SIX3, SIX homeobox 3, 6496

N. diseases: 117; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly 		0.500 GermlineCausalMutation disease ORPHANET
CUI: C0431363
Disease: Alobar Holoprosencephaly
Alobar Holoprosencephaly 		0.500 GermlineCausalMutation disease ORPHANET
CUI: C0751617
Disease: Semilobar Holoprosencephaly
Semilobar Holoprosencephaly 		0.500 GermlineCausalMutation disease ORPHANET
CUI: C1834877
Disease: HOLOPROSENCEPHALY 2 (disorder)
HOLOPROSENCEPHALY 2 (disorder) 		0.920 CausalMutation disease CLINVAR
CUI: C0266484
Disease: Schizencephaly
Schizencephaly 		0.610 CausalMutation disease CLINVAR
CUI: C1840528
Disease: HOLOPROSENCEPHALY 4 (disorder)
HOLOPROSENCEPHALY 4 (disorder) 		0.100 CausalMutation disease CLINVAR
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		0.100 CausalMutation disease CLINVAR
CUI: C1834877
Disease: HOLOPROSENCEPHALY 2 (disorder)
HOLOPROSENCEPHALY 2 (disorder) 		0.920 AlteredExpression disease BEFREE However, embryonic SIX3 expression is not limited to the eye field, and SIX3 has been found to be mutated in some patients with holoprosencephaly type 2 (HPE2), suggesting that SIX3 has wide implications in head development. 10512683 1999
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.050 AlteredExpression phenotype BEFREE Importantly, interactions between AURKA and AURKB stabilize and protect AURKA/B from degradation, and overexpression of SIX3 does not affect these interactions; SIX3 also acts as a tumor suppressor, and it increases p53 activity and expression at the post-translational level by the negative regulation of AURKA or AURKB, reduces the events of numerical centrosomal aberrations and misaligned chromosomes, and significantly inhibits the proliferation, invasion, and tumorigenesis of astrocytoma in vitro and in vivo. 28595628 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 AlteredExpression disease BEFREE However, high SIX3 mRNA level was a protective factor for OS and RFS of basal-like breast cancer patients.Our study suggested that members of SIX family played distinct roles in breast cancer. 27399099 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 AlteredExpression group BEFREE Considering the highly specific expression pattern of Six3, our finding that it is expressed in EMC suggests that it plays a pivotal role in the development of these tumors. 12543801 2003
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 AlteredExpression disease BEFREE However, high SIX3 mRNA level was a protective factor for OS and RFS of basal-like breast cancer patients.Our study suggested that members of SIX family played distinct roles in breast cancer. 27399099 2016
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.020 AlteredExpression phenotype BEFREE Epigenetically controlled Six3 expression regulates glioblastoma cell proliferation and invasion alongside modulating the activation levels of WNT pathway members. 28643150 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.020 AlteredExpression phenotype BEFREE Upregulation of sine oculis homeobox homolog 3 is associated with proliferation, invasion, migration, as well as poor prognosis of esophageal cancer. 30672777 2019
CUI: C1275278
Disease: Extraskeletal Myxoid Chondrosarcoma
Extraskeletal Myxoid Chondrosarcoma 		0.020 AlteredExpression disease BEFREE Considering the highly specific expression pattern of Six3, our finding that it is expressed in EMC suggests that it plays a pivotal role in the development of these tumors. 12543801 2003
CUI: C1275278
Disease: Extraskeletal Myxoid Chondrosarcoma
Extraskeletal Myxoid Chondrosarcoma 		0.020 AlteredExpression disease BEFREE Our data suggest that aberrant coexpression of NOR1 and SIX3 is a potential alternative mechanism underlying the development of EMC. 15262426 2004
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 AlteredExpression group BEFREE Moreover, SIX3 mRNA expression was associated with significantly improved overall survival (OS) and progression-free survival (PFS) in adenocarcinoma patients and patients with bronchioloalveolar carcinoma (BAC) features. 23977152 2013
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		0.010 AlteredExpression disease BEFREE Importantly, interactions between AURKA and AURKB stabilize and protect AURKA/B from degradation, and overexpression of SIX3 does not affect these interactions; SIX3 also acts as a tumor suppressor, and it increases p53 activity and expression at the post-translational level by the negative regulation of AURKA or AURKB, reduces the events of numerical centrosomal aberrations and misaligned chromosomes, and significantly inhibits the proliferation, invasion, and tumorigenesis of astrocytoma in vitro and in vivo. 28595628 2017
CUI: C0007120
Disease: Bronchioloalveolar Adenocarcinoma
Bronchioloalveolar Adenocarcinoma 		0.010 AlteredExpression disease BEFREE Moreover, SIX3 mRNA expression was associated with significantly improved overall survival (OS) and progression-free survival (PFS) in adenocarcinoma patients and patients with bronchioloalveolar carcinoma (BAC) features. 23977152 2013
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.010 AlteredExpression group BEFREE The Kaplan-Meier method and Cox's proportional hazards model were performed to analyze the correlations between SIX3 expression and EC clinical outcomes. 30672777 2019
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 AlteredExpression disease BEFREE Epigenetically controlled Six3 expression regulates glioblastoma cell proliferation and invasion alongside modulating the activation levels of WNT pathway members. 28643150 2017
CUI: C0017638
Disease: Glioma
Glioma 		0.010 AlteredExpression disease BEFREE Our results showed that Six3 was down-regulated in human glioma tissues and human glioma SHG-44, U251, SF126 and U373-MG cells compared with the normal tissues. 28643150 2017
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.010 AlteredExpression disease BEFREE Expression of SIX2 and SIX3, transcription factors without prior known functions in the pancreas and linked to fasting hyperglycemia risk, increased with age specifically in human islet β cells. 27133132 2016
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.010 AlteredExpression disease BEFREE Collectively, two miRNAs, hsa-miR-19-3p and hsa-miR106b-3p, and transcription factor SIX3 were identified and may be reliable markers for prognostic and treatment of osteosarcoma. 27315542 2017
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.010 AlteredExpression disease BEFREE Association of SIX3 expression levels with clinical outcomes of patients with lung adenocarcinoma was evaluated using the Kaplan-Meier method and a multivariate Cox proportional hazards regression model. 23977152 2013