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: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		disease Musculoskeletal Diseases Anatomical Abnormality 656 1178 0.100 None 1.000 1 1 2018 2018
CUI: C0018536
Disease: Hallux Valgus
Hallux Valgus 		disease Musculoskeletal Diseases Anatomical Abnormality 61 6 0.100 None 0
CUI: C0238397
Disease: Pulmonary artery stenosis
Pulmonary artery stenosis 		disease Cardiovascular Diseases Anatomical Abnormality 36 2 0.100 None 0 1
CUI: C4022733
Disease: Widened cerebral subarachnoid space
Widened cerebral subarachnoid space 		phenotype Anatomical Abnormality 1 1 0.100 None 0 1
CUI: C4022765
Disease: Abnormality of the subarachnoid space
Abnormality of the subarachnoid space 		phenotype Anatomical Abnormality 3 4 0.100 None 0 1
CUI: C4025701
Disease: Abnormality of the cerebral cortex
Abnormality of the cerebral cortex 		disease Anatomical Abnormality 11 8 0.100 None 0 1
CUI: C4025724
Disease: Abnormality of the cerebral ventricles
Abnormality of the cerebral ventricles 		disease Anatomical Abnormality 4 5 0.100 None 0 1
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 165 17 0.010 None 1.000 1 2008 2008
CUI: C1305855
Disease: Body mass index
Body mass index 		phenotype Clinical Attribute 1014 2689 0.100 None 1.000 2 1 2019 2019
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 251 350 0.100 None 1.000 18 2 1990 2016
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 18 7 1990 2016
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.500 strong 1.000 13 1999 2019
CUI: C1297882
Disease: Partial Trisomy
Partial Trisomy 		disease Pathological Conditions, Signs and Symptoms Congenital Abnormality 29 0.040 None 1.000 4 2001 2012
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.010 None 1.000 1 2014 2014
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.010 None 1.000 1 2017 2017
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 367 10 0.010 None 1.000 1 2012 2012
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 0.010 None 1.000 1 2015 2015
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 234 4 0.010 None 1.000 1 2018 2018
CUI: C1563716
Disease: Thyroid Dysgenesis
Thyroid Dysgenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Congenital Abnormality 24 5 0.010 None 1.000 1 2015 2015
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 272 36 0.100 None 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 586 53 0.100 None 0 1
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 337 40 0.100 None 0 1
CUI: C0152421
Disease: Macrotia
Macrotia 		disease Congenital Abnormality 188 18 0.100 None 0
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases Congenital Abnormality 137 13 0.100 None 0 1
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Congenital Abnormality 171 12 0.100 None 0 1