DES, desmin, 1674

N. diseases: 330; N. variants: 63
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: C1858154
Disease: CARDIOMYOPATHY, DILATED, 1I
CARDIOMYOPATHY, DILATED, 1I 		disease Cardiovascular Diseases Disease or Syndrome 1 3 0.900 None 1.000 8 3 1996 2018
CUI: C1867005
Disease: Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 1 0.700 None 1.000 5 1 2007 2018
CUI: C0334483
Disease: Adult rhabdomyoma
Adult rhabdomyoma 		disease Neoplasms; Musculoskeletal Diseases Neoplastic Process 1 0.010 None < 0.001 1 2018 2018
CUI: C3272426
Disease: Gastric Plexiform Fibromyxoma
Gastric Plexiform Fibromyxoma 		disease Neoplastic Process 1 0.010 None < 0.001 1 2017 2017
CUI: C4023289
Disease: Transitional atrioventricular canal defect
Transitional atrioventricular canal defect 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 1 1 0.100 None 0 1
CUI: C0855057
Disease: Primary leiomyosarcoma
Primary leiomyosarcoma 		disease Neoplasms Neoplastic Process 2 0.010 None 1.000 1 2018 2018
CUI: C0238044
Disease: Concentric hypertrophic cardiomyopathy
Concentric hypertrophic cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 3 0.100 None 0
CUI: C1842161
Disease: Scapuloperoneal weakness
Scapuloperoneal weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 3 0.100 None 0
CUI: C2931072
Disease: Epidermolysa bullosa simplex and limb girdle muscular dystrophy
Epidermolysa bullosa simplex and limb girdle muscular dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 4 11 0.020 None 1.000 2 2002 2016
CUI: C3148763
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 4 0.310 None 1.000 2 2012 2014
CUI: C0264797
Disease: Dilated cardiomyopathy secondary to viral myocarditis
Dilated cardiomyopathy secondary to viral myocarditis 		disease Cardiovascular Diseases Disease or Syndrome 4 0.010 None 1.000 1 2017 2017
CUI: C1321878
Disease: Desmoplastic infantile ganglioglioma
Desmoplastic infantile ganglioglioma 		disease Neoplastic Process 5 0.010 None 1.000 1 2012 2012
CUI: C0030590
Disease: Paroxysmal supraventricular tachycardia
Paroxysmal supraventricular tachycardia 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 5 1 0.100 None 0 1
CUI: C0242404
Disease: Myofibroblastoma
Myofibroblastoma 		disease Neoplasms Neoplastic Process 6 0.010 None 1.000 1 2013 2013
CUI: C0344893
Disease: Right ventricular dilatation
Right ventricular dilatation 		disease Congenital Abnormality 6 1 0.010 None 1.000 1 2015 2015
CUI: C0346200
Disease: Intravenous leiomyomatosis
Intravenous leiomyomatosis 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 6 0.010 None 1.000 1 2018 2018
CUI: C1275959
Disease: Cellular neurothekeoma
Cellular neurothekeoma 		disease Neoplasms Neoplastic Process 6 0.010 None 1.000 1 2019 2019
CUI: C4085370
Disease: Fibromatosis, Palmar
Fibromatosis, Palmar 		disease Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 6 0.010 None 1.000 1 1995 1995
CUI: C0392400
Disease: Diffuse malignant mesothelioma
Diffuse malignant mesothelioma 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 7 0.010 None 1.000 1 2017 2017
CUI: C1708751
Disease: Low grade myofibroblastic sarcoma
Low grade myofibroblastic sarcoma 		disease Neoplastic Process 7 0.010 None 1.000 1 2008 2008
CUI: C3809874
Disease: LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 3
LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 3 		disease Neoplastic Process 7 1 0.010 None 1.000 1 2019 2019
CUI: C4025578
Disease: Late-onset proximal muscle weakness
Late-onset proximal muscle weakness 		phenotype Finding 7 0.100 None 0
CUI: C0342753
Disease: Glycogen storage disease due to acid maltase deficiency, late-onset
Glycogen storage disease due to acid maltase deficiency, late-onset 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 8 0.010 None 1.000 1 2015 2015
CUI: C4025008
Disease: Reduced systolic function
Reduced systolic function 		phenotype Cardiovascular Diseases Finding 8 0.100 None 0
CUI: C0025063
Disease: Mediastinal Neoplasms
Mediastinal Neoplasms 		group Neoplasms; Respiratory Tract Diseases Neoplastic Process 9 0.010 None 1.000 1 2018 2018