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: C2363741
Disease: HIV-1 infection
HIV-1 infection 		disease Disease or Syndrome 695 94 0.010 None 1.000 1 2012 2012
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 112 6 0.010 None 1.000 1 2011 2011
CUI: C0432122
Disease: Interfrontal craniofaciosynostosis
Interfrontal craniofaciosynostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 7 2 0.010 None 1.000 1 2011 2011
CUI: C1619700
Disease: RENAL ADYSPLASIA
RENAL ADYSPLASIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 29 6 0.010 None 1.000 1 2011 2011
CUI: C1968949
Disease: Cakut
Cakut 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 72 8 0.010 None 1.000 1 2014 2014
CUI: C0019693
Disease: HIV Infections
HIV Infections 		group Infections; Immune System Diseases Disease or Syndrome 807 142 0.010 None 1.000 1 1 2012 2012
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		disease Hemic and Lymphatic Diseases Neoplastic Process 282 29 0.010 None 1.000 1 2019 2019
CUI: C0242473
Disease: Anus Prolapse
Anus Prolapse 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Acquired Abnormality 3 0.010 None 1.000 1 2011 2011
CUI: C1860819
Disease: Metopic synostosis
Metopic synostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 28 5 0.400 None 0
CUI: C2931150
Disease: Synostotic Anterior Plagiocephaly
Synostotic Anterior Plagiocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 16 0.300 None 0
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group Eye Diseases Disease or Syndrome 400 14 0.300 limited 0
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 488 90 0.300 None 0
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 43 8 0.300 None 0
CUI: C1833340
Disease: Synostotic Posterior Plagiocephaly
Synostotic Posterior Plagiocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 25 0.300 None 0
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 186 20 0.300 None 0
CUI: C0030044
Disease: Acrocephaly
Acrocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 35 0.300 None 0
CUI: C4551902
Disease: Craniosynostosis, Type 1
Craniosynostosis, Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 18 28 0.300 None 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 337 40 0.100 None 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 590 77 0.100 None 0
CUI: C0431447
Disease: Synophrys
Synophrys 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 111 23 0.100 None 0
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 89 6 0.100 None 0
CUI: C4022992
Disease: Abnormal respiratory system morphology
Abnormal respiratory system morphology 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C4023721
Disease: Abnormal hair pattern
Abnormal hair pattern 		disease Anatomical Abnormality 15 1 0.100 None 0
CUI: C4023905
Disease: Abnormality of the 5th toe
Abnormality of the 5th toe 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C1863872
Disease: Coloboma of superior eyelid
Coloboma of superior eyelid 		phenotype Disease or Syndrome 6 0.100 None 0