EMD, emerin, 2010

N. diseases: 8; N. variants: 25
Source: CLINVAR ×
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: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 33 0.800 None 1.000 11 20 1994 2019
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group Cardiovascular Diseases Disease or Syndrome 45 172 0.500 None 0.909 0 1 1998 2019
CUI: C0026848
Disease: Myopathy
Myopathy 		group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 37 63 0.130 None 1.000 0 1 2008 2019
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		group Nervous System Diseases Disease or Syndrome 11 38 0.120 None 1.000 10 3 1975 2007
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		disease Acquired Abnormality 10 14 0.100 None 1.000 2 2 1995 1999
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		phenotype Finding 3 3 0.100 None 1.000 1 1 1999 1999
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		disease Musculoskeletal Diseases Finding 26 32 0.100 None 0 1
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome 89 118 0.100 None 0 1