John Scott

Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, also known as glycogen storage disease type iv, is related to glycogen storage disease iv and myopathy, and has symptoms including hepatosplenomegaly and muscle weakness. An important gene associated with Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency ...

Sapho Syndrome, also known as acquired hyperostosis syndrome, is related to spondylarthropathy and synovitis. An important gene associated with Sapho Syndrome is PSTPIP2 (Proline-Serine-Threonine Phosphatase Interacting Protein 2), and among its related pathways/superpathways are Innate Immune System and Cytokine Signaling in Immune system. ...

Neurodegeneration with Brain Iron Accumulation 5, also known as beta-propeller protein-associated neurodegeneration, is related to parkinsonism and neurodegeneration with brain iron accumulation 6, and has symptoms including muscle rigidity, paraparesis, spastic and tremor. An important gene associated with Neurodegeneration with Brain Iron ...

Tangier Disease, also known as analphalipoproteinemia, is related to hypoalphalipoproteinemia, primary, 1 and hypoalphalipoproteinemia, primary, 2, and has symptoms including dry skin An important gene associated with Tangier Disease is ABCA1 (ATP Binding Cassette Subfamily A Member 1), and among its related pathways/superpathways are ...

Analbuminemia, also known as analba, is related to lipid metabolism disorder and thalassemia. An important gene associated with Analbuminemia is ALB (Albumin), and among its related pathways/superpathways is FOXA2 and FOXA3 transcription factor networks. The drugs Esomeprazole and Norepinephrine have been mentioned in the context of this ...