Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.200 Biomarker disease MGD
CUI: C0015393
Disease: Eye Abnormalities
Eye Abnormalities 		0.300 Biomarker group CTD_human Apaf1 (CED-4 homolog) regulates programmed cell death in mammalian development. 9753320 1998
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities 		0.300 Biomarker group CTD_human Apaf1 (CED-4 homolog) regulates programmed cell death in mammalian development. 9753320 1998
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.300 Biomarker group CTD_human Apaf1 (CED-4 homolog) regulates programmed cell death in mammalian development. 9753320 1998
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.300 Biomarker group CTD_human Apaf1-deficient mice exhibited reduced apoptosis in the brain and striking craniofacial abnormalities with hyperproliferation of neuronal cells. 9753321 1998
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE These studies did not disclose the expected tumor related alterations but led instead to the identification of three novel forms of Apaf-1. 10441496 1999
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.030 Biomarker group BEFREE Therefore, cDNAs coding for Apaf-1 were examined in six lymphoma derived cell lines, in three non-lymphoid tumor cell lines, as well as in peripheral blood lymphocytes and in tissue from heart, kidney, and liver by RT-PCR. 10441496 1999
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		0.020 Biomarker disease BEFREE Therefore, cDNAs coding for Apaf-1 were examined in six lymphoma derived cell lines, in three non-lymphoid tumor cell lines, as well as in peripheral blood lymphocytes and in tissue from heart, kidney, and liver by RT-PCR. 10441496 1999
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma 		0.020 Biomarker disease BEFREE Therefore, cDNAs coding for Apaf-1 were examined in six lymphoma derived cell lines, in three non-lymphoid tumor cell lines, as well as in peripheral blood lymphocytes and in tissue from heart, kidney, and liver by RT-PCR. 10441496 1999
CUI: C0205851
Disease: Germ cell tumor
Germ cell tumor 		0.010 GeneticVariation disease BEFREE Genetic analysis of the APAF1 gene in male germ cell tumors. 10862031 2000
CUI: C0220620
Disease: Gastrointestinal Carcinoid Tumor
Gastrointestinal Carcinoid Tumor 		0.010 AlteredExpression disease BEFREE RT-PCR and Western blot analysis showed APAF1 gene expression at detectable levels in all GCT cell lines analyzed. 10862031 2000
CUI: C0025202
Disease: melanoma
melanoma 		0.100 Biomarker disease BEFREE Inactivation of the apoptosis effector Apaf-1 in malignant melanoma. 11196646 2001
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE Apaf-1 loss may contribute to the low frequency of p53 mutations observed in this highly chemoresistant tumour type. 11196646 2001
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 AlteredExpression group BEFREE Expression of Apaf-1 and caspase-9 in tumors may be an important determinant of the therapeutic effect of irradiation in cancer treatment. 11410874 2001
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.020 AlteredExpression disease BEFREE These data suggest that regulation of APAF-1 activity may be important for apoptosis regulation in some ovarian cancers. 11429402 2001
CUI: C0023418
Disease: leukemia
leukemia 		0.040 Biomarker disease BEFREE Apaf-1 deficiency may constitute a significant mode of resistance to apoptosis in human leukemia. 11435311 2001
CUI: C0033626
Disease: Protein Deficiency
Protein Deficiency 		0.020 Biomarker disease BEFREE Apaf-1 protein deficiency confers resistance to cytochrome c-dependent apoptosis in human leukemic cells. 11435311 2001
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.010 Biomarker disease BEFREE Apaf-1 deficiency may constitute a significant mode of resistance to apoptosis in human leukemia. 11435311 2001
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 GeneticVariation group BEFREE These findings are strongly suggestive of the fog mutation being a hypomorphic Apaf-1 defect and implicate neural progenitor cell death in the pathogenesis of spina bifida-a common human congenital malformation. 11504943 2001
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.010 Biomarker disease BEFREE These findings are strongly suggestive of the fog mutation being a hypomorphic Apaf-1 defect and implicate neural progenitor cell death in the pathogenesis of spina bifida-a common human congenital malformation. 11504943 2001
CUI: C1705254
Disease: Neonatal Deformity
Neonatal Deformity 		0.010 GeneticVariation disease BEFREE These findings are strongly suggestive of the fog mutation being a hypomorphic Apaf-1 defect and implicate neural progenitor cell death in the pathogenesis of spina bifida-a common human congenital malformation. 11504943 2001
CUI: C0025202
Disease: melanoma
melanoma 		0.100 PosttranslationalModification disease BEFREE Subsequently others have also shown that caspase-8 is silenced by methylation in neuroblastoma and peripheral neural ectodermal tumors, and that the caspase-9 regulator Apaf-1 is silenced by methylation in melanoma cell lines and patient samples. 11511973 2001
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.030 Biomarker disease BEFREE These results indicate that delivery of Apaf-1-DN by using an AAV vector system can prevent nigrostriatal degeneration in MPTP mice, suggesting that it could be a promising therapeutic strategy for patients with Parkinson's disease. 11535810 2001
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.070 Biomarker group BEFREE This review has a double aim: the analysis of the alternatives taken by the embryo to bring into the suicidal program different cells at different stages, and the relevance of APAF1 in the onset and progression of cancer. 11706994 2001
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.060 Biomarker group BEFREE This review has a double aim: the analysis of the alternatives taken by the embryo to bring into the suicidal program different cells at different stages, and the relevance of APAF1 in the onset and progression of cancer. 11706994 2001