ANKRD11, ankyrin repeat domain 11, 29123

N. diseases: 177; N. variants: 66
Disease: Alveolar capillary dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2677362
Disease: Alveolar capillary dysplasia
Alveolar capillary dysplasia 		0.010 GeneticVariation disease BEFREE Contiguous gene deletions involving ANKRD11 in 16q24.3 are associated with autism spectrum disorder (ASD) and intellectual disability (ID), while 16q24.1 deletions affecting FOXF1 are associated with congenital renal malformations, alveolar capillary dysplasia, and various other abnormalities. 23335808 2013