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: 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 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 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 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 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 GeneticVariation disease BEFREE Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies. 20927630 2011
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: 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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
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 Some studies found that AMPH-1 was a dominant autoantigen associated with breast cancer and melanoma. 30143925 2019
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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
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 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
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
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: C0026848
Disease: Myopathy
Myopathy
0.030 GeneticVariation group BEFREE Nucleus positioning is key for intracellular organization, cell differentiation, and organ development and is affected in many diseases, including myopathies due to alteration in amphiphysin-2 (BIN1). 26506308 2015
CUI: C0026848
Disease: Myopathy
Myopathy
0.030 GeneticVariation group BEFREE The most severe form of the disease, X-linked centronuclear myopathy, is due to mutations in the gene encoding myotubularin (MTM1), while mutations in dynamin 2 (DNM2) and amphiphysin 2/BIN1 (AMPH2) cause milder forms of myopathy. 24569368 2014
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
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: 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: C0013146
Disease: Drug abuse
Drug abuse
0.020 Biomarker group BEFREE In addition, SWIP can be used to elucidate the mechanism of action of drugs of abuse such as AMPH. 31009010 2019
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: 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