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.
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 20 48 1.000 definitive 1.000 87 47 1989 2019
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 61 24 0.700 None 1.000 37 7 1999 2019
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma
disease Neoplasms Neoplastic Process 565 20 0.100 None 1.000 11 1988 2012
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
disease Cardiovascular Diseases Disease or Syndrome 773 243 0.100 None 0.818 11 5 1999 2019
CUI: C0018801
Disease: Heart failure
Heart failure
disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.090 None 0.889 9 1 2003 2020
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.190 None 0.889 9 1 2003 2020
CUI: C0270726
Disease: Alexander Disease
Alexander Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 27 99 0.080 None 1.000 8 2001 2017
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: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 41 30 0.070 None 1.000 7 1994 2019
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: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 280 67 0.230 None 1.000 6 1996 2015
CUI: C0220611
Disease: Childhood Rhabdomyosarcoma
Childhood Rhabdomyosarcoma
disease Neoplasms Neoplastic Process 517 12 0.060 None 1.000 6 1990 2012
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma
disease Neoplasms Neoplastic Process 509 12 0.060 None 1.000 6 1990 2012
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.060 None 1.000 6 1 1988 2004
CUI: C0023267
Disease: Fibroid Tumor
Fibroid Tumor
disease Neoplasms Neoplastic Process 413 14 0.050 None 0.800 5 2006 2018
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
disease Neoplasms Neoplastic Process 2509 386 0.050 None 1.000 5 1991 2019
Arrhythmogenic Right Ventricular Dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome; Congenital Abnormality 82 136 0.150 None 1.000 5 6 2010 2015
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.050 None 1.000 5 1991 2019
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: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
disease Neoplasms Neoplastic Process 2420 231 0.050 None 1.000 5 1991 2019
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 586 125 0.040 None 1.000 4 2004 2018
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 83 47 0.330 None 1.000 4 1999 2003
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 29 140 0.040 None 1.000 4 1995 2017
CUI: C1266127
Disease: Histiocytoma, Angiomatoid Fibrous
Histiocytoma, Angiomatoid Fibrous
disease Neoplasms Neoplastic Process 28 0.040 None 1.000 4 2008 2019
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
disease Cardiovascular Diseases Disease or Syndrome 21 24 0.040 None 1.000 4 1 2006 2014