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: C4748304
Disease: IMMUNODEFICIENCY 58
IMMUNODEFICIENCY 58
disease Disease or Syndrome 1 8 0.600 None 1.000 5 8 2016 2018
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 86 11 0.410 strong 1.000 2 1 2017 2018
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
phenotype Laboratory Procedure 610 1144 0.100 None 1.000 1 1 2019 2019
High density lipoprotein measurement
phenotype Laboratory Procedure 545 1440 0.100 None 1.000 1 1 2017 2017
CUI: C0004096
Disease: Asthma
Asthma
disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.100 None 0
CUI: C0162154
Disease: Atrophic scar
Atrophic scar
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 23 3 0.100 None 0
CUI: C0237849
Disease: Peeling of skin
Peeling of skin
phenotype Finding 21 0.100 None 0
CUI: C0267375
Disease: Chronic colitis
Chronic colitis
disease Digestive System Diseases Disease or Syndrome 57 1 0.100 None 0 1
CUI: C0271441
Disease: Chronic otitis media
Chronic otitis media
disease Otorhinolaryngologic Diseases Disease or Syndrome 163 6 0.100 None 0
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder)
disease Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 446 176 0.100 None 0
CUI: C2937365
Disease: Recurrent aphthous ulcer
Recurrent aphthous ulcer
disease Stomatognathic Diseases Disease or Syndrome 80 22 0.100 None 0
CUI: C3665596
Disease: Warts
Warts
disease Infections; Skin and Connective Tissue Diseases Neoplastic Process 39 3 0.100 None 0
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections
phenotype Infections; Respiratory Tract Diseases Finding 318 7 0.100 None 0
CUI: C0043037
Disease: Common wart
Common wart
disease Neoplasms; Infections; Skin and Connective Tissue Diseases Disease or Syndrome 48 0.100 None 0
CUI: C0036508
Disease: Seborrheic dermatitis
Seborrheic dermatitis
disease Skin and Connective Tissue Diseases Disease or Syndrome 39 8 0.100 None 0
CUI: C0026393
Disease: Molluscum Contagiosum
Molluscum Contagiosum
disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 18 0.100 None 0
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders
group Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 389 50 0.100 None 0
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 632 63 0.100 None 0
CUI: C0014868
Disease: Esophagitis
Esophagitis
disease Digestive System Diseases Disease or Syndrome 105 7 0.100 None 0
CUI: C0009319
Disease: Colitis
Colitis
disease Digestive System Diseases Disease or Syndrome 1135 15 0.100 None 0 1
CUI: C0008677
Disease: Bronchitis, Chronic
Bronchitis, Chronic
disease Infections; Respiratory Tract Diseases Disease or Syndrome 118 9 0.100 None 0
CUI: C0020757
Disease: Ichthyoses
Ichthyoses
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 194 18 0.100 None 0
CUI: C0006845
Disease: Candidiasis, Chronic Mucocutaneous
Candidiasis, Chronic Mucocutaneous
disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 31 3 0.100 None 0
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis
disease Respiratory Tract Diseases Disease or Syndrome 190 15 0.100 None 0
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder
group Immune System Diseases Disease or Syndrome 93 23 0.010 None 1.000 1 2017 2017