Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.010 AlteredExpression group BEFREE Furthermore, in silico analyses of public transcriptomics databases indicated elevated Apaf-1 expression in several hematologic malignancies, including acute lymphoblastic and myeloid leukemia. 23093495 2013
Carcinoma of urinary bladder, superficial
0.010 AlteredExpression disease BEFREE We examined the expression of anti-apoptotic genes (XIAP and Bcl-2) and apoptotic genes (cytochrome c, caspase-9, Apaf-1) in tissue samples of patients with superficial bladder cancer. 23613234 2013
Precursor Cell Lymphoblastic Leukemia Lymphoma
0.010 AlteredExpression disease BEFREE We also noted variable Apaf-1 expression in a panel of samples from patients with acute lymphoblastic leukemia. 23093495 2013
CUI: C0268647
Disease: Lysinuric Protein Intolerance
Lysinuric Protein Intolerance
0.010 AlteredExpression disease BEFREE Overloading HK-2 with Lysine levels reproducing those observed in urine of patients affected by LPI (10 mM) increased apoptosis (+30%; p < 0.01 vs.C), as well as Bax and Apaf-1 expressions (+30-50% p < 0.05), while downregulated Bcl-2 (-40% p < 0.05). 22403019 2012
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia
0.010 AlteredExpression disease BEFREE Increased expression of APAF-1 in low-risk myelodysplastic syndrome: a possible role in the pathophysiology of myelodysplasia. 20345447 2010
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome
0.010 AlteredExpression disease BEFREE The aim of this study was to characterize the mRNA expression levels of APAF-1 transcripts in low-risk and high-risk MDS and to elucidate whether the expression levels of APAF-1 transcripts are modulated with increased apoptosis in CD34(+) MDS cells undergoing erythroid differentiation. 20345447 2010
CUI: C2347761
Disease: Childhood Myelodysplastic Syndrome
Childhood Myelodysplastic Syndrome
0.010 AlteredExpression disease BEFREE Increased expression of APAF-1 in low-risk myelodysplastic syndrome: a possible role in the pathophysiology of myelodysplasia. 20345447 2010
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
0.010 AlteredExpression group BEFREE Increased expression of APAF-1 in low-risk disease and its positive correlation with the apoptotic rate observed during the erythroblast differentiation of low-risk MDS cells may indicate that the modulation of APAF-1, at the transcriptional level, participates in the pathophysiology of MDS. 20345447 2010
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome
0.010 AlteredExpression disease BEFREE Increased expression of APAF-1 in low-risk myelodysplastic syndrome: a possible role in the pathophysiology of myelodysplasia. 20345447 2010
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.010 PosttranslationalModification disease BEFREE DAP kinase methylation was detected in four (16%) ALL patients. p14 and Apaf-1 methylation was not detected in any of the 32 cases of acute promyelocytic leukaemia (APL), 50 cases of other subtypes of acute myeloid leukaemia (AML), and 25 cases of acute lymphoblastic leukaemia. 18587015 2008
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.010 AlteredExpression group LHGDN Immunohistochemistry for Apaf-1 was performed on the tissue microarray of 38 normal mucosal tissues, 46 adenomatous polyps, 529 colorectal adenocarcinomas, and 76 metastatic tumors. 17882496 2007
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.010 AlteredExpression disease LHGDN To conclude, in this study we have demonstrated mRNA elevation of p53 and apaf1 during CML blast crisis, indicating that genes and proteins involved in cellular apoptosis might be involved in disease progression/response to therapy. 17361096 2007
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.010 GeneticVariation disease BEFREE Apaf1 in chronic myelogenous leukemia (CML) progression: reduced Apaf1 expression is correlated with a H179R p53 mutation during clinical blast crisis. 17361096 2007
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.010 Biomarker group LHGDN ChIP assays reveal that E2F1 binds the Apaf-1 promoter specifically in tumor tissue, suggesting that E2F1 contributes to the expression of Apaf-1 in brain tumors. 18093951 2007
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.010 AlteredExpression group LHGDN Modification of gene products involved in resistance to apoptosis in metastatic colon cancer cells: roles of Fas, Apaf-1, NFkappaB, IAPs, Smac/DIABLO, and AIF. 17603079 2007
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.010 AlteredExpression disease BEFREE The expression of Apaf-1 mRNA in gastric cancer tissue samples was 51%. 17876870 2007
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
0.010 AlteredExpression group LHGDN Rationales for expression and altered expression of apoptotic protease activating factor-1 gene in gastric cancer. 17876870 2007
Transitional cell carcinoma of bladder
0.010 PosttranslationalModification disease BEFREE EZH2 polycomb transcriptional repressor expression correlates with methylation of the APAF-1 gene in superficial transitional cell carcinoma of the bladder. 17541304 2007
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.010 AlteredExpression disease BEFREE The expression of Apaf-1 mRNA in gastric cancer tissue samples was 51%. 17876870 2007
CUI: C1262091
Disease: Lymphocytic infiltration
Lymphocytic infiltration
0.010 Biomarker disease BEFREE Role of APAF-1, E-cadherin and peritumoral lymphocytic infiltration in tumour budding in colorectal cancer. 17516584 2007
CUI: C1739405
Disease: CML progression
CML progression
0.010 GeneticVariation disease BEFREE Apaf1 in chronic myelogenous leukemia (CML) progression: reduced Apaf1 expression is correlated with a H179R p53 mutation during clinical blast crisis. 17361096 2007
CUI: C4049272
Disease: Tumour budding
Tumour budding
0.010 Biomarker disease BEFREE Role of APAF-1, E-cadherin and peritumoral lymphocytic infiltration in tumour budding in colorectal cancer. 17516584 2007
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.010 AlteredExpression group BEFREE The expression of Apaf-1, procaspase-9 and -6 mRNAs was higher in lung adenocarcinomas as compared to squamous cell lung carcinomas but the expression levels of the studied apoptosome pathway-related transcripts in the tumours were independent of tumour's grade and stage. 16231180 2006
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.010 PosttranslationalModification disease LHGDN Methylation of tumour suppressor genes APAF-1 and DAPK-1 and in vitro effects of demethylating agents in bladder and kidney cancer. 17133271 2006
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.010 AlteredExpression disease BEFREE cDNA array analysis showed that cyclin B1, MCM5, MCM7, RAD9, ubiquitin C, CDK6, SKP2, and APAF1 were up-regulated in malignant thyroid neoplasms. 16547620 2006