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: C0030327
Disease: Panniculitis, Lupus Erythematosus
Panniculitis, Lupus Erythematosus 		disease Skin and Connective Tissue Diseases Disease or Syndrome 5 0.010 None 1.000 1 2018 2018
CUI: C1858995
Disease: Decreased circulating progesterone
Decreased circulating progesterone 		phenotype Finding 5 0.100 None 0
CUI: C4025319
Disease: Cessation of head growth
Cessation of head growth 		disease Anatomical Abnormality 6 0.100 None 0
CUI: C1847967
Disease: OVARIOLEUKODYSTROPHY
OVARIOLEUKODYSTROPHY 		disease Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 7 9 0.810 None 1.000 6 3 2003 2016
CUI: C0348489
Disease: Other sphingolipidosis
Other sphingolipidosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 7 0.200 None 1.000 3 2010 2016
CUI: C0008058
Disease: Chilblains
Chilblains 		disease Wounds and Injuries Disease or Syndrome 12 4 0.010 None 1.000 1 2018 2018
CUI: C2960129
Disease: Vanishing white matter disease
Vanishing white matter disease 		disease Nervous System Diseases Disease or Syndrome 14 4 0.080 None 1.000 8 2006 2019
CUI: C3887485
Disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 		phenotype Finding 20 19 0.100 None 0 1
CUI: C1859014
Disease: Primary gonadal insufficiency
Primary gonadal insufficiency 		phenotype Finding 21 0.100 None 0
CUI: C2677328
Disease: Cerebral hypomyelination
Cerebral hypomyelination 		phenotype Finding 29 6 0.100 None 0
CUI: C0267187
Disease: Intestinal metaplasia of gastric mucosa
Intestinal metaplasia of gastric mucosa 		disease Digestive System Diseases; Neoplasms Neoplastic Process 35 1 0.010 None 1.000 1 2017 2017
CUI: C0024137
Disease: Lupus Erythematosus, Cutaneous
Lupus Erythematosus, Cutaneous 		disease Skin and Connective Tissue Diseases Disease or Syndrome 39 7 0.010 None 1.000 1 2019 2019
CUI: C0265797
Disease: Congenital emphysema
Congenital emphysema 		disease Respiratory Tract Diseases Congenital Abnormality 40 0.010 None 1.000 1 2019 2019
CUI: C0240735
Disease: Personality Change
Personality Change 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 43 6 0.100 None 0
CUI: C0425957
Disease: Secondary amenorrhea
Secondary amenorrhea 		phenotype Pathological Conditions, Signs and Symptoms Finding 49 0.100 None 0
CUI: C0338474
Disease: Central nervous system demyelination
Central nervous system demyelination 		disease Disease or Syndrome 52 3 0.100 None 0
CUI: C0232940
Disease: Secondary physiologic amenorrhea
Secondary physiologic amenorrhea 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 58 2 0.100 None 0
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		disease Nervous System Diseases Disease or Syndrome 59 63 0.990 strong 1.000 25 31 2001 2019
CUI: C0011253
Disease: Delusions
Delusions 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 62 15 0.100 None 0
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 72 24 0.100 None 0 1
CUI: C0017639
Disease: Gliosis
Gliosis 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 102 3 0.100 None 0
CUI: C4553765
Disease: Memory Impairment, CTCAE 5.0
Memory Impairment, CTCAE 5.0 		phenotype Finding 108 0.100 None 0
CUI: C1963167
Disease: Memory Impairment, CTCAE 3.0
Memory Impairment, CTCAE 3.0 		phenotype Finding 109 2 0.100 None 0
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 129 10 0.100 None 0
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 136 23 0.300 None 1.000 1 1977 1977