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: C0344787
Disease: Complete atrioventricular septal defect
Complete atrioventricular septal defect 		disease Congenital Abnormality 1 0.010 None 1.000 1 2013 2013
CUI: C0795812
Disease: Chromosome 4, trisomy 4q
Chromosome 4, trisomy 4q 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 0.010 None 1.000 1 2005 2005
CUI: C0795868
Disease: Chromosome 18, tetrasomy 18p
Chromosome 18, tetrasomy 18p 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 0.010 None 1.000 1 2010 2010
CUI: C0795939
Disease: AMINOPTERIN SYNDROME SINE AMINOPTERIN
AMINOPTERIN SYNDROME SINE AMINOPTERIN 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 0.010 None < 0.001 1 2012 2012
CUI: C4512053
Disease: 4p16.3 microduplication syndrome
4p16.3 microduplication syndrome 		disease Disease or Syndrome 1 0.010 None 1.000 1 2008 2008
CUI: C4520921
Disease: Stage 0 Gastric Cancer AJCC v6 and v7
Stage 0 Gastric Cancer AJCC v6 and v7 		disease Neoplastic Process 1 0.010 None 1.000 1 2010 2010
CUI: C4707448
Disease: Ring chromosome 2 syndrome
Ring chromosome 2 syndrome 		disease Disease or Syndrome 1 0.010 None 1.000 1 2015 2015
CUI: C0265931
Disease: Persistent left superior vena cava
Persistent left superior vena cava 		disease Congenital Abnormality 2 0.010 None 1.000 1 2020 2020
CUI: C0302246
Disease: Hexadactyly
Hexadactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 2 0.010 None 1.000 1 2013 2013
CUI: C0795805
Disease: Chromosome 2, trisomy 2q
Chromosome 2, trisomy 2q 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 2 0.010 None 1.000 1 2005 2005
CUI: C1332582
Disease: Primary bone lymphoma
Primary bone lymphoma 		disease Neoplasms; Musculoskeletal Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 2 0.010 None 1.000 1 2010 2010
CUI: C1842464
Disease: Nablus mask-like facial syndrome
Nablus mask-like facial syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome 2 0.010 None 1.000 1 2009 2009
CUI: C1865644
Disease: Plantar Lipomatosis, Unusual Facies, and Developmental Delay
Plantar Lipomatosis, Unusual Facies, and Developmental Delay 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Mental Disorders Disease or Syndrome 2 4 0.010 None 1.000 1 2011 2011
CUI: C2674949
Disease: Chromosome 3q29 Deletion Syndrome
Chromosome 3q29 Deletion Syndrome 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 2 0.010 None 1.000 1 2009 2009
CUI: C0220730
Disease: Fryns syndrome
Fryns syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 3 0.010 None 1.000 1 2005 2005
CUI: C0740409
Disease: Psychotic behaviour
Psychotic behaviour 		disease Mental or Behavioral Dysfunction 3 0.010 None 1.000 1 2015 2015
CUI: C0795822
Disease: Recombinant chromosome 8 syndrome
Recombinant chromosome 8 syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 3 0.010 None 1.000 1 2013 2013
CUI: C0795855
Disease: Ring chromosome 15 syndrome
Ring chromosome 15 syndrome 		disease Disease or Syndrome 3 0.010 None 1.000 1 2018 2018
CUI: C0854893
Disease: Angiosarcoma non-metastatic
Angiosarcoma non-metastatic 		disease Neoplasms; Cardiovascular Diseases Neoplastic Process 3 0.010 None 1.000 1 2015 2015
CUI: C4266451
Disease: Fetal abnormality
Fetal abnormality 		disease Congenital Abnormality 3 0.010 None 1.000 1 2008 2008
CUI: C0265428
Disease: Chromosome 9, partial trisomy 9p
Chromosome 9, partial trisomy 9p 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 4 0.020 None 1.000 2 2011 2012
CUI: C0221215
Disease: Common atrioventricular canal
Common atrioventricular canal 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 4 2 0.010 None 1.000 1 2013 2013
CUI: C0796032
Disease: Malpuech facial clefting syndrome
Malpuech facial clefting syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular Diseases Disease or Syndrome 4 3 0.010 None 1.000 1 2007 2007
CUI: C1623209
Disease: Okihiro Syndrome
Okihiro Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 4 11 0.010 None 1.000 1 2013 2013
CUI: C1864652
Disease: Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 4 18 0.010 None 1.000 1 2015 2015