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: C1850343
Disease: Mosaic variegated aneuploidy syndrome 1
Mosaic variegated aneuploidy syndrome 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 10 20 1.000 definitive 1.000 14 18 2004 2019
CUI: C1864389
Disease: PREMATURE CHROMATID SEPARATION TRAIT
PREMATURE CHROMATID SEPARATION TRAIT 		disease Disease or Syndrome 19 10 0.640 None 1.000 4 9 2006 2014
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.540 None 1.000 4 1 2002 2016
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 565 20 0.420 None 1.000 2 2006 2012
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.410 None 1.000 2 2004 2019
CUI: C4733331
Disease: mosaic variegated aneuploidy
mosaic variegated aneuploidy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome 7 0.400 limited 1.000 13 2006 2020
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.330 None 0.750 4 2002 2018
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 1296 609 0.330 None 1.000 3 2002 2009
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2053 329 0.330 None 1.000 3 2008 2018
CUI: C0206656
Disease: Embryonal Rhabdomyosarcoma
Embryonal Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 121 8 0.320 None 1.000 2 2004 2006
CUI: C2931286
Disease: Warburton Anyane Yeboa syndrome
Warburton Anyane Yeboa syndrome 		phenotype 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 5 0.300 None 1.000 1 2004 2004
CUI: C0205852
Disease: Neoplasms, Embryonal and Mixed
Neoplasms, Embryonal and Mixed 		disease Neoplasms Neoplastic Process 15 0.300 None 1.000 1 2017 2017
CUI: C0205851
Disease: Germ cell tumor
Germ cell tumor 		disease Neoplasms Neoplastic Process 278 5 0.300 None 1.000 1 2017 2017
CUI: C0018273
Disease: Growth Disorders
Growth Disorders 		group Pathological Conditions, Signs and Symptoms Pathologic Function 39 0.300 None 1.000 1 2004 2004
CUI: C2931383
Disease: Chromosomal mosaicism due to mitotic instability
Chromosomal mosaicism due to mitotic instability 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities Cell or Molecular Dysfunction 3 0.300 None 1.000 1 2004 2004
CUI: C0740345
Disease: Germ Cell Cancer
Germ Cell Cancer 		disease Neoplasms Neoplastic Process 44 0.300 None 1.000 1 2017 2017
CUI: C3853041
Disease: Severe Congenital Microcephaly
Severe Congenital Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome; Congenital Abnormality 35 0.300 None 1.000 1 2004 2004
CUI: C0751364
Disease: Cancer, Embryonal
Cancer, Embryonal 		phenotype Neoplasms Neoplastic Process 18 0.300 None 1.000 1 2017 2017
CUI: C0751365
Disease: Cancer, Embryonal and Mixed
Cancer, Embryonal and Mixed 		disease Neoplasms Neoplastic Process 15 0.300 None 1.000 1 2017 2017
CUI: C0027654
Disease: Embryonal Neoplasm
Embryonal Neoplasm 		disease Neoplasms Neoplastic Process 57 2 0.300 None 1.000 1 2017 2017
CUI: C0027658
Disease: Neoplasms, Germ Cell and Embryonal
Neoplasms, Germ Cell and Embryonal 		group Neoplasms Neoplastic Process 34 0.300 None 1.000 1 2017 2017
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 40 1 0.300 None 1.000 1 2004 2004
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		disease Digestive System Diseases; Neoplasms Neoplastic Process 3806 615 0.130 None 1.000 3 2003 2014
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 615 45 0.120 None 1.000 2 2019 2019
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 137 9 0.110 None 1.000 1 2011 2011