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: C1864573
Disease: Iridescent posterior subcapsular cataract
Iridescent posterior subcapsular cataract 		phenotype Finding 1 0.100 None 0
CUI: C1864570
Disease: Insulin insensitivity
Insulin insensitivity 		phenotype Finding 2 0.100 None 0
CUI: C0877221
Disease: Decreased erythroid precursor production
Decreased erythroid precursor production 		disease Disease or Syndrome 3 0.010 None 1.000 1 2019 2019
CUI: C1864584
Disease: Frontal balding
Frontal balding 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 4 0.100 None 0
CUI: C0031048
Disease: Pericarditis, Constrictive
Pericarditis, Constrictive 		disease Cardiovascular Diseases Disease or Syndrome 8 1 0.010 None 1.000 1 2019 2019
CUI: C0553604
Disease: Myotonic Disorders
Myotonic Disorders 		group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 9 0.010 None 1.000 1 2004 2004
CUI: C0410226
Disease: Congenital Myotonic Dystrophy
Congenital Myotonic Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 9 0.300 None 0
CUI: C0342880
Disease: Polygenic hypercholesterolemia
Polygenic hypercholesterolemia 		disease Disease or Syndrome 10 3 0.010 None 1.000 1 2002 2002
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Congenital Abnormality 11 20 0.010 None 1.000 1 2018 2018
CUI: C0542035
Disease: Erythroid hypoplasia
Erythroid hypoplasia 		disease Disease or Syndrome 14 1 0.010 None 1.000 1 2019 2019
CUI: C1864580
Disease: Type 2 muscle fiber atrophy
Type 2 muscle fiber atrophy 		phenotype Finding 14 2 0.100 None 0
CUI: C0027125
Disease: Myotonia
Myotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 19 7 0.400 limited 0
CUI: C0233532
Disease: Maladaptive behavior associated with physical illness
Maladaptive behavior associated with physical illness 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 26 0.010 None 1.000 1 2009 2009
CUI: C4021550
Disease: Elevated circulating follicle stimulating hormone level
Elevated circulating follicle stimulating hormone level 		phenotype Finding 26 0.100 None 0
CUI: C1843637
Disease: Neck flexor weakness
Neck flexor weakness 		phenotype Finding 30 0.100 None 0
CUI: C2748055
Disease: Hypoinsulinaemia (disorder)
Hypoinsulinaemia (disorder) 		disease Disease or Syndrome 36 0.010 None 1.000 1 2019 2019
CUI: C4524040
Disease: Atherogenic dyslipidaemia
Atherogenic dyslipidaemia 		disease Disease or Syndrome 36 9 0.010 None 1.000 1 2017 2017
CUI: C0206064
Disease: Microvascular Angina
Microvascular Angina 		disease Cardiovascular Diseases Disease or Syndrome 39 10 0.010 None 1.000 1 2004 2004
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 40 13 0.010 None 1.000 1 2014 2014
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome 42 30 0.010 None 1.000 1 2016 2016
CUI: C0020476
Disease: Hyperlipoproteinemias
Hyperlipoproteinemias 		disease Nutritional and Metabolic Diseases Disease or Syndrome 49 7 0.010 None 1.000 1 2001 2001
CUI: C2936179
Disease: Obesity, Visceral
Obesity, Visceral 		phenotype Nutritional and Metabolic Diseases Sign or Symptom 55 3 0.030 None 1.000 3 2012 2018
CUI: C3160712
Disease: Palpitations, CTCAE
Palpitations, CTCAE 		phenotype Finding 64 0.100 None 0
CUI: C0030252
Disease: Palpitations
Palpitations 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Finding 70 7 0.100 None 0
CUI: C0039231
Disease: Tachycardia
Tachycardia 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 73 8 0.100 None 0