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: C1266119
Disease: Solitary fibrous tumor
Solitary fibrous tumor 		0.600 FusionGene disease ORPHANET Analysis in 53 tumors confirmed the presence of 7 variants of this fusion transcript in 29 tumors (55%), representing a lower bound for fusion frequency at this locus and suggesting that the NAB2-STAT6 fusion is a distinct molecular feature of SFTs. 23313954 2013
CUI: C1266119
Disease: Solitary fibrous tumor
Solitary fibrous tumor 		0.600 FusionGene disease ORPHANET These studies establish NAB2-STAT6 as the defining driver mutation of SFT and provide an example of how neoplasia can be initiated by converting a transcriptional repressor of mitogenic pathways into a transcriptional activator. 23313952 2013
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
CUI: C0018922
Disease: hemangiopericytoma
hemangiopericytoma 		0.380 FusionGene disease ORPHANET Whole-exome sequencing identifies a recurrent NAB2-STAT6 fusion in solitary fibrous tumors. 23313954 2013
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.120 Biomarker disease HPO
CUI: C0009806
Disease: Constipation
Constipation 		0.100 Biomarker phenotype HPO
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: C0023903
Disease: Liver neoplasms
Liver neoplasms 		0.100 Biomarker group HPO
CUI: C0024031
Disease: Low Back Pain
Low Back Pain 		0.100 Biomarker phenotype HPO
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		0.100 Biomarker group HPO
CUI: C0027766
Disease: Nervous System Neoplasms
Nervous System Neoplasms 		0.100 Biomarker group HPO
CUI: C0028081
Disease: Night sweats
Night sweats 		0.100 Biomarker phenotype HPO
CUI: C0037579
Disease: Soft Tissue Neoplasms
Soft Tissue Neoplasms 		0.100 Biomarker group HPO
CUI: C0041657
Disease: Unconscious State
Unconscious State 		0.100 Biomarker phenotype HPO
CUI: C0042138
Disease: Uterine Neoplasms
Uterine Neoplasms 		0.100 Biomarker group HPO
CUI: C0042258
Disease: Vaginal Neoplasms
Vaginal Neoplasms 		0.100 Biomarker group HPO
CUI: C0080274
Disease: Urinary Retention
Urinary Retention 		0.100 Biomarker phenotype HPO
CUI: C0347944
Disease: Pelvic mass
Pelvic mass 		0.100 Biomarker phenotype HPO
CUI: C1262477
Disease: Weight decreased
Weight decreased 		0.100 Biomarker phenotype HPO
CUI: C1704375
Disease: Hypophosphatemic Rickets
Hypophosphatemic Rickets 		0.100 Biomarker disease HPO
CUI: C1846288
Disease: Recurrent hypoglycemia
Recurrent hypoglycemia 		0.100 Biomarker phenotype HPO
CUI: C2748055
Disease: Hypoinsulinaemia (disorder)
Hypoinsulinaemia (disorder) 		0.100 Biomarker disease HPO
CUI: C4022033
Disease: Neoplasia of the pleura
Neoplasia of the pleura 		0.100 Biomarker disease HPO