Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.020 AlteredExpression disease BEFREE A pilot study on relationships of selected molecular factors [erbB-1, erbB-2, erbB-3, and c-myc oncogene average gene copy numbers (AGCN); steroid receptors and pS2 gene expression; tumor cells' DNA values] to the ex vivo chemosensitivity of ovarian cancer in a modified adenosine triphosphate cell viability chemosensitivity assay (ATP-CVA), was performed. 10961689 2000
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		0.020 GeneticVariation disease BEFREE Missense mutations in PS1 and PS2 genes have been found in families that cosegregate with early-onset Alzheimer's disease. 9206974 1997
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 Biomarker phenotype BEFREE These data clearly indicate that the breast-cancer-associated pS2 protein also plays an as yet undetermined role in the tumorigenesis of human colorectal carcinomas. 7505265 1994
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.020 AlteredExpression disease BEFREE pS2 gene expression was investigated in benign and malignant ovary tumors and whenever possible, pS2 expression was also studied in cells collected from cystadenoma fluids. 8078298 1994
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.040 AlteredExpression group BEFREE Expression of pS2 protein and its relation with the Ki-67 proliferative indices and tumor recurrence in superficial bladder carcinomas. 11528193 2001
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.040 Biomarker group BEFREE Otherwise, no overlapping of pS2 protein values was obtained between ER-positive and ER-negative carcinomas within defined unfavorable menopausal - and histologic grade-related expression of pS2 protein subgroups. 11327531 2001
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.040 AlteredExpression group BEFREE This suggests that the pS2 gene expression detected in nonmalignant tissue may be related to early premalignant changes of prostate glands harboring significant carcinomas. 7635445 1995
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.040 AlteredExpression group BEFREE In the present study, the expression of the pS2 gene was analyzed in 111 gynecological carcinomas. 2306733 1990
CUI: C0338445
Disease: Familial Alzheimer's disease of early onset
Familial Alzheimer's disease of early onset 		0.060 GeneticVariation disease BEFREE Early onset familial Alzheimer's disease (FAD) is linked to autosomal dominant mutations in the amyloid precursor protein (APP) and presenilin 1 and 2 (PS1 and PS2) genes. 16923170 2006
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.060 AlteredExpression group BEFREE To investigate the expression and possible role of pS2 protein as a predictor of tumor recurrence in superficial transitional cell carcinoma of the bladder and to determine its relation with tumor stage, grade, size, number, recurrence and proliferative activity. 11528193 2001
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.060 AlteredExpression group BEFREE At completion of the study, half of the animals per treatment group were killed and tumors collected for evaluation of cellular proliferation and estrogen-responsive pS2 gene expression. 11577007 2001
CUI: C0338445
Disease: Familial Alzheimer's disease of early onset
Familial Alzheimer's disease of early onset 		0.060 GeneticVariation disease BEFREE Many cases of early-onset familial Alzheimer's disease (FAD) are caused by mutations in the presenilin 1 (PS1) and PS2 genes. 10025714 1999
CUI: C0338445
Disease: Familial Alzheimer's disease of early onset
Familial Alzheimer's disease of early onset 		0.060 GeneticVariation disease BEFREE Most cases of early onset familial Alzheimer's disease (FAD) involve mutations in presenilins (PS1 and PS2) genes. 10218912 1999
CUI: C0338445
Disease: Familial Alzheimer's disease of early onset
Familial Alzheimer's disease of early onset 		0.060 GeneticVariation disease BEFREE In early-onset familial Alzheimer's disease (AD) pathogenic mutations have been found in the amyloid precursor protein (APP) gene and in the presenilin (PS)-1 and PS-2 genes. 9851443 1998
CUI: C0338445
Disease: Familial Alzheimer's disease of early onset
Familial Alzheimer's disease of early onset 		0.060 GeneticVariation disease BEFREE Eleven early-onset dementia families, all with affected individuals who have either presented clinical symptoms of early onset familial Alzheimer's disease (EOFAD) or have been confirmed to have EOFAD by autopsy, and two early onset cases with biopsy-confirmed AD pathology, were screened for missense mutations in the entire coding region of presenilin-1 (PS-1) and -2 (PS-2) genes. 9172170 1997
CUI: C0338445
Disease: Familial Alzheimer's disease of early onset
Familial Alzheimer's disease of early onset 		0.060 GeneticVariation disease BEFREE Acylphosphatase (AcPase), an enzyme that modulates the activity of Ca(2+)-ATPase by hydrolysing its phosphorylated moiety, has been found to be significantly higher in cultured skin fibroblasts from donors affected by early onset familial Alzheimer's disease (EOFAD) with PS-1 and PS-2 gene mutations. 8805118 1996
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.060 Biomarker group BEFREE The expression of the pS2 gene, pS2 protein assays in tumor cytosols and more recently pS2 detection by immunocytochemistry, have been described in several series of breast cancers. 8240704 1993
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.060 AlteredExpression group BEFREE In situ hybridization to some of the p27-overexpressing tumors showed that the p27 RNA is localized in cancer cells and sometimes also in fibroblastic cells of tumor stroma. p27 RNA levels in the tumors did not correlate with the presence of estrogen receptor or with the expression of the estrogen-induced pS2 gene. 8358738 1993
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.060 GeneticVariation group BEFREE The 5' flanking region of the pS2 gene contains a complex enhancer region responsive to oestrogens, epidermal growth factor, a tumour promoter (TPA), the c-Ha-ras oncoprotein and the c-jun protein. 2498085 1989
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.060 AlteredExpression group BEFREE Using these assays we show that determination of pS2 gene expression allows the definition of subclasses of estrogen-receptor-containing breast cancers that may be used to more precisely identify estrogen-dependent tumors. 3321071 1987
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		0.080 GeneticVariation disease BEFREE Early onset familial Alzheimer's disease (FAD) is linked to autosomal dominant mutations in the amyloid precursor protein (APP) and presenilin 1 and 2 (PS1 and PS2) genes. 16923170 2006
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		0.080 Biomarker disease BEFREE Mutations in the genes that encode the presenilin 1 and 2 (PS1 and PS2) proteins cause the majority of familial Alzheimer's disease (FAD). 11731004 2001
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		0.080 AlteredExpression disease BEFREE These results suggest that the specific downregulation of PS2 gene expression is an early event in sporadic late-onset AD. 10891593 2000
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		0.080 GeneticVariation disease BEFREE Most cases of early onset familial Alzheimer's disease (FAD) involve mutations in presenilins (PS1 and PS2) genes. 10218912 1999
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		0.080 GeneticVariation disease BEFREE Many cases of early-onset familial Alzheimer's disease (FAD) are caused by mutations in the presenilin 1 (PS1) and PS2 genes. 10025714 1999