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 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 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 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 GeneticVariation disease BEFREE These findings identify STAG2 as one of the most commonly mutated genes in bladder cancer. 24121789 2013
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 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: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.360 GeneticVariation disease BEFREE These findings identify STAG2 as one of the most commonly mutated genes in bladder cancer. 24121789 2013
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.360 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: C0553580
Disease: Ewings sarcoma
Ewings sarcoma 		0.350 GeneticVariation disease BEFREE STAG2 is recurrently, mutated in Ewing's Sarcoma, bladder cancer, and glioblastoma, and is one of only ten genes known to be recurrently mutated in over four distinct tissue types of human cancer RECENT FINDINGS: The cohesin complex, a multiprotein ring, is canonically known to align and stabilize replicated chromosomes prior to cell division. 29278534 2018
CUI: C0553580
Disease: Ewings sarcoma
Ewings sarcoma 		0.350 GeneticVariation disease BEFREE Genomic landscape of Ewing sarcoma defines an aggressive subtype with co-association of STAG2 and TP53 mutations. 25223734 2014
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.340 GeneticVariation disease BEFREE We also observed more 53BP1 foci in STAG2-mutated glioblastoma cells, suggesting that these cells have defects in DNA repair. 24356817 2014
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.340 GeneticVariation disease BEFREE STAG2 encodes a subunit of the cohesion complex that participates in mitotic chromatid separation and was recently found to show low expression and inactivating mutations in Ewing's sarcoma, melanoma and glioblastoma.In the childhood tumor neuroblastoma (NB) segmental chromosomal alterations are associated with poor prognosis whereas tumors displaying whole chromosome gains and losses have a much better prognosis. 24088605 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.330 GeneticVariation group BEFREE Microduplication of chromosome Xq25 encompassing STAG2 gene in a boy with intellectual disability. 25450604 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.330 GeneticVariation group BEFREE Xq25 duplications encompassing GRIA3 and STAG2 genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance. 23637084 2013
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell 		0.320 GeneticVariation disease BEFREE The mutational landscape of urothelial carcinoma, including specific mutations in pathways and driver genes, such as FGFR3, ERBB2, PIK3CA, TP53, and STAG2, affects tumour aggressiveness and response to therapy. 28169993 2017
CUI: C0023418
Disease: leukemia
leukemia 		0.310 GeneticVariation disease BEFREE A tumor suppressor protein, stromal antigen 2 (STAG2), has recurrent mutations or loss of expression in many tumors including in bladder cancer, osteosarcoma (OS), and leukemia. 31157248 2019
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.310 GeneticVariation group BEFREE Cohesin defects were associated with poor overall survival (27.2 vs 40 months; P = .023), especially in STAG2 mutant MDS patients surviving >12 months (median survival 35 vs 50 months; P = .017). 25006131 2014
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.110 GeneticVariation disease BEFREE We now present the case of a 4-year-old male with developmental delay, failure to thrive, short stature, and polydactyly with a likely pathogenic STAG2 de novo missense hemizygous variant, c.3027A>T, p.Lys1009Asn. 30447054 2019
CUI: C0014038
Disease: Encephalitis
Encephalitis 		0.100 GeneticVariation disease CLINVAR
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0023530
Disease: Leukopenia
Leukopenia 		0.100 GeneticVariation disease CLINVAR
CUI: C0025289
Disease: Meningitis
Meningitis 		0.100 GeneticVariation disease CLINVAR
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE Mutations in the STAG2 gene are present in ∼20% of tumors from different tissues of origin. 25074805 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE As the genetic contribution to aneuploidy is unknown in NB, we investigated the presence of STAG2 mutations through sequence analysis of all 33 coding exons in 37 primary NB tumors. 24088605 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE Using a combination of whole genome sequencing and targeted sequencing approaches, we discover that EFT has a very low mutational burden (0.15 mutations/Mb) but frequent deleterious mutations in the cohesin complex subunit STAG2 (21.5% tumors, 44.4% cell lines), homozygous deletion of CDKN2A (13.8% and 50%) and mutations of TP53 (6.2% and 71.9%). 25010205 2014