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: C0029445
Disease: Bone necrosis
Bone necrosis
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Pathologic Function 23 5 0.010 None 1.000 1 2009 2009
CUI: C0278608
Disease: Adult Liposarcoma
Adult Liposarcoma
disease Neoplasms Neoplastic Process 143 6 0.010 None 1.000 1 2011 2011
CUI: C0279984
Disease: Childhood Liposarcoma
Childhood Liposarcoma
disease Neoplasms Neoplastic Process 143 6 0.010 None 1.000 1 2011 2011
CUI: C0338106
Disease: Adenocarcinoma of colon
Adenocarcinoma of colon
disease Digestive System Diseases; Neoplasms Neoplastic Process 406 10 0.010 None 1.000 1 2019 2019
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.010 None 1.000 1 1 2017 2017
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 1998 1998
CUI: C0344315
Disease: Depressed mood
Depressed mood
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1461 269 0.010 None 1.000 1 2018 2018
CUI: C0362046
Disease: Prediabetes syndrome
Prediabetes syndrome
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 205 16 0.010 None 1.000 1 2019 2019
CUI: C0376618
Disease: Endotoxemia
Endotoxemia
phenotype Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 401 5 0.010 None 1.000 1 2019 2019
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 44 18 0.010 None 1.000 1 2002 2002
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 1263 112 0.010 None 1.000 1 2019 2019
CUI: C0497327
Disease: Dementia
Dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 816 176 0.010 None 1.000 1 2010 2010
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive
disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 480 105 0.010 None 1.000 1 2019 2019
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone
disease Neoplasms Neoplastic Process 2247 151 0.010 None 1.000 1 2019 2019
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4173 1142 0.010 None 1.000 1 2017 2017
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1179 64 0.010 None 1.000 1 2018 2018
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
disease Neoplasms Neoplastic Process 2283 178 0.010 None 1.000 1 2019 2019
CUI: C0033300
Disease: Progeria
Progeria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 118 41 0.010 None 1.000 1 1 2011 2011
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
disease Respiratory Tract Diseases Disease or Syndrome 924 25 0.010 None 1.000 1 2019 2019
CUI: C0035078
Disease: Kidney Failure
Kidney Failure
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 378 36 0.010 None 1.000 1 2007 2007
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
disease Neoplasms; Eye Diseases Neoplastic Process 853 193 0.010 None 1.000 1 2013 2013
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.010 None 1.000 1 2017 2017
CUI: C0040822
Disease: Tremor
Tremor
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 528 52 0.010 None 1.000 1 1 2014 2014
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 113 22 0.010 None 1.000 1 2017 2017
CUI: C0153452
Disease: Malignant neoplasm of gallbladder
Malignant neoplasm of gallbladder
disease Digestive System Diseases; Neoplasms Neoplastic Process 425 81 0.010 None 1.000 1 2020 2020