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: C1410927
Disease: Narrow angle
Narrow angle
disease Disease or Syndrome 3 0.010 None 1.000 1 2019 2019
CUI: C0234507
Disease: Anosognosia
Anosognosia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 5 0.010 None 1.000 1 2017 2017
CUI: C0042267
Disease: Vaginitis
Vaginitis
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 12 0.010 None 1.000 1 2005 2005
CUI: C0342342
Disease: Idiopathic Hypoparathyroidism
Idiopathic Hypoparathyroidism
disease Endocrine System Diseases Disease or Syndrome 12 5 0.010 None 1.000 1 1998 1998
Behavioural and psychiatric symptoms of dementia
disease Mental or Behavioral Dysfunction 14 2 0.010 None < 0.001 1 2017 2017
CUI: C3494623
Disease: Mild dementia
Mild dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 16 0.020 None 1.000 2 2013 2019
Paraneoplastic Cerebellar Degeneration
disease Neoplasms; Nervous System Diseases Disease or Syndrome 19 0.020 None 1.000 2 1990 2018
Myelofibrosis due to another disorder
disease Disease or Syndrome 23 6 0.010 None 1.000 1 2001 2001
CUI: C0221060
Disease: Mobius Syndrome
Mobius Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 28 2 0.010 None 1.000 1 1991 1991
Behavioral variant of frontotemporal dementia
disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 35 10 0.010 None 1.000 1 2017 2017
CUI: C0700345
Disease: Candidiasis, Vulvovaginal
Candidiasis, Vulvovaginal
disease Female Urogenital Diseases and Pregnancy Complications; Infections Disease or Syndrome 57 1 0.010 None 1.000 1 2013 2013
CUI: C0006849
Disease: Oral candidiasis
Oral candidiasis
disease Infections; Stomatognathic Diseases Disease or Syndrome 58 2 0.010 None 1.000 1 2011 2011
CUI: C0262404
Disease: Cerebellar degeneration
Cerebellar degeneration
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 60 0.070 None 1.000 7 1987 2019
CUI: C0011253
Disease: Delusions
Delusions
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 62 15 0.010 None 1.000 1 2017 2017
CUI: C3888088
Disease: SMITH-MCCORT DYSPLASIA 1
SMITH-MCCORT DYSPLASIA 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 62 3 0.010 None 1.000 1 2018 2018
Polyglandular Type I Autoimmune Syndrome
disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 64 76 0.010 None 1.000 1 2011 2011
CUI: C1859308
Disease: PREMATURE CENTROMERE DIVISION
PREMATURE CENTROMERE DIVISION
disease Disease or Syndrome 66 2 0.020 None 0.500 2 1997 2018
[D]Sleep disturbances (& [hypersomnia] or [insomnia])
phenotype Sign or Symptom 69 23 0.010 None 1.000 1 2017 2017
CUI: C0017606
Disease: Primary angle-closure glaucoma
Primary angle-closure glaucoma
disease Eye Diseases Disease or Syndrome 87 55 0.010 None 1.000 1 2019 2019
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma
disease Eye Diseases Disease or Syndrome 94 56 0.010 None 1.000 1 2019 2019
CUI: C0026946
Disease: Mycoses
Mycoses
group Infections Disease or Syndrome 94 2 0.010 None 1.000 1 2016 2016
CUI: C0006840
Disease: Candidiasis
Candidiasis
disease Infections Disease or Syndrome 95 8 0.010 None 1.000 1 2017 2017
CUI: C3811918
Disease: GRN-related frontotemporal dementia
GRN-related frontotemporal dementia
disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 112 20 0.010 None 1.000 1 2019 2019
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta
disease Cardiovascular Diseases Disease or Syndrome 152 16 0.010 None 1.000 1 2018 2018
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 160 10 0.020 None 0.500 2 1997 2018