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: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 107 84 0.600 None 0.981 54 1999 2018
CUI: C0332890
Disease: Congenital hemihypertrophy
Congenital hemihypertrophy
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Congenital Abnormality 23 2 0.400 None 1.000 2 2005 2006
CUI: C1856184
Disease: HEMIHYPERPLASIA, ISOLATED
HEMIHYPERPLASIA, ISOLATED
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 31 0.330 None 1.000 3 2005 2008
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 586 125 0.140 None 1.000 4 2001 2015
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 105 349 0.110 None 1.000 7 3 1997 2018
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 85 13 0.110 None 1.000 1 2017 2017
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
disease Neoplasms Neoplastic Process 452 22 0.110 None 1.000 1 2015 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 1.000 20 1999 2019
Diabetes Mellitus, Non-Insulin-Dependent
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.100 None 1.000 9 5 2010 2019
QT interval feature (observable entity)
phenotype Clinical Attribute 75 226 0.100 None 1.000 2 2 2017 2019
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 30 54 0.100 None 1.000 2 1 2009 2009
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
phenotype Clinical Attribute 843 1931 0.100 None 1.000 1 1 2013 2013
CUI: C0005612
Disease: Birth Weight
Birth Weight
phenotype Pathological Conditions, Signs and Symptoms Organism Attribute 214 369 0.100 None 1.000 1 2 2019 2019
CUI: C1306620
Disease: Systolic blood pressure measurement
Systolic blood pressure measurement
phenotype Diagnostic Procedure 54 95 0.100 None 1.000 1 1 2013 2013
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure
phenotype Finding 146 344 0.100 None 1.000 1 1 2013 2013
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype Finding 103 93 0.100 None 0
CUI: C1851722
Disease: Overgrowth of external genitalia
Overgrowth of external genitalia
phenotype Finding 6 0.100 None 0
CUI: C1845847
Disease: Coarse facial features
Coarse facial features
phenotype Pathological Conditions, Signs and Symptoms Finding 194 33 0.100 None 0
CUI: C0221766
Disease: Diastasis recti
Diastasis recti
disease Musculoskeletal Diseases; Wounds and Injuries Disease or Syndrome 22 1 0.100 None 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion
phenotype Finding 228 0.100 None 0
CUI: C1851720
Disease: Adrenocortical cytomegaly
Adrenocortical cytomegaly
phenotype Finding 6 0.100 None 0
CUI: C0024421
Disease: Macroglossia
Macroglossia
disease Stomatognathic Diseases Disease or Syndrome 115 2 0.100 None 0
CUI: C1837522
Disease: Impaired pain sensation
Impaired pain sensation
phenotype Finding 41 4 0.100 None 0
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 46 10 0.100 None 0