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.
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 3 7 0.750 1.000 10 7 2004 2016
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 28 0.700 46 28 1993 2017
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
disease Disease or Syndrome 1 5 0.600 7 5 2006 2017
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 297 104 0.500 strong 1.000 48 4 1997 2018
CUI: C0023804
Disease: Lipomatosis, Multiple Symmetrical
Lipomatosis, Multiple Symmetrical
disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 9 1 0.310 1.000 1 1 2016 2016
Lipomatosis, Familial Benign Cervical
disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Neoplastic Process 1 1 0.310 1.000 1 1 2016 2016
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 125 21 0.310 1.000 1 2009 2009
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group Nutritional and Metabolic Diseases Disease or Syndrome 383 57 0.310 strong 1.000 1 2009 2009
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly
phenotype Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms Finding 158 0.300 1 2007 2007
CUI: C1383860
Disease: Cardiac Hypertrophy
Cardiac Hypertrophy
phenotype Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms Pathologic Function 77 8 0.300 1 2007 2007
CUI: C2931642
Disease: Benign symmetrical lipomatosis
Benign symmetrical lipomatosis
disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 12 0.300 0
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 306 6 0.300 limited 0
Hereditary Autosomal Dominant Spastic Paraplegia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 13 3 0.300 0
CUI: C0028754
Disease: Obesity
Obesity
disease Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 1960 811 0.240 1.000 4 2003 2005
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Mental Disorders; Nervous System Diseases Disease or Syndrome 1981 1062 0.220 1.000 3 2009 2017
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 362 15 0.200 1.000 12 2 2006 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 1309 447 0.200 2 2015 2017
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
disease Cardiovascular Diseases Disease or Syndrome 965 454 0.200 1 2011 2011
Other specified transient cerebral ischemias
disease Disease or Syndrome 154 0.200 1 2014 2014
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
disease Respiratory Tract Diseases Disease or Syndrome 431 13 0.200 1 2014 2014
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy
disease Cardiovascular Diseases; Endocrine System Diseases; Eye Diseases Disease or Syndrome 246 115 0.200 1 2018 2018
CUI: C0362046
Disease: Prediabetes syndrome
Prediabetes syndrome
disease Endocrine System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 81 14 0.200 1 2016 2016
CUI: C0015696
Disease: Fatty Liver, Alcoholic
Fatty Liver, Alcoholic
disease Digestive System Diseases; Substance-Related Disorders Disease or Syndrome 59 2 0.200 1 2014 2014
CUI: C0011570
Disease: Mental Depression
Mental Depression
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 574 137 0.200 1 2012 2012
CUI: C0007787
Disease: Transient Ischemic Attack
Transient Ischemic Attack
disease Cardiovascular Diseases; Nervous System Diseases Disease or Syndrome 190 0.200 1 2014 2014