STAG2, stromal antigen 2, 10735

N. diseases: 132; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.570 Biomarker disease BEFREE At this time, little is known about the influence of STAG2 on cellular migration, invasion, proliferation, and cell death, and such studies are required to determine the role of STAG2 in bladder cancer and other malignancies. 29501732 2018
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.570 AlteredExpression disease BEFREE Restoration of STAG2 expression in a mutated bladder cancer model alleviates the dependency on STAG1. 28691904 2017
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.570 Biomarker disease BEFREE Collectively, these data suggest that STAG2 acts as a tumor suppressor gene in bladder cancer and may be a potential therapeutic target in BC. 28627627 2017
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.570 AlteredExpression disease BEFREE STAG2 mRNA in normal bladder cells and bladder tumor cells was evaluated by RT-PCR. 25867412 2015
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.570 GeneticVariation disease BEFREE Frequent inactivating mutations of STAG2 in bladder cancer are associated with low tumour grade and stage and inversely related to chromosomal copy number changes. 24270882 2014
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.570 Biomarker disease CTD_human Whole-genome and whole-exome sequencing of bladder cancer identifies frequent alterations in genes involved in sister chromatid cohesion and segregation. 24121792 2013
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.570 Biomarker disease BEFREE Our findings indicate that STAG2 is a new UBC tumor suppressor acting through mechanisms that are different from its role in preventing aneuploidy. 24121791 2013
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.570 Biomarker disease CTD_human These findings identify STAG2 as one of the most commonly mutated genes in bladder cancer. 24121789 2013
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.570 Biomarker disease CTD_human Our findings indicate that STAG2 is a new UBC tumor suppressor acting through mechanisms that are different from its role in preventing aneuploidy. 24121791 2013
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.570 GeneticVariation disease BEFREE These findings identify STAG2 as one of the most commonly mutated genes in bladder cancer. 24121789 2013
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.570 CausalMutation disease CGI
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.560 Biomarker disease BEFREE At this time, little is known about the influence of STAG2 on cellular migration, invasion, proliferation, and cell death, and such studies are required to determine the role of STAG2 in bladder cancer and other malignancies. 29501732 2018
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.560 Biomarker disease BEFREE Collectively, these data suggest that STAG2 acts as a tumor suppressor gene in bladder cancer and may be a potential therapeutic target in BC. 28627627 2017
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.560 AlteredExpression disease BEFREE Restoration of STAG2 expression in a mutated bladder cancer model alleviates the dependency on STAG1. 28691904 2017
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.560 GeneticVariation disease BEFREE Frequent inactivating mutations of STAG2 in bladder cancer are associated with low tumour grade and stage and inversely related to chromosomal copy number changes. 24270882 2014
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.560 Biomarker disease CTD_human Our findings indicate that STAG2 is a new UBC tumor suppressor acting through mechanisms that are different from its role in preventing aneuploidy. 24121791 2013
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.560 Biomarker disease CTD_human Whole-genome and whole-exome sequencing of bladder cancer identifies frequent alterations in genes involved in sister chromatid cohesion and segregation. 24121792 2013
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.560 Biomarker disease CTD_human These findings identify STAG2 as one of the most commonly mutated genes in bladder cancer. 24121789 2013
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.560 Biomarker disease BEFREE Our findings indicate that STAG2 is a new UBC tumor suppressor acting through mechanisms that are different from its role in preventing aneuploidy. 24121791 2013
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.560 GeneticVariation disease BEFREE These findings identify STAG2 as one of the most commonly mutated genes in bladder cancer. 24121789 2013
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.560 CausalMutation disease CGI
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.420 GeneticVariation disease BEFREE To date, only 10 STAG2 pathogenic variants (four nonsense, four missense, and two frameshift) have been reported in patients with multiple congenital anomalies, ID, and DD. 30765867 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.420 GeneticVariation disease BEFREE De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies. 28296084 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.420 Biomarker disease GENOMICS_ENGLAND Microduplication of chromosome Xq25 encompassing STAG2 gene in a boy with intellectual disability. 25450604 2015
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.420 Biomarker disease HPO