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: C3826457
Disease: Diabetes in children
Diabetes in children 		disease Disease or Syndrome 22 2 0.010 None 1.000 1 2014 2014
CUI: C0342273
Disease: Transient neonatal diabetes mellitus
Transient neonatal diabetes mellitus 		disease Disease or Syndrome 23 0.100 None 0
CUI: C1846439
Disease: Hypoplasia of the odontoid process
Hypoplasia of the odontoid process 		phenotype Musculoskeletal Diseases Finding 23 1 0.100 None 0
CUI: C1842153
Disease: Irregular vertebral endplates
Irregular vertebral endplates 		phenotype Finding 24 2 0.100 None 0
CUI: C2936476
Disease: Chronic Liver Failure
Chronic Liver Failure 		disease Digestive System Diseases Disease or Syndrome 25 1 0.100 None 0
CUI: C4020962
Disease: Enlarged thorax
Enlarged thorax 		phenotype Finding 25 4 0.100 None 0
CUI: C1865343
Disease: OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE
OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 26 9 0.010 None 1.000 1 2014 2014
CUI: C0392476
Disease: Epiphyseal dysplasia
Epiphyseal dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 27 0.100 None 0
CUI: C0206608
Disease: Flavivirus Infections
Flavivirus Infections 		group Infections Disease or Syndrome 30 0.010 None 1.000 1 2015 2015
CUI: C0432355
Disease: Hypoplasia of nipple
Hypoplasia of nipple 		disease Congenital Abnormality 33 1 0.010 None 1.000 1 2014 2014
CUI: C3887641
Disease: Recurrent hepatitis
Recurrent hepatitis 		disease Digestive System Diseases Disease or Syndrome 35 5 0.020 None 1.000 2 2013 2013
CUI: C0038238
Disease: Steatorrhea
Steatorrhea 		phenotype Digestive System Diseases; Nutritional and Metabolic Diseases Finding 37 0.100 None 0
CUI: C2363774
Disease: Neutrophilic asthma
Neutrophilic asthma 		disease Disease or Syndrome 40 2 0.010 None 1.000 1 2017 2017
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 40 7 0.100 None 0
CUI: C0266610
Disease: Preauricular dimple
Preauricular dimple 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 40 5 0.100 None 0
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 42 33 0.380 None 1.000 8 2004 2015
CUI: C0263313
Disease: Pemphigus Foliaceus
Pemphigus Foliaceus 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 51 16 0.010 None 1.000 1 2019 2019
CUI: C0426789
Disease: Short thorax
Short thorax 		phenotype Finding 51 8 0.100 None 0
CUI: C0017979
Disease: Glycosuria
Glycosuria 		phenotype Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 53 7 0.100 None 0
CUI: C0016514
Disease: Foot-and-Mouth Disease
Foot-and-Mouth Disease 		group Infections; Animal Diseases Disease or Syndrome 56 0.010 None 1.000 1 2019 2019
CUI: C0151747
Disease: Renal tubular disorder
Renal tubular disorder 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 64 5 0.100 None 0
CUI: C0393734
Disease: Complex Partial Status Epilepticus
Complex Partial Status Epilepticus 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 68 0.300 None 1.000 1 2006 2006
CUI: C0751524
Disease: Simple Partial Status Epilepticus
Simple Partial Status Epilepticus 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 68 0.300 None 1.000 1 2006 2006
CUI: C0239137
Disease: Coxa valga
Coxa valga 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Finding 68 5 0.100 None 0
CUI: C0751522
Disease: Status Epilepticus, Subclinical
Status Epilepticus, Subclinical 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 69 0.300 None 1.000 1 2006 2006