ANK1, ankyrin 1, 286

N. diseases: 166; N. variants: 49
Disease: 8p11.2 deletion syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4304505
Disease: 8p11.2 deletion syndrome
8p11.2 deletion syndrome 		0.300 ChromosomalRearrangement disease ORPHANET A de novo interstitial deletion of 8p11.2 including ANK1 identified in a patient with spherocytosis, psychomotor developmental delay, and distinctive facial features. 22771917 2012