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: C2931783
Disease: Amelogenesis imperfecta nephrocalcinosis
Amelogenesis imperfecta nephrocalcinosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Stomatognathic Diseases Disease or Syndrome 19 17 0.780 None 1.000 16 12 2011 2019
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 61 24 0.180 None 1.000 8 1 2012 2019
CUI: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis 		disease Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 118 20 0.140 None 1.000 4 2012 2018
CUI: C0016049
Disease: Fibromatosis, Gingival
Fibromatosis, Gingival 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Anatomical Abnormality 20 1 0.030 None 1.000 3 2014 2018
CUI: C3873241
Disease: Amelogenesis imperfecta and gingival hyperplasia syndrome
Amelogenesis imperfecta and gingival hyperplasia syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 1 0.020 None 1.000 2 2011 2015
CUI: C0015230
Disease: Exanthema
Exanthema 		phenotype Skin and Connective Tissue Diseases Sign or Symptom 251 14 0.020 None 1.000 2 2012 2014
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		phenotype Laboratory Procedure 338 456 0.100 None 1.000 1 1 2012 2012
CUI: C4704862
Disease: Polyarthritis, Juvenile, Rheumatoid Factor Positive
Polyarthritis, Juvenile, Rheumatoid Factor Positive 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 131 0.300 None 1.000 1 2009 2009
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 242 99 0.010 None 1.000 1 2014 2014
CUI: C0399367
Disease: Amelogenesis imperfecta local hypoplastic form
Amelogenesis imperfecta local hypoplastic form 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 9 2 0.010 None 1.000 1 2012 2012
CUI: C0860659
Disease: Aloof
Aloof 		disease Mental or Behavioral Dysfunction 81 0.010 None 1.000 1 2016 2016
CUI: C0000846
Disease: Agenesis
Agenesis 		disease Congenital Abnormality 161 44 0.010 None 1.000 1 2019 2019
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 450 128 0.300 None 1.000 1 2009 2009
CUI: C3714758
Disease: Juvenile psoriatic arthritis
Juvenile psoriatic arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 138 0.300 None 1.000 1 2009 2009
CUI: C4552091
Disease: Polyarthritis, Juvenile, Rheumatoid Factor Negative
Polyarthritis, Juvenile, Rheumatoid Factor Negative 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 131 0.300 None 1.000 1 2009 2009
CUI: C0087031
Disease: Juvenile-Onset Still Disease
Juvenile-Onset Still Disease 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 171 41 0.300 None 1.000 1 2009 2009
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 979 287 0.010 None 1.000 1 2019 2019
CUI: C0020608
Disease: Hypodontia
Hypodontia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 218 48 0.010 None 1.000 1 2017 2017
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1180 140 0.110 None 1.000 1 2018 2018
CUI: C0031090
Disease: Periodontal Diseases
Periodontal Diseases 		group Stomatognathic Diseases Disease or Syndrome 326 22 0.010 None 1.000 1 2017 2017
CUI: C0031099
Disease: Periodontitis
Periodontitis 		disease Stomatognathic Diseases Disease or Syndrome 682 116 0.010 None 1.000 1 2017 2017
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0035851
Disease: Root Resorption
Root Resorption 		disease Stomatognathic Diseases Disease or Syndrome 43 7 0.010 None < 0.001 1 2013 2013
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 190 71 0.010 None 1.000 1 2014 2014
CUI: C4025067
Disease: Dagger-shaped pulp calcifications
Dagger-shaped pulp calcifications 		phenotype Finding 1 0.100 None 0