ASXL2, ASXL transcriptional regulator 2, 55252

N. diseases: 89; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310672
Disease: SHASHI-PENA SYNDROME
SHASHI-PENA SYNDROME 		0.400 Biomarker disease GENOMICS_ENGLAND De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. 27693232 2016
CUI: C4310672
Disease: SHASHI-PENA SYNDROME
SHASHI-PENA SYNDROME 		0.400 Biomarker disease GENOMICS_ENGLAND De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. 27693232 2016
CUI: C4310672
Disease: SHASHI-PENA SYNDROME
SHASHI-PENA SYNDROME 		0.400 CausalMutation disease CLINVAR
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.330 GeneticVariation disease BEFREE We identified ASXL2 (34.1%) and ZBTB7A (9.8%) mutations in only AML patients with t(8;21). 30251205 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.330 GeneticVariation disease BEFREE Clinical features of pediatric acute myeloid leukemia (AML) patients with ASXL2 mutations remain unclear. 28063196 2017
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.330 Biomarker disease CTD_human Outside of signaling alterations, RUNX1-RUNX1T1 and CBFB-MYH11 AMLs demonstrated remarkably different spectra of cooperating mutations, as RUNX1-RUNX1T1 cases harbored recurrent mutations in DHX15 and ZBTB7A, as well as an enrichment of mutations in epigenetic regulators, including ASXL2 and the cohesin complex. 27798625 2016
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.330 GeneticVariation disease BEFREE These results identify a high-frequency mutation in t(8;21) AML and identify the need for future studies to investigate the clinical and biological relevance of ASXL2 mutations in this unique subset of AML. 24973361 2014
CUI: C0026998
Disease: Acute Myeloid Leukemia, M1
Acute Myeloid Leukemia, M1 		0.300 Biomarker disease CTD_human The genomic landscape of core-binding factor acute myeloid leukemias. 27798625 2016
CUI: C1879321
Disease: Acute Myeloid Leukemia (AML-M2)
Acute Myeloid Leukemia (AML-M2) 		0.300 Biomarker disease CTD_human The genomic landscape of core-binding factor acute myeloid leukemias. 27798625 2016
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.300 Biomarker disease CTD_human Recurrent inactivation of STAG2 in bladder cancer is not associated with aneuploidy. 24121791 2013
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.300 Biomarker disease CTD_human Recurrent inactivation of STAG2 in bladder cancer is not associated with aneuploidy. 24121791 2013
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.110 Biomarker disease BEFREE Although overlapping features with Bohring-Opitz and Bainbridge-Ropers syndromes exist, features that distinguish the ASXL2-associated condition from ASXL1- and ASXL3-related disorders are macrocephaly, absence of growth retardation, and more variability in the degree of intellectual disabilities. 27693232 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 Biomarker group BEFREE Although overlapping features with Bohring-Opitz and Bainbridge-Ropers syndromes exist, features that distinguish the ASXL2-associated condition from ASXL1- and ASXL3-related disorders are macrocephaly, absence of growth retardation, and more variability in the degree of intellectual disabilities. 27693232 2016
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.110 Biomarker disease HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 Biomarker group HPO
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 CausalMutation disease CLINVAR
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		0.100 CausalMutation disease CLINVAR
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		0.100 Biomarker disease HPO
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 Biomarker group HPO
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.100 CausalMutation disease CLINVAR
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 Biomarker phenotype HPO