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: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1114 485 0.030 None 1.000 3 2008 2014
CUI: C0002793
Disease: Anaplasia
Anaplasia 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 538 7 0.030 None 1.000 3 2013 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.320 None 1.000 3 1992 2014
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2084 288 0.030 None 1.000 3 2004 2013
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 560 635 0.030 None 1.000 3 2010 2018
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 0.030 None 0.667 3 2015 2018
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 40 13 0.030 None 1.000 3 1994 2019
CUI: C0281508
Disease: Desmoplastic Small Round Cell Tumor
Desmoplastic Small Round Cell Tumor 		disease Neoplasms Neoplastic Process 43 0.030 None 1.000 3 2014 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.320 None 1.000 3 1992 2014
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 233 90 0.030 None 1.000 3 2010 2018
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2969 688 0.020 None 1.000 2 2006 2008
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.020 None 1.000 2 2009 2014
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		disease Neoplasms Neoplastic Process 3177 281 0.020 None 1.000 2 2012 2019
CUI: C0018794
Disease: Heart Block
Heart Block 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 58 7 0.020 None 1.000 2 1 2003 2008
CUI: C0023269
Disease: leiomyosarcoma
leiomyosarcoma 		disease Neoplasms Neoplastic Process 213 5 0.020 None 1.000 2 2004 2011
CUI: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 3087 515 0.020 None 1.000 2 2017 2018
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 337 40 0.020 None 1.000 2 2010 2018
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: C0028945
Disease: oligodendroglioma
oligodendroglioma 		disease Neoplasms Neoplastic Process 282 21 0.020 None 1.000 2 1995 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.020 None 1.000 2 2009 2019
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia 		disease Cardiovascular Diseases Disease or Syndrome 756 103 0.020 None 1.000 2 2011 2017
CUI: C0178664
Disease: Glomerulosclerosis (disorder)
Glomerulosclerosis (disorder) 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome 221 3 0.020 None 1.000 2 2017 2017
CUI: C0205697
Disease: Carcinoma, Spindle-Cell
Carcinoma, Spindle-Cell 		disease Neoplasms Neoplastic Process 218 5 0.310 None 1.000 2 2002 2004
CUI: C0206656
Disease: Embryonal Rhabdomyosarcoma
Embryonal Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 121 8 0.020 None 1.000 2 1993 2017
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1179 64 0.020 None 1.000 2 2018 2018