ANKRD26, ankyrin repeat domain 26, 22852

N. diseases: 41; N. variants: 7
Disease: Congenital thrombocytopenia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0272278
Disease: Congenital thrombocytopenia
Congenital thrombocytopenia 		0.020 GeneticVariation disease BEFREE Since these characteristics are subtle or non-pathognomonic, molecular testing for ANKRD26 mutation remains the most reliable test to render a diagnosis and should be considered when evaluating a patient or family with congenital thrombocytopenia, particularly if there is a history of myeloid neoplasms. 27123948 2016
CUI: C0272278
Disease: Congenital thrombocytopenia
Congenital thrombocytopenia 		0.020 GeneticVariation disease BEFREE To date, mutations in three different genes within the THC2 locus have been associated with congenital thrombocytopenia, including a mutation in MASTL. 22102272 2011