Gene Dossiers

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Gene dossier Disorders Genes
Facioscapulohumeral Muscular Dystrophy 2

Bristol RGC - 2013

  • Facioscapulohumeral Muscular Dystrophy 2
    • Facioscapulohumeral Muscular Dystrophy 2, Digenic
    • FSHD2, Digenic
    • Muscular Dystrophy, Facioscapulohumeral, Type 1B
    • Muscular Dystrophy, Facioscapulohumeral, Type 2
  • structural maintenance of chromosomes flexible hinge domain containing 1
    • SMC hinge domain-containing protein 1
    • structural maintenance of chromosomes flexible hinge domain-containing protein 1
Familial Cylindromatosis, Trichoepitheliomas and Spiradenoma

Newcastle RGC - 2013

  • Cylindromatosis, Familial
    • 'Turban Tumor' Syndrome
    • Ancell-Spiegler Cylindromas
    • Cylindromas, Dermal Eccrine
  • CYLD lysine 63 deubiquitinase
    • CYLD gene
    • cylindromatosis (turban tumor syndrome)
    • ubiquitin specific peptidase like 2
Familial Cylindromatosis, Trichoepitheliomas and Spiradenoma

Newcastle RGC - 2013

  • Brooke-Spiegler Syndrome
    • Spiegler-Brooke Syndrome
  • CYLD lysine 63 deubiquitinase
    • CYLD gene
    • cylindromatosis (turban tumor syndrome)
    • ubiquitin specific peptidase like 2
Familial Cylindromatosis, Trichoepitheliomas and Spiradenoma

Newcastle RGC - 2013

  • Trichoepithelioma, Multiple Familial, 1
    • Brooke-Fordyce Trichoepitheliomas
    • Epithelioma Adenoides Cysticum Of Brooke
    • Epithelioma, Hereditary Multiple Benign Cystic
  • CYLD lysine 63 deubiquitinase
    • CYLD gene
    • cylindromatosis (turban tumor syndrome)
    • ubiquitin specific peptidase like 2
Familial Hypercholesterolemia

London North East RGC GOSH - 2008

  • Hypercholesterolemia, Autosomal Dominant, 3
    • Hypercholesterolaemia, Autosomal Dominant, 3
  • Hypercholesterolemia, Autosomal Dominant, Type B
    • Apolipoprotein B-100, Familial Defective
    • Apolipoprotein B-100, Familial Ligand-Defective
    • Hypercholesterolaemia, Autosomal Dominant, Type B
    • Hypercholesterolemia, Familial, Due To Ligand-Defective Apolipoprotein B
  • Hypercholesterolemia, Familial
    • Hyper-Low-Density-Lipoproteinemia
    • Hypercholesterolaemia, Familial
    • Hypercholesterolemia, Autosomal Dominant
    • Hyperlipoproteinemia, Type II
    • Hyperlipoproteinemia, Type IIa
    • Ldl Receptor Disorder
  • apolipoprotein B
    • acanthocytosis with hypobetalipoproteinemia, included
    • AG lipoprotein types, included
    • apolipoprotein B (including AG (x) antigen)
    • apolipoprotein B allotypes, included
    • hypobetalipoproteinemia, familial, 1, included
    • hypobetalipoproteinemia, familial, included
    • hypobetalipoproteinemia, normotriglyceridemic,included
  • low density lipoprotein receptor
    • familial hypercholesterolemia
    • low density lipoprotein receptor
  • proprotein convertase subtilisin/kexin type 9
    • hypercholesterolemia, autosomal dominant 3
Familial Paroxysmal Kinesigenic Dyskinesia and Benign Familial Infantile convulsions With or Without Choreoathetosis

Bristol RGC - 2013

Familial Paroxysmal Kinesigenic Dyskinesia and Benign Familial Infantile Convulsions with or without Choreoathetosis

Bristol RGC - 2013

  • Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
    • ICCA Syndrome Paroxysmal Kinesigenic Dyskinesia With Infantile Convulsions
    • Infantile Convulsions And Paroxysmal Choreoathetosis, Familial
  • proline-rich transmembrane protein 2
Familial Paroxysmal Kinesigenic Dyskinesia and Benign Familial Infantile Convulsions with or without Choreoathetosis

Bristol RGC - 2013

  • Seizures, Benign Familial Infantile, 2
    • Convulsions, Benign Familial Infantile, 2
  • proline-rich transmembrane protein 2
Familial Paroxysmal Kinesigenic Dyskinesia and Benign Familial Infantile Convulsions with or without Choreoathetosis

Bristol RGC - 2013

  • Episodic Kinesigenic Dyskinesia 1
    • Dystonia 10
    • Dystonia, Familial Paroxysmal
    • Paroxysmal Kinesigenic Choreoathetosis
    • Paroxysmal Kinesigenic Dyskinesia
  • proline-rich transmembrane protein 2
Familial Thoracic Aortic Aneurysm and Dissection (ACTA2 and MYH11)

Salisbury RGC - 2009

  • Aortic Aneurysm, Familial Thoracic 4
    • Aortic Aneurysm/Aortic Dissection and Patent Ductus Arteriosus
  • Aortic Aneurysm, Familial Thoracic 6
    • Familial Thoracic Aortic Aneurysm With Livedo Reticularis And Iris Flocculi
  • actin, alpha 2, smooth muscle, aorta
    • actin, alpha, smooth muscle, aortic
    • actin, vascular smooth muscle
  • myosin heavy chain 11
    • myosin, heavy chain 11, smooth muscle
    • myosin, smooth muscle, heavy chain 11
    • smooth muscle myosin heavy chain
  • transforming growth factor, beta receptor 1
    • activin a receptor type II-like kinase, 53kda
  • transforming growth factor, beta receptor 2
    • colorectal cancer, hereditary nonpolyposis type 6
    • transforming growth factor, beta receptor II (70-80kd)

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