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: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.020 None 1.000 2 2009 2019
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		disease Neoplasms Neoplastic Process 2528 98 0.020 None 1.000 2 2012 2019
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		disease Nervous System Diseases Disease or Syndrome 320 33 0.020 None 1.000 2 2014 2019
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		disease Neoplasms Neoplastic Process 2527 98 0.020 None 1.000 2 2012 2019
CUI: C1275959
Disease: Cellular neurothekeoma
Cellular neurothekeoma 		disease Neoplasms Neoplastic Process 6 0.010 None 1.000 1 2019 2019
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 420 12 0.010 None 1.000 1 2019 2019
CUI: C1368237
Disease: Solitary Myofibromatosis
Solitary Myofibromatosis 		disease Neoplasms Neoplastic Process 11 0.010 None 1.000 1 2019 2019
CUI: C1839832
Disease: Noncompaction cardiomyopathy
Noncompaction cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 17 5 0.010 None 1.000 1 2019 2019
CUI: C1266121
Disease: Myofibroma (morphologic abnormality)
Myofibroma (morphologic abnormality) 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 13 0.010 None 1.000 1 2019 2019
CUI: C0037315
Disease: Sleep Apnea Syndromes
Sleep Apnea Syndromes 		disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 148 18 0.010 None 1.000 1 2019 2019
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Cardiovascular Diseases Disease or Syndrome 30 22 0.010 None 1.000 1 2019 2019
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 39 45 0.010 None 1.000 1 2019 2019
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: C0877015
Disease: Pelvic Organ Prolapse
Pelvic Organ Prolapse 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 119 49 0.010 None 1.000 1 2019 2019
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2825 188 0.010 None 1.000 1 2019 2019
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2689 322 0.010 None 1.000 1 2019 2019
CUI: C0206645
Disease: Desmoplastic fibroma
Desmoplastic fibroma 		disease Neoplasms Neoplastic Process 10 0.010 None 1.000 1 2019 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.010 None 1.000 1 2019 2019
CUI: C0206658
Disease: Smooth Muscle Tumor
Smooth Muscle Tumor 		disease Neoplasms Neoplastic Process 36 0.010 None 1.000 1 2019 2019
CUI: C0521720
Disease: Corneal fibrosis
Corneal fibrosis 		disease Eye Diseases Disease or Syndrome 17 0.010 None 1.000 1 2019 2019
CUI: C1533847
Disease: Disorder of skeletal muscle
Disorder of skeletal muscle 		group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 29 10 0.100 None 1.000 13 4 1994 2018
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 31 18 0.090 None 0.889 9 1994 2018
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: C0004245
Disease: Atrioventricular Block
Atrioventricular Block 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 63 17 0.160 None 1.000 6 1 2000 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.060 None 1.000 6 1990 2018