AMPH, amphiphysin, 273

N. diseases: 47; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.030 Biomarker group BEFREE To provide a basis for the understanding of anti-amphiphysin autoimmunity, we have cloned cDNAs and determined the primary structure of human amphiphysin. 7757077 1995
CUI: C0751871
Disease: Autoimmune Diseases of the Nervous System
Autoimmune Diseases of the Nervous System 		0.010 Biomarker group BEFREE Autoantibodies against amphiphysin occur in patients afflicted with a rare neurologic autoimmune disease, paraneoplastic Stiff-Man syndrome. 7757077 1995
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 Biomarker group BEFREE BIN1 is structurally related to amphiphysin, a breast cancer-associated autoimmune antigen, and RVS167, a negative regulator of the yeast cell cycle, suggesting roles in malignancy and cell cycle control. 8782822 1996
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 Biomarker group BEFREE BIN1 is structurally related to amphiphysin, a breast cancer-associated autoimmune antigen, and RVS167, a negative regulator of the yeast cell cycle, suggesting roles in malignancy and cell cycle control. 8782822 1996
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.030 AlteredExpression group BEFREE Our study suggests a link between amphiphysin I expression in cancer and amphiphysin I autoimmunity. 9513187 1998
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 Biomarker disease BEFREE We report that amphiphysin I was expressed as two isoforms of 128 and 108 kD in the breast cancer of a patient with anti-amphiphysin I antibodies and paraneoplastic sensory neuronopathy. 9513187 1998
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 Biomarker disease BEFREE We report that amphiphysin I was expressed as two isoforms of 128 and 108 kD in the breast cancer of a patient with anti-amphiphysin I antibodies and paraneoplastic sensory neuronopathy. 9513187 1998
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 Biomarker group BEFREE The enhanced expression of amphiphysin I in some forms of cancer supports the hypothesis that amphiphysin family members may play a role in the biology of cancer cells. 9513187 1998
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 Biomarker group BEFREE The enhanced expression of amphiphysin I in some forms of cancer supports the hypothesis that amphiphysin family members may play a role in the biology of cancer cells. 9513187 1998
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		0.010 Biomarker group BEFREE Decreased synaptic vesicle recycling efficiency and cognitive deficits in amphiphysin 1 knockout mice. 11879655 2002
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.010 Biomarker disease BEFREE Decreased synaptic vesicle recycling efficiency and cognitive deficits in amphiphysin 1 knockout mice. 11879655 2002
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		0.010 Biomarker group LHGDN Antiamphiphysin-positive stiff-person syndrome associated with small cell lung cancer. 16671079 2006
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.010 PosttranslationalModification disease BEFREE Phosphorylation of amphiphysin I by minibrain kinase/dual-specificity tyrosine phosphorylation-regulated kinase, a kinase implicated in Down syndrome. 16733250 2006
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.010 PosttranslationalModification disease BEFREE Phosphorylation of amphiphysin I by minibrain kinase/dual-specificity tyrosine phosphorylation-regulated kinase, a kinase implicated in Down syndrome. 16733250 2006
CUI: C0410204
Disease: Myopathy, Centronuclear, Autosomal Recessive
Myopathy, Centronuclear, Autosomal Recessive 		0.020 GeneticVariation disease BEFREE Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. 17676042 2007
CUI: C3645536
Disease: Autosomal Recessive Centronuclear Myopathy
Autosomal Recessive Centronuclear Myopathy 		0.020 GeneticVariation disease BEFREE Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. 17676042 2007
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		0.010 Biomarker group BEFREE Expression of synaptic-like microvesicle proteins, e.g., Synaptic vesicle protein 2 (SV2), synaptobrevin, synapsin 1, and amphiphysin was demonstrated in a majority of GISTs by immunohistochemistry, western blotting, and quantitative reversetranscriptase PCR. 17914114 2007
CUI: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular 		0.010 Biomarker disease BEFREE Combined Bisulfite Restriction Analysis (COBRA) also established DNA methylation for the previously identified PRC2 targets DCC, DES, GAD2, AQP5, GPR61, GRIA4, GJD2, and AMPH in FL but not in BFH. 19530241 2009
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		0.060 GeneticVariation disease BEFREE Mutations in dynamin 2 and amphiphysin 2 genes lead to autosomal forms of centronuclear myopathy (CNM). 20434914 2010
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		0.060 GeneticVariation disease BEFREE Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies. 20927630 2011
CUI: C0410204
Disease: Myopathy, Centronuclear, Autosomal Recessive
Myopathy, Centronuclear, Autosomal Recessive 		0.020 GeneticVariation disease BEFREE Autosomal recessive centronuclear myopathy (ARCNM) is less characterized and has recently been associated to mutations in BIN1, encoding amphiphysin 2. 21129173 2010
CUI: C3645536
Disease: Autosomal Recessive Centronuclear Myopathy
Autosomal Recessive Centronuclear Myopathy 		0.020 GeneticVariation disease BEFREE Autosomal recessive centronuclear myopathy (ARCNM) is less characterized and has recently been associated to mutations in BIN1, encoding amphiphysin 2. 21129173 2010
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.100 GeneticVariation group GWASDB Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions. 22960999 2012
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.020 Biomarker disease BEFREE The AMPH1 protein reduction was validated in Alzheimer's disease cases. 22975846 2012
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		0.060 Biomarker disease BEFREE Our data demonstrate that the alteration of the muscle-specific function of amphiphysin 2 is a common pathomechanism for centronuclear myopathy, myotonic dystrophy, and IMGD. 23754947 2013