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: C0742034
Disease: cerebellar function
cerebellar function
disease Disease or Syndrome 14 0.010 None 1.000 1 2020 2020
CUI: C0748035
Disease: pruritus chronic
pruritus chronic
disease Disease or Syndrome 5 0.010 None 1.000 1 2019 2019
CUI: C1258666
Disease: Myxoid cyst
Myxoid cyst
disease Neoplasms; Skin and Connective Tissue Diseases Disease or Syndrome 106 0.010 None 1.000 1 2002 2002
CUI: C1397307
Disease: Cardiac fibrosis
Cardiac fibrosis
disease Disease or Syndrome 297 3 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: C1535950
Disease: Gastrointestinal inflammation
Gastrointestinal inflammation
disease Disease or Syndrome 39 0.010 None 1.000 1 2012 2012
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: C1867441
Disease: Pterygium Of Conjunctiva And Cornea
Pterygium Of Conjunctiva And Cornea
disease Eye Diseases Disease or Syndrome 169 4 0.010 None 1.000 1 2017 2017
Idiopathic pulmonary arterial hypertension
disease Respiratory Tract Diseases Disease or Syndrome 776 24 0.010 None 1.000 1 2018 2018
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2
disease Disease or Syndrome 1 1 0.700 None 1.000 1 1 2015 2015
CUI: C4520843
Disease: Pterygium of eye
Pterygium of eye
disease Eye Diseases Disease or Syndrome 169 4 0.010 None 1.000 1 2017 2017
CUI: C0003028
Disease: Anhidrosis
Anhidrosis
disease Skin and Connective Tissue Diseases Disease or Syndrome 37 2 0.100 None 0
CUI: C0011334
Disease: Dental caries
Dental caries
disease Stomatognathic Diseases Disease or Syndrome 330 126 0.100 None 0
Sensorineural Hearing Loss (disorder)
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.100 None 0
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis
disease Skin and Connective Tissue Diseases Disease or Syndrome 69 2 0.100 None 0
CUI: C0030436
Disease: Parakeratosis
Parakeratosis
disease Skin and Connective Tissue Diseases Disease or Syndrome 31 0.100 None 0
CUI: C0037299
Disease: Skin Ulcer
Skin Ulcer
phenotype Skin and Connective Tissue Diseases Disease or Syndrome 151 1 0.100 None 0
CUI: C0038605
Disease: Subungual hyperkeratosis
Subungual hyperkeratosis
disease Skin and Connective Tissue Diseases Disease or Syndrome 5 0.100 None 0
CUI: C0041834
Disease: Erythema
Erythema
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 227 8 0.100 None 0
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 81 9 0.100 None 0
CUI: C0870082
Disease: Hyperkeratosis
Hyperkeratosis
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 176 19 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
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
disease Disease or Syndrome 77 1 0.100 None 0
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 165 19 0.100 None 0
Ichthyosis follicularis with alopecia and photophobia (IFAP)
disease Disease or Syndrome; Congenital Abnormality 2 1 0.010 None 1.000 1 2017 2017