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: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE A diverse range of tumor types were found to harbor deletions or inactivating mutations of STAG2, a gene encoding a subunit of the cohesin complex, which regulates the separation of sister chromatids during cell division. 21852505 2011
CUI: C0036572
Disease: Seizures
Seizures 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0542571
Disease: Facial edema
Facial edema 		0.100 GeneticVariation disease CLINVAR
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		0.100 GeneticVariation disease CLINVAR
CUI: C1844662
Disease: Unexplained fevers
Unexplained fevers 		0.100 GeneticVariation phenotype CLINVAR
CUI: C1854885
Disease: Cerebral dysmyelination
Cerebral dysmyelination 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.090 GeneticVariation group BEFREE Recent data have identified STAG2, a core subunit of the multifunctional cohesin complex, as a highly recurrently mutated gene in several types of cancer. 24356817 2014
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.090 GeneticVariation group BEFREE Genomic analyses have identified that the cohesin subunit STAG2 is frequently inactivated by mutations in cancer. 30975996 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.090 GeneticVariation group BEFREE The distribution of STAG2 mutations in cancer was determined through the COSMIC database; we also generated a STAG2 truncating mutation in OS cell line U2OS cells to mimic a common mutation in OS. 31157248 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.080 GeneticVariation group BEFREE Genomic analyses have identified that the cohesin subunit STAG2 is frequently inactivated by mutations in cancer. 30975996 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.080 GeneticVariation group BEFREE The distribution of STAG2 mutations in cancer was determined through the COSMIC database; we also generated a STAG2 truncating mutation in OS cell line U2OS cells to mimic a common mutation in OS. 31157248 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.080 GeneticVariation group BEFREE Recent data have identified STAG2, a core subunit of the multifunctional cohesin complex, as a highly recurrently mutated gene in several types of cancer. 24356817 2014
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.050 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: C0017636
Disease: Glioblastoma
Glioblastoma 		0.050 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: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.050 GeneticVariation phenotype BEFREE However, the reason STAG2 mutations are selected during tumorigenesis and strategies for therapeutically targeting mutant cancer cells are largely unknown. 30975996 2019
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.050 GeneticVariation phenotype BEFREE However, the mechanism of STAG2 mutations promoting tumorigenesis is still unclear. 31157248 2019
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.040 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: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.040 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: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.040 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: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.040 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: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.030 GeneticVariation disease BEFREE STAG2 is the most commonly mutated cohesin member in AML as well as solid tumors. 29278534 2018
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.020 GeneticVariation phenotype 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: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.020 GeneticVariation phenotype BEFREE De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies. 28296084 2017
CUI: C2145472
Disease: Urothelial Carcinoma
Urothelial Carcinoma 		0.020 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