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: C0040820
Disease: Trematode Infections
Trematode Infections 		group Infections Disease or Syndrome 12 0.010 None 1.000 1 2019 2019
CUI: C1527348
Disease: Brain Hypoxia
Brain Hypoxia 		phenotype Nervous System Diseases Pathologic Function 12 0.200 None 1.000 1 2009 2009
CUI: C0432284
Disease: Infantile myofibromatosis
Infantile myofibromatosis 		disease Neoplasms Disease or Syndrome 18 10 0.010 None 1.000 1 1995 1995
CUI: C0748073
Disease: psychosocial stressor
psychosocial stressor 		disease Mental or Behavioral Dysfunction 18 3 0.010 None 1.000 1 2019 2019
CUI: C0206648
Disease: Myofibromatosis
Myofibromatosis 		disease Neoplasms Neoplastic Process 19 7 0.010 None 1.000 1 1995 1995
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome 20 99 0.010 None 1.000 1 1997 1997
CUI: C0233488
Disease: Feeling despair
Feeling despair 		phenotype Behavior and Behavior Mechanisms Sign or Symptom 21 3 0.010 None 1.000 1 2018 2018
CUI: C0024221
Disease: Lymphangioma
Lymphangioma 		disease Neoplasms Neoplastic Process 22 1 0.010 None < 0.001 1 2003 2003
CUI: C3890602
Disease: Bodily Pain
Bodily Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 22 4 0.010 None 1.000 1 2018 2018
CUI: C0268070
Disease: Hypocupremia
Hypocupremia 		disease Disease or Syndrome 23 2 0.010 None 1.000 1 1997 1997
CUI: C0221163
Disease: Motor Disorders
Motor Disorders 		group Mental Disorders Disease or Syndrome 25 2 0.010 None 1.000 1 2017 2017
CUI: C2931826
Disease: Potassium aggravated myotonia
Potassium aggravated myotonia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 27 18 0.010 None 1.000 1 2019 2019
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 1999 1999
CUI: C0700613
Disease: Anxiety state
Anxiety state 		disease Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 40 6 0.010 None 1.000 1 2019 2019
CUI: C0014740
Disease: Erythema Chronicum Migrans
Erythema Chronicum Migrans 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 41 0.010 None 1.000 1 1992 1992
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 42 385 0.010 None 1.000 1 2018 2018
CUI: C0457949
Disease: Chronic low back pain
Chronic low back pain 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 43 3 0.010 None 1.000 1 2018 2018
CUI: C0376280
Disease: Anxiety States, Neurotic
Anxiety States, Neurotic 		disease Mental Disorders Mental or Behavioral Dysfunction 44 0.300 None 1.000 1 2010 2010
CUI: C0004941
Disease: Behavioral Symptoms
Behavioral Symptoms 		group Behavior and Behavior Mechanisms Sign or Symptom 45 9 0.010 None 1.000 1 2018 2018
CUI: C0017677
Disease: Glossitis, Benign Migratory
Glossitis, Benign Migratory 		disease Stomatognathic Diseases Disease or Syndrome 53 1 0.010 None 1.000 1 1992 1992
CUI: C0429087
Disease: Electrocardiogram: P-R interval
Electrocardiogram: P-R interval 		phenotype Finding 57 138 0.100 None 1.000 1 1 2018 2018
CUI: C0027668
Disease: Neoplasms, Vascular Tissue
Neoplasms, Vascular Tissue 		group Neoplasms Neoplastic Process 67 1 0.010 None 1.000 1 2003 2003
CUI: C3496069
Disease: cocaine use
cocaine use 		disease Mental or Behavioral Dysfunction 67 8 0.010 None 1.000 1 2020 2020
CUI: C1279420
Disease: Anxiety neurosis (finding)
Anxiety neurosis (finding) 		disease Mental Disorders Mental or Behavioral Dysfunction 75 5 0.310 None 1.000 2 2010 2019
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 83 46 0.030 None 1.000 3 2017 2018