORPHANET Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder. 21114665 2011