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: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 30 38 0.010 None 1.000 1 2005 2005
CUI: C0424166
Disease: Social Anxiety
Social Anxiety
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 57 6 0.010 None 1.000 1 2019 2019
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4081 1204 0.010 None 1.000 1 2018 2018
CUI: C1868114
Disease: POLYDACTYLY, PREAXIAL II (disorder)
POLYDACTYLY, PREAXIAL II (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome 4 10 0.010 None 1.000 1 2017 2017
CUI: C0860603
Disease: Anxiety symptoms
Anxiety symptoms
phenotype Sign or Symptom 110 10 0.010 None 1.000 1 2019 2019
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3894 981 0.010 None 1.000 1 2018 2018
CUI: C1696701
Disease: Skin-picking
Skin-picking
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 10 2 0.010 None 1.000 1 2017 2017
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.010 None 1.000 1 2019 2019
CUI: C1843920
Disease: COENZYME Q10 DEFICIENCY
COENZYME Q10 DEFICIENCY
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 21 3 0.010 None 1.000 1 2007 2007
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
disease Disease or Syndrome 51 4 0.010 None 1.000 1 1992 1992
Amputated structure (morphologic abnormality)
phenotype Wounds and Injuries Acquired Abnormality 94 0.010 None 1.000 1 2019 2019
CUI: C0270736
Disease: Essential Tremor
Essential Tremor
disease Nervous System Diseases Disease or Syndrome 122 79 0.010 None < 0.001 1 2017 2017
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.010 None 1.000 1 2017 2017
CUI: C0023643
Disease: Lichen disease
Lichen disease
disease Skin and Connective Tissue Diseases Disease or Syndrome 33 0.010 None 1.000 1 2017 2017
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
group Immune System Diseases Disease or Syndrome 973 31 0.010 None 1.000 1 2009 2009
CUI: C0020502
Disease: Hyperparathyroidism
Hyperparathyroidism
disease Endocrine System Diseases Disease or Syndrome 111 14 0.010 None 1.000 1 2018 2018
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 472 83 0.010 None 1.000 1 2019 2019
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1719 297 0.010 None 1.000 1 2018 2018
CUI: C0011570
Disease: Mental Depression
Mental Depression
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1478 271 0.010 None 1.000 1 2018 2018
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.010 None 1.000 1 2017 2017
CUI: C0026946
Disease: Mycoses
Mycoses
group Infections Disease or Syndrome 94 2 0.010 None 1.000 1 2017 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 2078 990 0.010 None < 0.001 1 2017 2017
CUI: C0031572
Disease: Phobia, Social
Phobia, Social
disease Mental Disorders Mental or Behavioral Dysfunction 33 8 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 2018 2018
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 56 15 0.010 None 1.000 1 2017 2017