ANK3, ankyrin 3, 288

N. diseases: 106; N. variants: 58
Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.020 GeneticVariation group BEFREE First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features. 28687526 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.020 GeneticVariation group BEFREE The GRLB and ANK3 mutations were absent in relatives with ID as well as in control databases. 26055424 2016