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: C0152459
Disease: Linear atrophy
Linear atrophy 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 149 6 0.030 None 1.000 3 1997 2013
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.010 None 1.000 1 2018 2018
CUI: C0403654
Disease: Bladder outflow obstruction
Bladder outflow obstruction 		disease Acquired Abnormality 5 0.010 None 1.000 1 2015 2015
CUI: C0016049
Disease: Fibromatosis, Gingival
Fibromatosis, Gingival 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Anatomical Abnormality 20 1 0.010 None 1.000 1 2017 2017
CUI: C4021637
Disease: Abnormality of the nares
Abnormality of the nares 		disease Anatomical Abnormality 8 2 0.100 None 0 1
CUI: C4021866
Disease: obsolete Abnormal heart morphology
obsolete Abnormal heart morphology 		phenotype Anatomical Abnormality 12 13 0.100 None 0 1
CUI: C4024923
Disease: Diffuse white matter abnormalities
Diffuse white matter abnormalities 		disease Pathological Conditions, Signs and Symptoms Anatomical Abnormality 34 4 0.100 None 0 1
CUI: C0025568
Disease: Metaplasia
Metaplasia 		phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 52 0.200 None 1.000 1 2008 2008
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		phenotype Clinical Attribute 75 226 0.100 None 1.000 8 9 2009 2019
CUI: C1305855
Disease: Body mass index
Body mass index 		phenotype Clinical Attribute 1014 2689 0.100 None 1.000 2 3 2014 2017
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		phenotype Clinical Attribute 843 1931 0.100 None 1.000 1 1 2013 2013
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 72 11 0.060 None 1.000 6 1 1997 2010
CUI: C1865866
Disease: Congenital sensorineural hearing loss
Congenital sensorineural hearing loss 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 68 17 0.110 None 1.000 2 1 2010 2018
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 304 122 0.010 None 1.000 1 1 2015 2015
CUI: C0266292
Disease: Congenital anomaly of the kidney
Congenital anomaly of the kidney 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 63 4 0.010 None 1.000 1 2011 2011
CUI: C0266589
Disease: Congenital ear anomaly NOS (disorder)
Congenital ear anomaly NOS (disorder) 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Otorhinolaryngologic Diseases Congenital Abnormality 137 5 0.110 None 1.000 1 2005 2005
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 725 80 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
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality 497 70 0.100 None 0 1
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 0.100 None 0
CUI: C0431352
Disease: Secondary microcephaly
Secondary microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 13 20 0.100 None 0 1
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease Congenital Abnormality 417 30 0.100 None 0 1
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 85 13 0.100 None 0
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 51 29 0.100 None 0 1
CUI: C4021770
Disease: Clinodactyly of toe
Clinodactyly of toe 		disease Congenital Abnormality 8 2 0.100 None 0 1