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: 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: C0027651
Disease: Neoplasms
Neoplasms 		0.020 AlteredExpression group BEFREE Amphiphysin 1 (AMPH-1) is a nerve terminals-enriched protein involved in endocytosis, and we observe that its expression is increased in breast cancer tumor in compared with normal breast. 29937937 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 Biomarker group BEFREE AMPH-1 is a tumor suppressor of lung cancer by inhibiting Ras-Raf-MEK-ERK signal pathway. 30143925 2019
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		0.060 Biomarker disease BEFREE Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice. 30894500 2019
CUI: C0752282
Disease: Congenital Structural Myopathy
Congenital Structural Myopathy 		0.010 Biomarker disease BEFREE Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice. 30894500 2019
CUI: C1709353
Disease: Osteofibrous Dysplasia
Osteofibrous Dysplasia 		0.010 AlteredExpression disease BEFREE Amphiphysin 1 (AMPH-1) is involved in endocytosis, and its expression is upregulated in osteosarcoma compared with osteofibrous dysplasia. 31819629 2019
CUI: C0850666
Disease: Infection caused by Helicobacter pylori
Infection caused by Helicobacter pylori 		0.010 PosttranslationalModification disease BEFREE After adjusting for baseline diagnosis and H. pylori infection, methylation levels of AMPH, PCDH10, RSPO2, and ZNF610 had progression coefficients that increased and P values that decreased over 6, 12, and 16 years. 26269563 2015
CUI: C0013146
Disease: Drug abuse
Drug abuse 		0.020 Biomarker group BEFREE Although d-AMPH induces manic-like behavior, the mechanisms underlying these effects can also be related to phenotypes of drug abuse. 30699853 2019
CUI: C0919659
Disease: Oropharyngeal candidiasis
Oropharyngeal candidiasis 		0.010 Biomarker disease BEFREE Analysis of nine severely defective mutants in a mouse model of OPC revealed that the strongest defects were seen for the <i>rvs161</i>Δ and <i>rvs167</i>Δ mutants, which lack amphiphysin proteins needed for endocytosis. 31719181 2019
CUI: C0338430
Disease: Limbic Encephalitis
Limbic Encephalitis 		0.010 Biomarker disease BEFREE Anti-Amphiphysin-associated limbic encephalitis in a 72-year-old patient with aortic angiosarcoma. 30872337 2019
CUI: C1332312
Disease: Aortic Angiosarcoma
Aortic Angiosarcoma 		0.010 Biomarker disease BEFREE Anti-Amphiphysin-associated limbic encephalitis in a 72-year-old patient with aortic angiosarcoma. 30872337 2019
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: 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: 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: 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: 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: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.010 GeneticVariation disease BEFREE Experiments were performed by inducing exocytosis in wild-type (WT) mice, in amphiphysin-I knockout (Amph-I KO) mice, which show impaired endocytosis, or in mice expressing high copy number of mutant human SOD1 with a Gly93Ala substitution (SOD1(G93A)), a model of human amyotrophic lateral sclerosis showing constitutively excessive Glu exocytosis. 25497732 2015
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: 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: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		0.060 GeneticVariation disease BEFREE Here, we focused on amphiphysin 2 (BIN1, also known as bridging integrator-1) and dynamin 2 (DNM2), two ubiquitous proteins implicated in membrane remodeling and mutated in centronuclear myopathies (CNMs). 29130937 2017
CUI: C0026848
Disease: Myopathy
Myopathy 		0.030 Biomarker group BEFREE However, the muscle-specific function of amphiphysin 2 and its pathogenicity in both muscle disorders are not well understood. 23754947 2013