Source: BEFREE ×
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: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 3708 616 0.110 None 1.000 1 1 2015 2019
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1069 411 0.010 None 1.000 1 2017 2017
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 63 6 0.010 None 1.000 1 2006 2006
CUI: C4732730
Disease: Blood spots
Blood spots 		disease Disease or Syndrome 117 0.010 None 1.000 1 2018 2018
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 555 80 0.010 None 1.000 1 2018 2018
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1368 223 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 1480 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 22 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 3 1 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: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5541 769 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
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		phenotype Mental Disorders Mental or Behavioral Dysfunction 407 90 0.010 None 1.000 1 2016 2016
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 196 95 0.010 None 1.000 1 2008 2008
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 830 162 0.010 None 1.000 1 2014 2014
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8577 1441 0.010 None 1.000 1 2013 2013
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 93 8 0.010 None 1.000 1 2000 2000
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases Sign or Symptom 50 5 0.010 None 1.000 1 2019 2019
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 1241 7 0.010 None 1.000 1 1984 1984
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		disease Digestive System Diseases; Neoplasms Neoplastic Process 3687 603 0.010 None 1.000 1 1 2019 2019
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders 		group Skin and Connective Tissue Diseases Disease or Syndrome 544 18 0.010 None 1.000 1 2004 2004
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10153 1571 0.020 None 0.500 2 2014 2018