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: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 9 30 1.000 None 1.000 25 29 2001 2019
CUI: C2931276
Disease: Spastic paraplegia 17
Spastic paraplegia 17 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 12 3 0.800 None 1.000 21 3 2001 2019
CUI: C1833308
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V 		disease Nervous System Diseases Disease or Syndrome 12 16 0.760 None 1.000 10 4 2000 2019
CUI: C4014700
Disease: ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY
ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY 		disease Disease or Syndrome 2 4 0.720 None 1.000 6 3 2004 2019
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 49 15 0.700 strong 0.971 34 4 2001 2019
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 226 28 0.700 None 1.000 23 1 2002 2019
CUI: C1720862
Disease: Congenital Generalized Lipodystrophy Type 1
Congenital Generalized Lipodystrophy Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 6 25 0.310 None 1.000 1 2009 2009
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 580 308 0.300 None 1.000 1 2014 2014
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		phenotype Endocrine System Diseases Pathologic Function 196 21 0.300 None 1.000 1 2015 2015
CUI: C0028960
Disease: Oligospermia
Oligospermia 		disease Male Urogenital Diseases Disease or Syndrome 217 72 0.300 None 1.000 1 2015 2015
CUI: C0403823
Disease: Asthenozoospermia
Asthenozoospermia 		disease Male Urogenital Diseases Disease or Syndrome 164 17 0.300 None 1.000 1 2015 2015
CUI: C0021655
Disease: Insulin Resistance
Insulin Resistance 		phenotype Nutritional and Metabolic Diseases Pathologic Function 162 53 0.300 None 1.000 1 2015 2015
CUI: C0021364
Disease: Male infertility
Male infertility 		phenotype Male Urogenital Diseases Disease or Syndrome 516 146 0.210 None 1.000 1 2015 2015
CUI: C0494360
Disease: Lipodystrophy, not elsewhere classified
Lipodystrophy, not elsewhere classified 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 4 0.200 None 1.000 5 2011 2014
CUI: C0004509
Disease: Azoospermia
Azoospermia 		disease Male Urogenital Diseases Disease or Syndrome 254 70 0.200 None 1.000 1 2015 2015
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		group Nervous System Diseases Disease or Syndrome 457 64 0.160 None 1.000 6 1 2015 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.130 None 0.667 3 2004 2009
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 48 144 0.120 None 1.000 19 6 2004 2016
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 580 48 0.120 None 1.000 2 2004 2004
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		disease Digestive System Diseases Disease or Syndrome 1143 75 0.120 None 1.000 2 2014 2019
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 560 635 0.120 None 1.000 2 2002 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.120 None 1.000 2 1 2005 2007
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		disease Digestive System Diseases Disease or Syndrome 875 35 0.120 None 1.000 2 2014 2019
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 155 10 0.110 None 1.000 1 1 2015 2015
CUI: C1280433
Disease: Lipoatrophy
Lipoatrophy 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 106 6 0.110 None 1.000 1 2014 2014