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: C0741933
Disease: cardiac symptom
cardiac symptom 		phenotype Sign or Symptom 9 2 0.010 None 1.000 1 1 2008 2008
CUI: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
CARDIOMYOPATHY, DILATED, 1S 		disease Cardiovascular Diseases Disease or Syndrome 9 53 0.100 None 0 3
CUI: C0206645
Disease: Desmoplastic fibroma
Desmoplastic fibroma 		disease Neoplasms Neoplastic Process 10 0.010 None 1.000 1 2019 2019
CUI: C0264789
Disease: Familial cardiomyopathy
Familial cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 10 1 0.010 None 1.000 1 1995 1995
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 0.010 None 1.000 1 2007 2007
CUI: C3697716
Disease: Acute flaccid paralysis
Acute flaccid paralysis 		phenotype Sign or Symptom 10 0.010 None 1.000 1 2011 2011
CUI: C3888570
Disease: Degenerative mitral valve disease
Degenerative mitral valve disease 		disease Disease or Syndrome 10 0.010 None 1.000 1 2016 2016
CUI: C1389118
Disease: Peroneal muscle atrophy
Peroneal muscle atrophy 		disease Disease or Syndrome 10 2 0.100 None 0
CUI: C0024214
Disease: Lymphangiectasis
Lymphangiectasis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 11 0.010 None 1.000 1 2007 2007
CUI: C1368237
Disease: Solitary Myofibromatosis
Solitary Myofibromatosis 		disease Neoplasms Neoplastic Process 11 0.010 None 1.000 1 2019 2019
CUI: C0428975
Disease: Supraventricular Arrhythmia by ECG Finding
Supraventricular Arrhythmia by ECG Finding 		phenotype Laboratory or Test Result 11 0.100 None 0
CUI: C0522055
Disease: Electrocardiogram abnormal
Electrocardiogram abnormal 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 11 54 0.100 None 0 1
CUI: C1333500
Disease: Extragastrointestinal Gastrointestinal Stromal Tumor
Extragastrointestinal Gastrointestinal Stromal Tumor 		disease Digestive System Diseases; Neoplasms Neoplastic Process 12 0.010 None 1.000 1 2012 2012
CUI: C1847766
Disease: Shoulder girdle muscle atrophy
Shoulder girdle muscle atrophy 		phenotype Finding 12 1 0.100 None 0
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: C0334361
Disease: Serous surface papillary carcinoma
Serous surface papillary carcinoma 		disease Neoplasms Neoplastic Process 14 0.010 None 1.000 1 2016 2016
CUI: C4022591
Disease: Fatigable weakness of bulbar muscles
Fatigable weakness of bulbar muscles 		phenotype Finding 14 0.100 None 0
CUI: C0334267
Disease: Transitional cell carcinoma in situ
Transitional cell carcinoma in situ 		disease Neoplasms Neoplastic Process 15 0.010 None 1.000 1 2013 2013
CUI: C1710026
Disease: Sclerosing Epithelioid Fibrosarcoma
Sclerosing Epithelioid Fibrosarcoma 		disease Neoplasms Neoplastic Process 16 0.010 None 1.000 1 2002 2002
CUI: C2931230
Disease: Vacuolar myopathy
Vacuolar myopathy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 16 1 0.010 None 1.000 1 2015 2015
CUI: C0521720
Disease: Corneal fibrosis
Corneal fibrosis 		disease Eye Diseases Disease or Syndrome 17 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: C0432284
Disease: Infantile myofibromatosis
Infantile myofibromatosis 		disease Neoplasms Disease or Syndrome 18 10 0.010 None < 0.001 1 1992 1992
CUI: C0752282
Disease: Congenital Structural Myopathy
Congenital Structural Myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 18 1 0.010 None 1.000 1 1994 1994
CUI: C0206648
Disease: Myofibromatosis
Myofibromatosis 		disease Neoplasms Neoplastic Process 19 7 0.010 None < 0.001 1 1992 1992