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: C1565106
Disease: Headache Disorders, Primary
Headache Disorders, Primary 		disease Nervous System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2013 2013
CUI: C4225339
Disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2 		disease Disease or Syndrome 1 1 0.700 None 1.000 1 1 2015 2015
CUI: C1275091
Disease: Ichthyosis follicularis with alopecia and photophobia (IFAP)
Ichthyosis follicularis with alopecia and photophobia (IFAP) 		disease Disease or Syndrome; Congenital Abnormality 2 1 0.010 None 1.000 1 2017 2017
CUI: C0221245
Disease: Fissure in skin
Fissure in skin 		phenotype Skin and Connective Tissue Diseases Finding 3 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: C0748035
Disease: pruritus chronic
pruritus chronic 		disease Disease or Syndrome 5 0.010 None 1.000 1 2019 2019
CUI: C0038605
Disease: Subungual hyperkeratosis
Subungual hyperkeratosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 5 0.100 None 0
CUI: C1274743
Disease: Hyperhidrosis Palmaris Et Plantaris
Hyperhidrosis Palmaris Et Plantaris 		disease Skin and Connective Tissue Diseases Disease or Syndrome 10 0.100 None 0
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: C0014804
Disease: Erythromelalgia
Erythromelalgia 		disease Cardiovascular Diseases Disease or Syndrome 14 5 0.010 None 1.000 1 2014 2014
CUI: C0742034
Disease: cerebellar function
cerebellar function 		disease Disease or Syndrome 14 0.010 None 1.000 1 2020 2020
CUI: C0003090
Disease: Ankylosis
Ankylosis 		phenotype Musculoskeletal Diseases Pathologic Function 15 0.100 None 0
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: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		phenotype Finding 25 2 0.100 None 0
CUI: C0085624
Disease: Burning sensation
Burning sensation 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 30 0.010 None 1.000 1 2018 2018
CUI: C0030436
Disease: Parakeratosis
Parakeratosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 31 0.100 None 0
CUI: C0003028
Disease: Anhidrosis
Anhidrosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 37 2 0.100 None 0
CUI: C1535950
Disease: Gastrointestinal inflammation
Gastrointestinal inflammation 		disease Disease or Syndrome 39 0.010 None 1.000 1 2012 2012
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: C1531624
Disease: Cardioembolic stroke
Cardioembolic stroke 		disease Disease or Syndrome 42 28 0.010 None 1.000 1 1 2016 2016
CUI: C0184567
Disease: Acute onset pain
Acute onset pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 53 6 0.020 None 1.000 2 2011 2012
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: C4721411
Disease: Osteolysis
Osteolysis 		phenotype Musculoskeletal Diseases Pathologic Function 62 0.100 None 0
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 69 2 0.100 None 0