CNTNAP2, contactin associated protein 2, 26047

N. diseases: 203; N. variants: 46
Disease: ATRIAL SEPTAL DEFECT 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1862389
Disease: ATRIAL SEPTAL DEFECT 1
ATRIAL SEPTAL DEFECT 1 		0.020 Biomarker disease BEFREE Mouse Cntnap2 and Human CNTNAP2 ASD Alleles Cell Autonomously Regulate PV+ Cortical Interneurons. 29028946 2018
CUI: C1862389
Disease: ATRIAL SEPTAL DEFECT 1
ATRIAL SEPTAL DEFECT 1 		0.020 Biomarker disease BEFREE Caspr2-reactive antibody cloned from a mother of an ASD child mediates an ASD-like phenotype in mice. 27698429 2016