ANKRD26, ankyrin repeat domain 26, 22852

N. diseases: 41; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1861185
Disease: THROMBOCYTOPENIA 2 (disorder)
THROMBOCYTOPENIA 2 (disorder) 		0.790 Biomarker disease CLINGEN A novel nucleotide substitution in the 5' untranslated region of ANKRD26 gene is associated with inherited thrombocytopenia: a report of two new families. 30747248 2019
CUI: C1861185
Disease: THROMBOCYTOPENIA 2 (disorder)
THROMBOCYTOPENIA 2 (disorder) 		0.790 GeneticVariation disease BEFREE Moreover, investigation of one patient with the c.3G>A showed that mutation was associated with strong ANKRD26 overexpression in vivo, which is the proposed mechanism for predisposition to AML in THC2 patients. 28100250 2017
CUI: C1861185
Disease: THROMBOCYTOPENIA 2 (disorder)
THROMBOCYTOPENIA 2 (disorder) 		0.790 GeneticVariation disease BEFREE Thrombocytopenia 2 (THC2) is an autosomal-dominant disorder caused by point substitutions in the 5'UTR of the ANKRD26 gene. 28976612 2017
CUI: C1861185
Disease: THROMBOCYTOPENIA 2 (disorder)
THROMBOCYTOPENIA 2 (disorder) 		0.790 Biomarker disease CLINGEN A novel ANKRD26 gene variant causing inherited thrombocytopenia in a family of Finnish origin: Another brick in the wall? 28109976 2017
CUI: C1861185
Disease: THROMBOCYTOPENIA 2 (disorder)
THROMBOCYTOPENIA 2 (disorder) 		0.790 GeneticVariation disease BEFREE The clinical and laboratory characteristics of patients with non-syndromic, autosomal dominant thrombocytopenia secondary to germ line ANKRD26 mutations appear to be heterogeneous. 27123948 2016
CUI: C1861185
Disease: THROMBOCYTOPENIA 2 (disorder)
THROMBOCYTOPENIA 2 (disorder) 		0.790 Biomarker disease GENOMICS_ENGLAND Discussing and managing hematologic germ line variants. 27881370 2016
CUI: C1861185
Disease: THROMBOCYTOPENIA 2 (disorder)
THROMBOCYTOPENIA 2 (disorder) 		0.790 GeneticVariation disease BEFREE Since the dominant thrombocytopenias due to mutations in RUNX1 and ANKRD26 are also characterized by normal platelet size and predispose to hematologic malignancies, we suggest that screening for ETV6, RUNX1 and ANKRD26 mutations should be performed in all subjects with autosomal dominant thrombocytopenia and normal platelet size. 27365488 2016
CUI: C1861185
Disease: THROMBOCYTOPENIA 2 (disorder)
THROMBOCYTOPENIA 2 (disorder) 		0.790 GeneticVariation disease BEFREE We identified chromosomal deletions within the WASP gene in two patients with Wiskott-Aldrich syndrome; a missense mutation in a patient with X-linked thrombocytopenia; and mutations in the RUNX1 gene of five patients with familial platelet disorder with propensity to acute myelogenous leukemia, and in the ANKRD26 gene of four patients with autosomal dominant thrombocytopenia-2. 26175287 2015
CUI: C1861185
Disease: THROMBOCYTOPENIA 2 (disorder)
THROMBOCYTOPENIA 2 (disorder) 		0.790 Biomarker disease CLINGEN Childhood diagnosis of genetic thrombocytopenia with mutation in the ankyrine repeat domain 26 gene. 25902755 2015
CUI: C1861185
Disease: THROMBOCYTOPENIA 2 (disorder)
THROMBOCYTOPENIA 2 (disorder) 		0.790 Biomarker disease CLINGEN We identified chromosomal deletions within the WASP gene in two patients with Wiskott-Aldrich syndrome; a missense mutation in a patient with X-linked thrombocytopenia; and mutations in the RUNX1 gene of five patients with familial platelet disorder with propensity to acute myelogenous leukemia, and in the ANKRD26 gene of four patients with autosomal dominant thrombocytopenia-2. 26175287 2015
CUI: C1861185
Disease: THROMBOCYTOPENIA 2 (disorder)
