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: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.010 GeneticVariation disease BEFREE The bridging integrator 1 (BIN1) gene, also known as amphiphysin 2, has recently been identified as the most important risk locus for late onset Alzheimer's disease (LOAD), after apolipoprotein E (APOE). 23871436 2013
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: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.020 GeneticVariation disease BEFREE In a subsequent promoter analysis, we found the single nucleotide polymorphism rs744373 C-allele to be associated with high mRNA levels of bridging integrator 1 (BIN1)/Amphiphysin 2, i.e. a major component of the endocytotic machinery and located in a crucial genetic AD risk locus. 26631617 2016
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: 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: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.030 Biomarker disease BEFREE Initially available as racemic (dl)-AMP, this drug was later supplanted by enantiopure (d)-AMPH or enantioenriched (75:25 dl)-AMP formulations; although racemic AMP returned as an approved drug to treat ADHD in 2014. 28910145 2017
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.030 Biomarker disease BEFREE To determine the efficacy and safety of amphetamine extended-release oral suspension (AMPH EROS) in the treatment of attention-deficit/hyperactivity disorder (ADHD) in a dose-optimized, randomized, double-blind, parallel-group study. 29211967 2018
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.030 Biomarker disease BEFREE To determine whether amphetamine extended-release oral suspension (AMPH EROS) has an onset of effect at 30 minutes postdose in children with attention-deficit/hyperactivity disorder (ADHD). 30575407 2019
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.030 Biomarker group BEFREE The neuropathies in isolated amphiphysin-IgG autoimmunity included polyradiculoneuropathy (62%), diffuse sensory neuronopathy (35%), and facial neuropathy with gastroparesis (3%). 31624089 2019
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: 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: 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: 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: 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: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.010 Biomarker disease BEFREE Together, vulnerability to mania-like behavior following d-AMPH challenge and extensive neurotrophic alterations, suggest amphetamine-induced behavioral sensitization is a good model of BD pathophysiology. 30699853 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 Biomarker disease BEFREE In summary, our results identified the anti-oncogenic function of AMPH-1 in breast cancer <i>in vitro</i> and <i>in vivo</i>. 29937937 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 Biomarker disease BEFREE Some studies found that AMPH-1 was a dominant autoantigen associated with breast cancer and melanoma. 30143925 2019
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: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 Biomarker disease BEFREE In summary, our results identified the anti-oncogenic function of AMPH-1 in lung cancer in vitro and in vivo. 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: 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
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		0.060 Biomarker disease BEFREE Our results support a role for N-WASP in amphiphysin-2-dependent nuclear positioning and triad organization and in CNM and myotonic dystrophy pathophysiology. 25262827 2014
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 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: 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