EMD, emerin, 2010

N. diseases: 163; N. variants: 29
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0042568
Disease: Vertebrobasilar Insufficiency
Vertebrobasilar Insufficiency 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
CUI: C0155730
Disease: Nonruptured cerebral aneurysm
Nonruptured cerebral aneurysm 		disease Nervous System Diseases; Cardiovascular Diseases Anatomical Abnormality 2 0.010 None 1.000 1 2016 2016
CUI: C1834653
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 3 6 0.030 None 1.000 3 2001 2009
CUI: C0085611
Disease: Atrial arrhythmia
Atrial arrhythmia 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 3 0.100 None 0
CUI: C4551514
Disease: Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytic Lymphohistiocytosis, Familial, 1 		disease Hemic and Lymphatic Diseases Disease or Syndrome 5 0.010 None 1.000 1 2017 2017
CUI: C1450051
Disease: Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 5 2 0.300 None 0
CUI: C1274795
Disease: Urban Schosser Spohn syndrome
Urban Schosser Spohn syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 6 0.010 None 1.000 1 2019 2019
CUI: C4022628
Disease: Absent muscle fiber emerin
Absent muscle fiber emerin 		phenotype Finding 6 0.100 None 0
CUI: C0750145
Disease: Occlusive vascular disease
Occlusive vascular disease 		disease Disease or Syndrome 7 1 0.010 None 1.000 1 2018 2018
CUI: C2747905
Disease: Destructive thyroiditis
Destructive thyroiditis 		disease Disease or Syndrome 7 0.010 None 1.000 1 2019 2019
CUI: C0232216
Disease: Ventricular escape rhythm
Ventricular escape rhythm 		phenotype Pathologic Function 7 0.100 None 0
CUI: C1839653
Disease: Decreased cervical spine flexion due to contractures of posterior cervical muscles
Decreased cervical spine flexion due to contractures of posterior cervical muscles 		phenotype Finding 7 0.100 None 0
CUI: C0238051
Disease: Cerebral Angiitis
Cerebral Angiitis 		disease Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 8 1 0.010 None 1.000 1 2019 2019
CUI: C0588006
Disease: Mild depression
Mild depression 		disease Mental Disorders Mental or Behavioral Dysfunction 8 0.010 None 1.000 1 2018 2018
CUI: C0028790
Disease: Cerebral artery occlusion
Cerebral artery occlusion 		disease Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality 9 0.010 None 1.000 1 2018 2018
CUI: C0750197
Disease: Sustained ventricular tachycardia
Sustained ventricular tachycardia 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 9 1 0.010 None 1.000 1 2012 2012
CUI: C1866013
Disease: Proximal upper limb amyotrophy
Proximal upper limb amyotrophy 		phenotype Finding 9 0.100 None 0
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 10 24 0.010 None < 0.001 1 1998 1998
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 10 74 0.310 None 1.000 1 2001 2001
CUI: C0428975
Disease: Supraventricular Arrhythmia by ECG Finding
Supraventricular Arrhythmia by ECG Finding 		phenotype Laboratory or Test Result 11 0.100 None 0
CUI: C0017572
Disease: Gingival Recession
Gingival Recession 		disease Stomatognathic Diseases Disease or Syndrome 14 1 0.010 None 1.000 1 2019 2019
CUI: C1839615
Disease: X-linked myopathy with excessive autophagy
X-linked myopathy with excessive autophagy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 14 9 0.010 None 1.000 1 1988 1988
CUI: C1836767
Disease: Proximal lower limb amyotrophy
Proximal lower limb amyotrophy 		phenotype Finding 15 4 0.100 None 0
CUI: C4023180
Disease: Type 1 muscle fiber atrophy
Type 1 muscle fiber atrophy 		disease Disease or Syndrome 16 0.100 None 0
CUI: C4317112
Disease: Generalized Lipodystrophy
Generalized Lipodystrophy 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 18 5 0.010 None < 0.001 1 2013 2013