AKAP12, A-kinase anchoring protein 12, 9590

N. diseases: 99; N. variants: 8
Disease: Congenital Abnormality ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 AlteredExpression group BEFREE The akap12β, one of the akap12 isoforms, was expressed in DFCs which give rise to KV and akap12β-deficient zebrafish embryos showed defective heart laterality due to the fragmentation of DFC clusters which resulted in KV malformation. 31383248 2019