APCS, amyloid P component, serum, 325

N. diseases: 141; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.330 GeneticVariation disease UNIPROT
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.100 GeneticVariation disease BEFREE A DNA polymorphic site, 5' to the serum amyloid P component gene, has been found to be significantly associated with amyloidosis in juvenile arthritic patients. 2443773 1987
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		0.020 AlteredExpression phenotype BEFREE Recent progress in the management of diabetes in pregnancy, characterized by more rigorous metabolic control, has decreased the risk of hyaline membrane disease for the infant of the diabetic mother and is associated with normal levels of SAP-35 in amniotic fluid. 3048286 1988
CUI: C0020192
Disease: Hyaline Membrane Disease
Hyaline Membrane Disease 		0.010 AlteredExpression disease BEFREE Recent progress in the management of diabetes in pregnancy, characterized by more rigorous metabolic control, has decreased the risk of hyaline membrane disease for the infant of the diabetic mother and is associated with normal levels of SAP-35 in amniotic fluid. 3048286 1988
CUI: C0032969
Disease: Pregnancy in Diabetics
Pregnancy in Diabetics 		0.010 AlteredExpression phenotype BEFREE Recent progress in the management of diabetes in pregnancy, characterized by more rigorous metabolic control, has decreased the risk of hyaline membrane disease for the infant of the diabetic mother and is associated with normal levels of SAP-35 in amniotic fluid. 3048286 1988
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.010 Biomarker disease BEFREE Two recent studies have suggested the involvement of serum amyloid A (SAA) and P (APCS) genes in familial Mediterranean fever (MEF). 1981994 1990
CUI: C0268380
Disease: Systemic amyloidosis
Systemic amyloidosis 		0.030 Biomarker disease BEFREE Role of serum amyloid P component for systemic amyloidosis in transgenic mice carrying human mutant transthyretin gene. 1937069 1991
CUI: C0281479
Disease: Primary Systemic Amyloidosis
Primary Systemic Amyloidosis 		0.030 Biomarker disease BEFREE Role of serum amyloid P component for systemic amyloidosis in transgenic mice carrying human mutant transthyretin gene. 1937069 1991
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 GeneticVariation disease BEFREE The role of serum amyloid P component (SAP) for systemic amyloidosis in a transgenic mouse model for an autosomal dominant disease, familial amyloidotic polyneuropathy (FAP), was examined. 1937069 1991
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.100 Biomarker disease BEFREE This first demonstration of the participation of SAP in pathogenesis of amyloidosis in vivo confirms that inhibition of SAP binding to amyloid fibrils is an attractive therapeutic target in a range of serious human diseases. 9256275 1997
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.100 Biomarker disease BEFREE Serum amyloid P component enhances induction of murine amyloidosis. 9389795 1997
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.070 Biomarker disease BEFREE Thus, SAP enhances the induction of murine amyloidosis and may play an important role in the pathogenesis of human amyloidoses, including Alzheimer's disease. 9389795 1997
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		0.010 Biomarker group BEFREE The tissue amyloid deposits that characterize systemic amyloidosis, Alzheimer's disease and the transmissible spongiform encephalopathies always contain serum amyloid P component (SAP) bound to the amyloid fibrils. 9256275 1997
CUI: C0549463
Disease: X-Linked Lymphoproliferative Disorder
X-Linked Lymphoproliferative Disorder 		0.100 AlteredExpression disease BEFREE The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM. 9774102 1998
CUI: C0006849
Disease: Oral candidiasis
Oral candidiasis 		0.040 AlteredExpression disease BEFREE Our results suggest that the pathogenesis of experimental and clinical oral candidosis is associated with the differential and temporal regulation of SAP gene expression. 9720876 1998
CUI: C0221014
Disease: Reactive systemic amyloidosis
Reactive systemic amyloidosis 		0.020 GeneticVariation disease BEFREE Pyrin/marenostrin genotypes were determined, and AA amyloidosis was sought using serum amyloid P component scintigraphy. 10024914 1998
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis 		0.020 GeneticVariation disease BEFREE Pyrin/marenostrin genotypes were determined, and AA amyloidosis was sought using serum amyloid P component scintigraphy. 10024914 1998
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor 		0.010 Biomarker phenotype BEFREE Serum amyloid P component scintigraphy showed amyloid regression in the domino donor and to date has not identified any amyloid deposits in the recipient, who also remains free of tumor recurrence. 9645810 1998
CUI: C0549463
Disease: X-Linked Lymphoproliferative Disorder
X-Linked Lymphoproliferative Disorder 		0.100 GeneticVariation disease BEFREE A phosphopeptide library screen and analysis of mutations identified in XLP patients confirm that these extended interactions are required for SAP function. 10549287 1999
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.050 GeneticVariation group BEFREE Here we show that mice with targeted deletion of the SAP gene spontaneously develop antinuclear autoimmunity and severe glomerulonephritis, a phenotype resembling human systemic lupus erythematosus, a serious autoimmune disease. 10371509 1999
CUI: C0006849
Disease: Oral candidiasis
Oral candidiasis 		0.040 GeneticVariation disease BEFREE A differential expression of individual SAP genes has been shown previously in a model of oral candidosis based on reconstituted human epithelium (RHE), and in the oral cavity of patients. 10540295 1999
CUI: C0006849
Disease: Oral candidiasis
Oral candidiasis 		0.040 AlteredExpression disease BEFREE All seven SAP genes were simultaneously expressed in some patients with oral candidiasis. 10225911 1999
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.040 AlteredExpression group BEFREE No Ptx2 expression could be detected in corticotroph tumors. 10372733 1999
CUI: C2936349
Disease: Plaque, Amyloid
Plaque, Amyloid 		0.040 Biomarker disease BEFREE Serum amyloid P component (SAP), a highly conserved plasma protein named for its universal presence in amyloid deposits, is the single normal circulating protein that shows specific calcium-dependent binding to DNA and chromatin in physiological conditions. 10371509 1999
CUI: C0017658
Disease: Glomerulonephritis
Glomerulonephritis 		0.020 GeneticVariation disease BEFREE Here we show that mice with targeted deletion of the SAP gene spontaneously develop antinuclear autoimmunity and severe glomerulonephritis, a phenotype resembling human systemic lupus erythematosus, a serious autoimmune disease. 10371509 1999