NKX2-2, NK2 homeobox 2, 4821

N. diseases: 32; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
0.310 Biomarker disease GENOMICS_ENGLAND We identified homozygous mutations in 7 different genes in 11 unrelated patients and show that NKX2-2 and MNX1 are etiological genes for neonatal diabetes, thus confirming their key role in development of the human pancreas. 24411943 2014
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
0.310 Biomarker disease BEFREE We identified homozygous mutations in 7 different genes in 11 unrelated patients and show that NKX2-2 and MNX1 are etiological genes for neonatal diabetes, thus confirming their key role in development of the human pancreas. 24411943 2014
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
0.310 Biomarker disease GENOMICS_ENGLAND
CUI: C0011303
Disease: Demyelinating Diseases
Demyelinating Diseases
0.200 Biomarker group RGD Transient upregulation of Nkx2.2 expression in oligodendrocyte lineage cells during remyelination. 15048854 2004
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 Biomarker group BEFREE Mechanistically, we revealed that NKX2-2 acts as a tumor suppressor partially by mediating the transcriptional downregulation of COL5A2, PLAU, SEMA7A and S1PR1 genes. 30210629 2018
CUI: C1261473
Disease: Sarcoma
Sarcoma
0.040 AlteredExpression group BEFREE One EWSR1-NFATC2 sarcoma co-expressed PAX7 and NKX2-2. 29920735 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 Biomarker group BEFREE NKX2-2 was positive in 9 (75%) mesenchymal chondrosarcomas, 8 (80%) olfactory neuroblastomas, 1 CIC-DUX4 sarcoma, 1 poorly differentiated synovial sarcoma, 1 neuroblastoma, 2 unclassified round cell sarcomas, and 3 small cell carcinomas; all other EWSR1-associated tumors were negative for NKX2-2, apart from 1 desmoplastic small round cell tumor, 1 myoepithelioma, and 1 myoepithelial carcinoma. 26847175 2016
CUI: C1261473
Disease: Sarcoma
Sarcoma
0.040 Biomarker group BEFREE Nonetheless, NKX2-2 may be helpful to distinguish Ewing sarcoma from some histologic mimics including CIC-DUX4 and BCOR-CCNB3 sarcomas. 26847175 2016
CUI: C1261473
Disease: Sarcoma
Sarcoma
0.040 AlteredExpression group LHGDN EWS/FLI mediates transcriptional repression via NKX2.2 during oncogenic transformation in Ewing's sarcoma. 18414662 2008
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 AlteredExpression group BEFREE Five of 10 genes (i.e., six-transmembrane epithelial antigen of the prostate 1 [STEAP1], cyclin D1 [CCND1], NKX2-2 transcription factor [NKX2-2], plakophilin 1 [PKP1], and transmembrane protein 47 [TMEM47]) were chosen for further analyses based on their steep linear dynamic range in detecting tumor cells seeded in normal mononuclear cells and on their homogeneous expression among EFT tumors. 18056173 2007
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 Biomarker group BEFREE In addition to GFAP, therefore, YKL-40, ApoE, ASCL1, and NKX2-2 represent promising tumor cell markers to distinguish oligodendrogliomas from astrocytomas. 17146289 2006
CUI: C1261473
Disease: Sarcoma
Sarcoma
0.040 Biomarker group LHGDN Expression profiling of EWS/FLI identifies NKX2.2 as a critical target gene in Ewing's sarcoma. 16697960 2006
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.020 Biomarker phenotype BEFREE In summary, our studies of NKX2-2 revealed new molecular mechanisms underlying osteosarcoma proliferation and metastasis and may provide a series of potential therapeutic targets for osteosarcoma. 30210629 2018
CUI: C0553580
Disease: Ewings sarcoma
Ewings sarcoma
0.020 AlteredExpression disease BEFREE The 20p11.22 locus is near NKX2-2, a highly overexpressed gene in EWS. 30093639 2018
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
Malignant neoplasm of soft tissue
0.020 AlteredExpression group BEFREE One EWSR1-NFATC2 sarcoma co-expressed PAX7 and NKX2-2. 29920735 2018
CUI: C0553580
Disease: Ewings sarcoma
Ewings sarcoma
0.020 Biomarker disease BEFREE Nonetheless, NKX2-2 may be helpful to distinguish Ewing sarcoma from some histologic mimics including CIC-DUX4 and BCOR-CCNB3 sarcomas. 26847175 2016
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
Malignant neoplasm of soft tissue
0.020 Biomarker group BEFREE Nonetheless, NKX2-2 may be helpful to distinguish Ewing sarcoma from some histologic mimics including CIC-DUX4 and BCOR-CCNB3 sarcomas. 26847175 2016
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.020 Biomarker phenotype BEFREE Marker negativity of STEAP1, CCND1, or NKX2-2, as well as three markers in combination, was strongly correlated with patient survival as well as survival without new metastases. 18056173 2007
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease
0.010 AlteredExpression disease BEFREE NKL homeobox gene NKX2-2 is aberrantly expressed in Hodgkin lymphoma. 30680064 2018
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.010 Biomarker disease BEFREE In summary, our studies of NKX2-2 revealed new molecular mechanisms underlying osteosarcoma proliferation and metastasis and may provide a series of potential therapeutic targets for osteosarcoma. 30210629 2018
CUI: C0220597
Disease: Adult Hodgkin Lymphoma
Adult Hodgkin Lymphoma
0.010 AlteredExpression disease BEFREE NKL homeobox gene NKX2-2 is aberrantly expressed in Hodgkin lymphoma. 30680064 2018
CUI: C0220644
Disease: Childhood Hodgkin Lymphoma
Childhood Hodgkin Lymphoma
0.010 AlteredExpression disease BEFREE NKL homeobox gene NKX2-2 is aberrantly expressed in Hodgkin lymphoma. 30680064 2018
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone
0.010 Biomarker disease BEFREE In summary, our studies of NKX2-2 revealed new molecular mechanisms underlying osteosarcoma proliferation and metastasis and may provide a series of potential therapeutic targets for osteosarcoma. 30210629 2018
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma
0.010 Biomarker disease BEFREE In summary, our studies of NKX2-2 revealed new molecular mechanisms underlying osteosarcoma proliferation and metastasis and may provide a series of potential therapeutic targets for osteosarcoma. 30210629 2018
CUI: C1333064
Disease: Classical Hodgkin's Lymphoma
Classical Hodgkin's Lymphoma
0.010 Biomarker disease BEFREE Taken together, our data reveal ectopic activation of a neural gene network in HL placing NKX2-2 at its hub, highlighting a novel oncogenic impact of NKL homeobox genes in B-cell malignancies. 30680064 2018