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: C0239174
Disease: Late tooth eruption
Late tooth eruption 		phenotype Finding 139 4 0.100 None 0
CUI: C1849265
Disease: Overgrowth
Overgrowth 		phenotype Finding 103 93 0.100 None 0
CUI: C0376480
Disease: Gingival Overgrowth
Gingival Overgrowth 		phenotype Stomatognathic Diseases Finding 100 5 0.100 None 0
CUI: C0268077
Disease: Hypophosphaturia
Hypophosphaturia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 2 0.100 None 0
CUI: C1849540
Disease: Delayed eruption of permanent teeth
Delayed eruption of permanent teeth 		phenotype Finding 10 0.100 None 0
CUI: C1859819
Disease: Impaired renal concentrating ability
Impaired renal concentrating ability 		phenotype Finding 2 0.100 None 0
CUI: C1863008
Disease: Yellow-brown discoloration of the teeth
Yellow-brown discoloration of the teeth 		phenotype Finding 7 2 0.100 None 0
CUI: C0032617
Disease: Polyuria
Polyuria 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Sign or Symptom 73 3 0.100 None 0
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 615 42 0.100 None 0
CUI: C0020599
Disease: Hypocalciuria
Hypocalciuria 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 16 4 0.100 None 0
CUI: C4025067
Disease: Dagger-shaped pulp calcifications
Dagger-shaped pulp calcifications 		phenotype Finding 1 0.100 None 0
CUI: C4531126
Disease: Increased circulating osteocalcin level
Increased circulating osteocalcin level 		phenotype Finding 1 0.100 None 0
CUI: C0014394
Disease: Enuresis
Enuresis 		phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 27 3 0.100 None 0
CUI: C0035851
Disease: Root Resorption
Root Resorption 		disease Stomatognathic Diseases Disease or Syndrome 43 7 0.010 None < 0.001 1 2013 2013
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: C0015230
Disease: Exanthema
Exanthema 		phenotype Skin and Connective Tissue Diseases Sign or Symptom 251 14 0.020 None 1.000 2 2012 2014
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: 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: 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: C0860659
Disease: Aloof
Aloof 		disease Mental or Behavioral Dysfunction 81 0.010 None 1.000 1 2016 2016
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