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: C1836050
Disease: Filaminopathy, autosomal dominant
Filaminopathy, autosomal dominant
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 5 0.900 definitive 17 5 1998 2017
CUI: C3279722
Disease: MYOPATHY, DISTAL, 4
MYOPATHY, DISTAL, 4
disease Disease or Syndrome 1 6 0.700 7 6 2005 2017
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
disease Disease or Syndrome 1 8 0.600 8 8 2005 2017
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 5
disease Disease or Syndrome 1 3 0.500 2 3 2015 2016
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 44 7 0.340 strong 1.000 6 1 2005 2017
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 92 31 0.320 strong 1.000 6 2000 2012
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
group Cardiovascular Diseases Disease or Syndrome 418 387 0.310 limited 1.000 1 2010 2010
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 327 287 0.310 limited 1.000 1 2017 2017
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 21 6 0.310 1.000 1 2016 2016
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
disease Digestive System Diseases; Neoplasms Neoplastic Process 3298 955 0.300 1 2011 2011
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1072 226 0.300 1 2011 2011
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 2931 539 0.300 1 2011 2011
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 306 6 0.300 limited 0
CUI: C0348616
Disease: Other restrictive cardiomyopathy
Other restrictive cardiomyopathy
disease Disease or Syndrome 5 0.300 0
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
group Congenital Abnormality 109 5 0.300 limited 0
CUI: C0264886
Disease: Conduction disorder of the heart
Conduction disorder of the heart
group Cardiovascular Diseases Disease or Syndrome 78 0.300 limited 0
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 38 15 0.200 0.941 17 1 2005 2016
CUI: C0026848
Disease: Myopathy
Myopathy
group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 414 99 0.190 1.000 9 1993 2013
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype Musculoskeletal Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 338 30 0.110 1.000 1 2012 2012
CUI: C0239067
Disease: Difficulty walking up stairs
Difficulty walking up stairs
phenotype Finding 20 1 0.100 0
CUI: C3806644
Disease: Lower limb muscle hypotrophy
Lower limb muscle hypotrophy
phenotype Finding 11 0.100 0
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
disease Cardiovascular Diseases Disease or Syndrome 883 65 0.100 0
CUI: C0018801
Disease: Heart failure
Heart failure
disease Cardiovascular Diseases Disease or Syndrome 814 91 0.100 0
CUI: C0013404
Disease: Dyspnea
Dyspnea
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 187 5 0.100 0
CUI: C0700078
Disease: Decreased tendon reflex
Decreased tendon reflex
phenotype Sign or Symptom 194 0.100 0