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: C1855425
Disease: Marles Greenberg Persaud syndrome
Marles Greenberg Persaud syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome 3 3 0.750 None 0.875 8 3 2001 2017
CUI: C2750433
Disease: Bifid Nose With Or Without Anorectal And Renal Anomalies
Bifid Nose With Or Without Anorectal And Renal Anomalies 		disease Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1 2 0.720 None 0.800 5 2 2001 2014
CUI: C0265233
Disease: Cryptophthalmos syndrome
Cryptophthalmos syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome 8 5 0.240 None 1.000 4 2011 2018
CUI: C4303547
Disease: BNAR syndrome
BNAR syndrome 		disease Disease or Syndrome 3 0.030 None 0.667 3 2011 2013
CUI: C0265425
Disease: 9p partial monosomy syndrome
9p partial monosomy syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 0.200 None 1.000 3 2004 2011
CUI: C0478099
Disease: Other deletions of part of a chromosome
Other deletions of part of a chromosome 		disease Congenital Abnormality 2 0.200 None 1.000 3 2004 2011
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 239 31 0.320 None 1.000 3 2013 2018
CUI: C0795830
Disease: CHROMOSOME 9p DELETION SYNDROME
CHROMOSOME 9p DELETION SYNDROME 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 5 0.200 None 1.000 3 2004 2011
CUI: C0019284
Disease: Diaphragmatic Hernia
Diaphragmatic Hernia 		phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 78 3 0.210 None 1.000 3 2013 2016
CUI: C0265700
Disease: Congenital hernia of foramen of Bochdalek
Congenital hernia of foramen of Bochdalek 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 21 0.300 None 1.000 2 2013 2016
CUI: C0266294
Disease: Unilateral agenesis of kidney
Unilateral agenesis of kidney 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 69 7 0.300 None 1.000 2 2010 2014
CUI: C0265699
Disease: Congenital hernia of foramen of Morgagni
Congenital hernia of foramen of Morgagni 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 19 0.300 None 1.000 2 2013 2016
CUI: C1609433
Disease: Congenital absence of kidneys syndrome
Congenital absence of kidneys syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 110 0.410 None 1.000 2 2011 2013
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: 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: C3887497
Disease: Bifid Nose, Autosomal Recessive
Bifid Nose, Autosomal Recessive 		disease Respiratory Tract Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 1 0.300 None 1.000 1 2013 2013
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: C2751431
Disease: Bifid Nose, Autosomal Dominant
Bifid Nose, Autosomal Dominant 		disease Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 0.300 None 1.000 1 2013 2013
CUI: C1305855
Disease: Body mass index
Body mass index 		phenotype Clinical Attribute 1014 2689 0.100 None 1.000 1 1 2019 2019
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection 		disease Disease or Syndrome 695 94 0.010 None 1.000 1 2012 2012
CUI: C0542519
Disease: Congenital absence of kidney
Congenital absence of kidney 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 33 3 0.010 None 1.000 1 2011 2011
CUI: C0578022
Disease: Finding of body mass index
Finding of body mass index 		phenotype Finding 88 252 0.100 None 1.000 1 1 2013 2013
CUI: C0521573
Disease: Coloboma of eyelid
Coloboma of eyelid 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 28 0.110 None 1.000 1 2013 2013
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 1756 711 0.100 None 1.000 1 1 2019 2019