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: C0017205
Disease: Gaucher Disease
Gaucher Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 143 82 0.100 None 0.979 143 1973 2019
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 48 124 0.100 None 0.882 17 1983 2019
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 130 8 0.100 None 0.909 11 1983 2014
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 255 41 0.060 None 1.000 6 2011 2019
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
Gaucher Disease, Type 3 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 18 26 0.050 None 1.000 5 1988 2017
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
Gaucher Disease, Type 2 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 6 34 0.030 None 1.000 3 1997 2008
CUI: C0002871
Disease: Anemia
Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.030 None 1.000 3 2004 2017
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		disease Disease or Syndrome 247 76 0.020 None 1.000 2 2016 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.020 None 0.500 2 2014 2018
CUI: C0014378
Disease: Enterovirus Infections
Enterovirus Infections 		group Infections Disease or Syndrome 237 12 0.020 None 1.000 2 2015 2017
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.020 None 1.000 2 2004 2013
CUI: C0265962
Disease: Ichthyosis linearis circumflexa
Ichthyosis linearis circumflexa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality 64 20 0.010 None 1.000 1 2006 2006
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		phenotype Mental Disorders Mental or Behavioral Dysfunction 508 121 0.010 None 1.000 1 2016 2016
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 596 81 0.010 None 1.000 1 2018 2018
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.010 None 1.000 1 2016 2016
CUI: C0426980
Disease: Motor symptoms
Motor symptoms 		phenotype Sign or Symptom 100 15 0.010 None 1.000 1 2014 2014
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		group Nervous System Diseases Disease or Syndrome 1515 85 0.010 None 1.000 1 2014 2014
CUI: C0600452
Disease: Hepatopulmonary Syndrome
Hepatopulmonary Syndrome 		disease Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 29 1 0.010 None 1.000 1 2019 2019
CUI: C0686377
Disease: CNS metastases
CNS metastases 		phenotype Neoplasms; Nervous System Diseases Neoplastic Process 102 14 0.010 None < 0.001 1 1994 1994
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		disease Nervous System Diseases Disease or Syndrome 20 20 0.010 None 1.000 1 2010 2010
CUI: C1096184
Disease: West Nile viral infection
West Nile viral infection 		disease Infections; Nervous System Diseases Disease or Syndrome 164 2 0.010 None 1.000 1 2016 2016
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2013 2013
CUI: C4732730
Disease: Blood spots
Blood spots 		disease Disease or Syndrome 117 0.010 None 1.000 1 2018 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.010 None 1.000 1 1984 1984
CUI: C4511452
Disease: Sporadic Parkinson disease
Sporadic Parkinson disease 		disease Nervous System Diseases Disease or Syndrome 179 65 0.010 None 1.000 1 2012 2012