AHNAK, AHNAK nucleoprotein, 79026

N. diseases: 60; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.210 Biomarker group RGD This is the first report that AHNAK can be targeted by the immune system in autoimmune disease. 11866458 2002
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.210 Biomarker group BEFREE This is the first report that AHNAK can be targeted by the immune system in autoimmune disease. 11866458 2002
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.010 Biomarker disease BEFREE Immunoreactivity against an in vitro translated human AHNAK fragment was detected in 4.6% (5/109) of patients with rheumatoid arthritis, 29.5% (18/61) of patients with systemic lupus erythematosus (SLE), and 1.2% (2/172) of blood donors. 11866458 2002
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.010 Biomarker disease BEFREE Anti-AHNAK positive SLE patients had a higher frequency of homogeneous antinuclear antibody staining patterns and a lower frequency of recent mucosal ulcerations. 11866458 2002
CUI: C0263454
Disease: Chloracne
Chloracne 		0.300 Biomarker disease CTD_human Microarray analysis of gene expression in peripheral blood mononuclear cells from dioxin-exposed human subjects. 17101203 2007
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.070 Biomarker phenotype BEFREE These data indicate that CT694 is a novel T3S-dependent substrate unique to C. trachomatis, and that its interaction with host proteins such as AHNAK may be important for aspects of invasion or development particular to this species. 19460098 2009
CUI: C4290046
Disease: trachomatis
trachomatis 		0.010 Biomarker disease BEFREE These data indicate that CT694 is a novel T3S-dependent substrate unique to C. trachomatis, and that its interaction with host proteins such as AHNAK may be important for aspects of invasion or development particular to this species. 19460098 2009
CUI: C0027626
Disease: Neoplasm Invasiveness
Neoplasm Invasiveness 		0.300 Biomarker phenotype CTD_human Pseudopodial actin dynamics control epithelial-mesenchymal transition in metastatic cancer cells. 20388789 2010
CUI: C0005893
Disease: Body mass index procedure
Body mass index procedure 		0.100 GeneticVariation phenotype GWASDB Association of FTO variants with BMI and fat mass in the self-contained population of Sorbs in Germany. 19584900 2010
CUI: C0578022
Disease: Finding of body mass index
Finding of body mass index 		0.100 GeneticVariation phenotype GWASDB Association of FTO variants with BMI and fat mass in the self-contained population of Sorbs in Germany. 19584900 2010
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.300 Biomarker disease CTD_human Frequent mutations of genes encoding ubiquitin-mediated proteolysis pathway components in clear cell renal cell carcinoma. 22138691 2011
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.300 Biomarker disease CTD_human Frequent mutations of genes encoding ubiquitin-mediated proteolysis pathway components in clear cell renal cell carcinoma. 22138691 2011
CUI: C1266042
Disease: Chromophobe Renal Cell Carcinoma
Chromophobe Renal Cell Carcinoma 		0.300 Biomarker disease CTD_human Frequent mutations of genes encoding ubiquitin-mediated proteolysis pathway components in clear cell renal cell carcinoma. 22138691 2011
CUI: C1266043
Disease: Sarcomatoid Renal Cell Carcinoma
Sarcomatoid Renal Cell Carcinoma 		0.300 Biomarker disease CTD_human Frequent mutations of genes encoding ubiquitin-mediated proteolysis pathway components in clear cell renal cell carcinoma. 22138691 2011
CUI: C1266044
Disease: Collecting Duct Carcinoma of the Kidney
Collecting Duct Carcinoma of the Kidney 		0.300 Biomarker disease CTD_human Frequent mutations of genes encoding ubiquitin-mediated proteolysis pathway components in clear cell renal cell carcinoma. 22138691 2011
CUI: C1306837
Disease: Papillary Renal Cell Carcinoma
Papillary Renal Cell Carcinoma 		0.300 Biomarker disease CTD_human Frequent mutations of genes encoding ubiquitin-mediated proteolysis pathway components in clear cell renal cell carcinoma. 22138691 2011
CUI: C0004096
Disease: Asthma
Asthma 		0.010 GeneticVariation disease BEFREE These analyses suggested that SNPs in the AHNAK and MS4A2 genes were indirectly associated with asthma. 22432035 2012
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		0.300 Biomarker disease CTD_human Systems level analysis and identification of pathways and networks associated with liver fibrosis. 25380136 2014
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.070 Biomarker phenotype BEFREE Since AHNAK is involved in cell migration and invasion in other metastatic tumor cells, we conducted migration and invasion assays in mesothelioma cell lines. 24253341 2014
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.050 Biomarker phenotype BEFREE These results support further clinical evaluation of the association of AHNAK and metastasis in mesothelioma. 24253341 2014
CUI: C0025500
Disease: Mesothelioma
Mesothelioma 		0.010 Biomarker disease BEFREE Since AHNAK is involved in cell migration and invasion in other metastatic tumor cells, we conducted migration and invasion assays in mesothelioma cell lines. 24253341 2014
CUI: C0334515
Disease: Mesothelioma, biphasic, malignant
Mesothelioma, biphasic, malignant 		0.010 AlteredExpression disease BEFREE Furthermore, we confirmed high AHNAK expression not only in xenografts but also in human mesothelioma specimens including sarcomatoid, epithelioid and biphasic mesothelioma using immunohistochemical staining. 24253341 2014
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 GeneticVariation disease GWASCAT Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3. 26830138 2016
CUI: C0025202
Disease: melanoma
melanoma 		0.010 Biomarker disease BEFREE This is the first report that we are aware of which correlates a loss of AHNAK with melanoma and poor patient outcome. 26672724 2016
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma 		0.010 GeneticVariation disease BEFREE Examination of Gene Expression Omnibus database data sets suggests that downregulation of AHNAK mRNA and mutation of the AHNAK gene are common in metastatic melanoma and correlates to a poor outcome. 26672724 2016