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: C0522216
Disease: Abnormal auditory evoked potential
Abnormal auditory evoked potential
phenotype Finding 11 2 0.100 None 0
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation
phenotype Finding 58 5 0.100 None 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 115 6 0.100 None 0 1
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential
phenotype Nervous System Diseases Finding 55 5 0.100 None 0
CUI: C4025692
Disease: Abnormality of calvarial morphology
Abnormality of calvarial morphology
phenotype Anatomical Abnormality 8 1 0.100 None 0 1
CUI: C4021755
Disease: Abnormality of midbrain morphology
Abnormality of midbrain morphology
phenotype Anatomical Abnormality 2 1 0.100 None 0 1
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear
disease Anatomical Abnormality 95 8 0.100 None 0 1
Abnormality of the periventricular white matter
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Anatomical Abnormality 45 7 0.100 None 0 1
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna
phenotype Finding 85 9 0.100 None 0
CUI: C1609524
Disease: ADHF
ADHF
disease Disease or Syndrome 46 0.010 None 1.000 1 2018 2018
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 294 116 0.010 None 1.000 1 2001 2001
CUI: C0002963
Disease: Angina Pectoris, Variant
Angina Pectoris, Variant
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 26 4 0.010 None 1.000 1 2018 2018
CUI: C0003028
Disease: Anhidrosis
Anhidrosis
disease Skin and Connective Tissue Diseases Disease or Syndrome 37 2 0.100 None 0
CUI: C0003079
Disease: Anisocoria
Anisocoria
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 7 5 0.100 None 0 1
Aplasia/Hypoplasia of the cerebellum
phenotype Finding 116 5 0.100 None 0 1
Aplasia/Hypoplasia of the corpus callosum
phenotype Finding 108 8 0.100 None 0 1
CUI: C4739246
Disease: Apnea+hypopnea
Apnea+hypopnea
disease Disease or Syndrome 17 3 0.010 None 1.000 1 2017 2017
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.100 None 0
CUI: C0221392
Disease: Atrophic Vaginitis
Atrophic Vaginitis
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 5 0.010 None 1.000 1 2017 2017
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 101 1 0.100 None 0
CUI: C0004610
Disease: Bacteremia
Bacteremia
disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 233 7 0.010 None 1.000 1 2014 2014
Bacteroides fragilis infection in conditions classified elsewhere and of unspecified site
disease Disease or Syndrome 43 0.010 None 1.000 1 2017 2017
CUI: C1389280
Disease: Basal ganglia calcification
Basal ganglia calcification
phenotype Pathologic Function 22 3 0.100 None 0
CUI: C0006625
Disease: Cachexia
Cachexia
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 273 11 0.010 None 1.000 1 2013 2013
CUI: C0006840
Disease: Candidiasis
Candidiasis
disease Infections Disease or Syndrome 95 8 0.010 None 1.000 1 2018 2018