THROMBOCYTOPENIA 2 (disorder) 		0.790 Biomarker disease CLINGEN Using megakaryocytes (MK) isolated from THC2 patients and healthy subjects, we demonstrated that THC2-associated mutations in the 5' UTR of ANKRD26 resulted in loss of runt-related transcription factor 1 (RUNX1) and friend leukemia integration 1 transcription factor (FLI1) binding. 24430186 2014
CUI: C1861185
Disease: THROMBOCYTOPENIA 2 (disorder)
THROMBOCYTOPENIA 2 (disorder) 		0.790 GeneticVariation disease BEFREE Using megakaryocytes (MK) isolated from THC2 patients and healthy subjects, we demonstrated that THC2-associated mutations in the 5' UTR of ANKRD26 resulted in loss of runt-related transcription factor 1 (RUNX1) and friend leukemia integration 1 transcription factor (FLI1) binding. 24430186 2014
CUI: C1861185
Disease: THROMBOCYTOPENIA 2 (disorder)
THROMBOCYTOPENIA 2 (disorder) 		0.790 Biomarker disease BEFREE ANKRD26-related thrombocytopenia (ANKRD26-RT) is an autosomal-dominant thrombocytopenia caused by mutations in the 5'UTR of the ANKRD26 gene. 23223974 2013
CUI: C1861185
Disease: THROMBOCYTOPENIA 2 (disorder)
THROMBOCYTOPENIA 2 (disorder) 		0.790 Biomarker disease CLINGEN ANKRD26-related thrombocytopenia and myeloid malignancies. 24030261 2013
CUI: C1861185
Disease: THROMBOCYTOPENIA 2 (disorder)
THROMBOCYTOPENIA 2 (disorder) 		0.790 Biomarker disease CLINGEN Due to the positive family history and normal thrombocyte morphology ANKRD26-associated thrombocytopenia 2 (THC2) was suspected. 23677566 2013
CUI: C1861185
Disease: THROMBOCYTOPENIA 2 (disorder)
THROMBOCYTOPENIA 2 (disorder) 		0.790 Biomarker disease CLINGEN However, we recently identified mutations in the 5'-untranslated region of the ANKRD26 gene in 9 THC2 families. 21467542 2011
CUI: C1861185
Disease: THROMBOCYTOPENIA 2 (disorder)
THROMBOCYTOPENIA 2 (disorder) 		0.790 GeneticVariation disease BEFREE However, we recently identified mutations in the 5'-untranslated region of the ANKRD26 gene in 9 THC2 families. 21467542 2011
CUI: C1861185
Disease: THROMBOCYTOPENIA 2 (disorder)
THROMBOCYTOPENIA 2 (disorder) 		0.790 Biomarker disease GENOMICS_ENGLAND Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2. 21211618 2011
CUI: C1861185
Disease: THROMBOCYTOPENIA 2 (disorder)
THROMBOCYTOPENIA 2 (disorder) 		0.790 Biomarker disease GENOMICS_ENGLAND Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2. 21211618 2011
CUI: C1861185
Disease: THROMBOCYTOPENIA 2 (disorder)
THROMBOCYTOPENIA 2 (disorder) 		0.790 Biomarker disease CLINGEN Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2. 21211618 2011
CUI: C1861185
Disease: THROMBOCYTOPENIA 2 (disorder)
THROMBOCYTOPENIA 2 (disorder) 		0.790 Biomarker disease GENOMICS_ENGLAND A mutation in the acyl-coenzyme A binding domain-containing protein 5 gene (ACBD5 ) identified in autosomal dominant thrombocytopenia. 20626622 2010
CUI: C1861185
Disease: THROMBOCYTOPENIA 2 (disorder)
THROMBOCYTOPENIA 2 (disorder) 		0.790 Biomarker disease BEFREE The gene for a novel nonsyndromic autosomal dominant thrombocytopenia has been previously mapped to a region on human chromosome 10p11-12 (THC2, OMIM number *188000). 12890928 2003
CUI: C1861185
Disease: THROMBOCYTOPENIA 2 (disorder)
THROMBOCYTOPENIA 2 (disorder) 		0.790 Biomarker disease GENOMICS_ENGLAND An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p. 10521306 1999
CUI: C1861185
Disease: THROMBOCYTOPENIA 2 (disorder)
THROMBOCYTOPENIA 2 (disorder) 		0.790 CausalMutation disease CLINVAR
CUI: C1861185
Disease: THROMBOCYTOPENIA 2 (disorder)
THROMBOCYTOPENIA 2 (disorder) 		0.790 Biomarker disease CTD_human