NAB2, NGFI-A binding protein 2, 4665

N. diseases: 65; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4025867
Disease: Abnormality of the forehead
Abnormality of the forehead
0.100 Biomarker phenotype HPO
CUI: C4022395
Disease: Abnormality of the mediastinum
Abnormality of the mediastinum
0.100 Biomarker phenotype HPO
CUI: C4025698
Disease: Abnormality of the peritoneum
Abnormality of the peritoneum
0.100 Biomarker disease HPO
CUI: C0001422
Disease: Adenofibroma
Adenofibroma
0.010 AlteredExpression disease BEFREE Recurrent NAB2-STAT6 gene fusions and oestrogen receptor-α expression in pulmonary adenofibromas. 28072477 2017
CUI: C0278764
Disease: Adult Burkitt Lymphoma
Adult Burkitt Lymphoma
0.010 Biomarker disease BEFREE The chromatid lesion at the site of EBV integration involving a recombinogenic and fragile site may have contributed to the development of the NAB-2 BL. 8391183 1993
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.010 Biomarker disease BEFREE Case Report: Next generation sequencing identifies a NAB2-STAT6 fusion in Glioblastoma. 26817999 2016
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma
0.010 Biomarker disease BEFREE The chromatid lesion at the site of EBV integration involving a recombinogenic and fragile site may have contributed to the development of the NAB-2 BL. 8391183 1993
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.010 PosttranslationalModification disease BEFREE These findings suggest that EGR-1 plays important roles on VEGF-A expression in lung cancer cells, and epigenetic silencing of transactivator(s) associated with NAB-2 expression might also contribute to upregulate VEGF-A expression. 20489156 2010
CUI: C0278879
Disease: Childhood Burkitt Lymphoma
Childhood Burkitt Lymphoma
0.010 Biomarker disease BEFREE The chromatid lesion at the site of EBV integration involving a recombinogenic and fragile site may have contributed to the development of the NAB-2 BL. 8391183 1993
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma
0.010 Biomarker disease BEFREE Case Report: Next generation sequencing identifies a NAB2-STAT6 fusion in Glioblastoma. 26817999 2016
Congenital hypomyelinating neuropathy
0.010 Biomarker disease BEFREE Mice lacking both Nab1 and Nab2 show severe congenital hypomyelination of peripheral nerves, with Schwann cell development arresting at the promyelinating stage, despite elevated Egr2 expression. 16136673 2005
CUI: C1332965
Disease: Congenital Mesoblastic Nephroma
Congenital Mesoblastic Nephroma
0.010 GeneticVariation disease BEFREE This review addresses three main neoplastic categories that are associated with specific paraneoplastic phenomena: (1) neoplasms having in common the presence of diffuse mixed inflammatory infiltration (closely simulating an inflammatory pseudotumor) and frequently associated with constitutional symptoms; (2) neoplasms with undifferentiated, anaplastic or rhabdoid cell morphology (frequently SWI/SNF-deficient) associated with diverse paraneoplastic manifestations; and (3) paraneoplasia associated with neoplasms carrying specific gene fusions such as solitary fibrous tumor (STAT6-NAB2 gene fusions), infantile fibrosarcoma and congenital mesoblastic nephroma (ETV6-NTRK3 gene fusions), and angiomatoid fibrous histiocytoma (EWSR1-CREB1 & EWSR1-ATF1 fusions). 30819530 2019
CUI: C0009806
Disease: Constipation
Constipation
0.100 Biomarker phenotype HPO
CUI: C0011847
Disease: Diabetes
Diabetes
0.010 AlteredExpression disease BEFREE Hyperglycemic induction of Egr-1 and absence of NAB-2 repression in retinal endothelium, up-regulates downstream genes involved in pro-thrombotic and pro-inflammatory pathways linking Egr-1 in diabetes mediated vascular aberration of retina. 29307595 2018
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.010 AlteredExpression group BEFREE Hyperglycemic induction of Egr-1 and absence of NAB-2 repression in retinal endothelium, up-regulates downstream genes involved in pro-thrombotic and pro-inflammatory pathways linking Egr-1 in diabetes mediated vascular aberration of retina. 29307595 2018
CUI: C0012569
Disease: Diplopia
Diplopia
0.100 Biomarker phenotype HPO
CUI: C0015672
Disease: Fatigue
Fatigue
0.100 Biomarker phenotype HPO
CUI: C0015967
Disease: Fever
Fever
0.100 Biomarker phenotype HPO
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.010 Biomarker disease BEFREE Case Report: Next generation sequencing identifies a NAB2-STAT6 fusion in Glioblastoma. 26817999 2016
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.010 Biomarker disease BEFREE Case Report: Next generation sequencing identifies a NAB2-STAT6 fusion in Glioblastoma. 26817999 2016
CUI: C0018922
Disease: hemangiopericytoma
hemangiopericytoma
0.380 Biomarker disease BEFREE Most notable classification changes include: adding 'hybrid nerve sheath tumours' to the spectrum of benign nerve sheath tumours; an updated definition of atypical meningioma (WHO grade II), including cases with brain invasion; recognizing dural solitary fibrous tumour (SFT) and haemangiopericytoma (HPC) as a single tumour entity characterized by NAB2 and STAT6 gene fusions for which the term SFT/HPC was chosen; recognizing that pituitary granular cell tumour, spindle cell oncocytoma, and pituicytoma all share nuclear expression of TTF-1, possibly representing a spectrum of a single nosological entity derived from posterior pituitary glial cells. 28295484 2018
CUI: C0018922
Disease: hemangiopericytoma
hemangiopericytoma
0.380 AlteredExpression disease BEFREE 'Papillary' solitary fibrous tumor/hemangiopericytoma with nuclear STAT6 expression and NAB2-STAT6 fusion. 26746203 2016
CUI: C0018922
Disease: hemangiopericytoma
hemangiopericytoma
0.380 GeneticVariation disease BEFREE The finding that meningeal solitary fibrous tumors (SFTs) and meningeal hemangiopericytomas (HPCs) are both characterized by NAB2-STAT6 gene fusion has pushed their inclusion in the WHO 2016 Classification of tumors of the central nervous system (CNS) as different manifestations of the same entity. 29600523 2019
CUI: C0018922
Disease: hemangiopericytoma
hemangiopericytoma
0.380 Biomarker disease BEFREE The 2016 central nervous system (CNS) World Health Organisation (WHO) Update has merged the entities of meningeal solitary fibrous tumor (SFT) and hemangiopericytoma (HPC) into a single entity based on the presence of the nerve growth factor 1A (NGFI-A) binding protein 2 (NAB2)- signal transducer and activator of transcription 6 (STAT6) gene fusion in these tumors. 30233017 2019
CUI: C0018922
Disease: hemangiopericytoma
hemangiopericytoma
0.380 FusionGene disease ORPHANET Identification of recurrent NAB2-STAT6 gene fusions in solitary fibrous tumor by integrative sequencing. 23313952 2013