CHDH, choline dehydrogenase, 55349

N. diseases: 158; N. variants: 11
Disease: Conotruncal defect ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect 		0.020 GeneticVariation disease BEFREE The syndrome is characterized by a broad phenotype, whose characterization has expanded considerably within the last decade and includes many associated findings such as craniofacial anomalies (40%), conotruncal defects of the heart (CHD; 70-80%), hypocalcemia (20-60%), and a range of neurocognitive anomalies with high risk of schizophrenia, all with a broad phenotypic variability. 25084529 2014
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect 		0.020 GeneticVariation disease BEFREE Given that patients with septal and conotruncal defect can share a common genetic basis, it is unclear whether patients with additional types of CHD might also have GATA4 mutations. 18055909 2007