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: 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: C0017636
Disease: Glioblastoma
Glioblastoma 		disease Neoplasms Neoplastic Process 3177 281 0.050 None 1.000 5 2001 2017
CUI: C4551972
Disease: Mosaic variegated aneuploidy syndrome
Mosaic variegated aneuploidy syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome 5 0.050 None 1.000 5 2006 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.040 None 1.000 4 2000 2007
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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.040 None 1.000 4 2000 2007
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		disease Neoplasms Neoplastic Process 3197 186 0.040 None 1.000 4 2013 2017
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: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.330 None 0.750 4 2002 2018
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		disease Neoplasms Neoplastic Process 2507 257 0.030 None 1.000 3 2010 2015
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: 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: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1286 214 0.030 None 0.667 3 2008 2013
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: C0033300
Disease: Progeria
Progeria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 118 41 0.020 None 1.000 2 2018 2020
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 565 20 0.420 None 1.000 2 2006 2012
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 1164 135 0.020 None 1.000 2 2002 2008
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1287 272 0.020 None 0.500 2 2009 2013
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: C0206656
Disease: Embryonal Rhabdomyosarcoma
Embryonal Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 121 8 0.320 None 1.000 2 2004 2006
CUI: C0220611
Disease: Childhood Rhabdomyosarcoma
Childhood Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 517 12 0.020 None 1.000 2 2006 2012
CUI: C0231341
Disease: Premature aging syndrome
Premature aging syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 136 5 0.020 None 1.000 2 2008 2015
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4173 1142 0.020 None 1.000 2 2001 2002
CUI: C0278704
Disease: Malignant Childhood Neoplasm
Malignant Childhood Neoplasm 		disease Neoplasms Neoplastic Process 179 34 0.020 None 1.000 2 2009 2011