ANK2, ankyrin 2, 287

N. diseases: 71; N. variants: 37
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1833154
Disease: Long Qt Syndrome 4
Long Qt Syndrome 4
0.110 GeneticVariation disease BEFREE Pathogenic long QT mutations often comprise high phenotypic variability and particularly variants in ANK2 (long QT syndrome 4) frequently lack QT prolongation. 30929919 2019
CUI: C1833154
Disease: Long Qt Syndrome 4
Long Qt Syndrome 4
0.110 CausalMutation disease CLINVAR