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: C0036280
Disease: Burn scar
Burn scar
disease Pathological Conditions, Signs and Symptoms; Wounds and Injuries Acquired Abnormality 11 0.020 None 1.000 2 2015 2017
CUI: C4021816
Disease: Abnormality of the gingiva
Abnormality of the gingiva
disease Anatomical Abnormality 13 1 0.100 None 0
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.010 None 1.000 1 2016 2016
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 106 16 0.010 None 1.000 1 2018 2018
CUI: C0020608
Disease: Hypodontia
Hypodontia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 218 48 0.100 None 0
CUI: C1834405
Disease: Nail dysplasia
Nail dysplasia
disease Pathological Conditions, Signs and Symptoms Congenital Abnormality 78 2 0.100 None 0
CUI: C2609071
Disease: Olmsted syndrome
Olmsted syndrome
disease Disease or Syndrome 5 3 0.800 None 1.000 18 3 2012 2019
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders
group Skin and Connective Tissue Diseases Disease or Syndrome 617 21 0.090 None 1.000 9 2 2008 2019
CUI: C0011603
Disease: Dermatitis
Dermatitis
disease Skin and Connective Tissue Diseases Disease or Syndrome 496 16 0.030 None 1.000 3 1 2008 2019
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 751 232 0.220 None 1.000 3 1997 2019
CUI: C0002170
Disease: Alopecia
Alopecia
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 491 375 0.120 None 1.000 2 1 2008 2019
CUI: C0013595
Disease: Eczema
Eczema
disease Skin and Connective Tissue Diseases Disease or Syndrome 863 368 0.020 None 1.000 2 2017 2019
CUI: C0037277
Disease: Skin Diseases, Genetic
Skin Diseases, Genetic
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 57 6 0.020 None 1.000 2 1 2012 2014
CUI: C0239211
Disease: Oedema auricular
Oedema auricular
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 24 0.020 None 1.000 2 2017 2019
CUI: C0008373
Disease: Cholesteatoma
Cholesteatoma
disease Skin and Connective Tissue Diseases Disease or Syndrome 135 1 0.010 None 1.000 1 2017 2017
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
disease Digestive System Diseases Disease or Syndrome 1458 827 0.010 None 1.000 1 2018 2018
CUI: C0014804
Disease: Erythromelalgia
Erythromelalgia
disease Cardiovascular Diseases Disease or Syndrome 14 5 0.010 None 1.000 1 2014 2014
CUI: C0016053
Disease: Fibromyalgia
Fibromyalgia
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 143 38 0.010 None 1.000 1 2016 2016
CUI: C0027430
Disease: Nasal Polyps
Nasal Polyps
disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 484 34 0.010 None 1.000 1 2017 2017
CUI: C0033999
Disease: Pterygium
Pterygium
disease Eye Diseases Disease or Syndrome 216 5 0.010 None 1.000 1 2017 2017
CUI: C0035854
Disease: Rosacea
Rosacea
disease Skin and Connective Tissue Diseases Disease or Syndrome 41 2 0.010 None 1.000 1 2018 2018
CUI: C0037284
Disease: Skin lesion
Skin lesion
group Skin and Connective Tissue Diseases Disease or Syndrome 563 52 0.010 None 1.000 1 2019 2019
CUI: C0149516
Disease: Chronic sinusitis
Chronic sinusitis
disease Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 205 6 0.010 None 1.000 1 2017 2017
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
group Nervous System Diseases Disease or Syndrome 512 264 0.010 None 1.000 1 1 2012 2012
CUI: C0154723
Disease: Migraine with Aura
Migraine with Aura
disease Nervous System Diseases Disease or Syndrome 87 56 0.010 None 1.000 1 1 2012 2012