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: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 111 7 0.330 None 0.667 3 1997 2001
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.430 None 1.000 3 2001 2013
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 274 83 0.120 None 1.000 2 2001 2001
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 31 2 0.320 None 1.000 2 1999 2001
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 61 21 0.020 None 1.000 2 1997 1999
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 46 3 0.320 None 0.500 2 1998 2001
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 406 58 0.300 None 1.000 1 1999 1999
CUI: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 644 23 0.010 None 1.000 1 2018 2018
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.010 None 1.000 1 2013 2013
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 607 47 0.010 None 1.000 1 2013 2013
CUI: C0007097
Disease: Carcinoma
Carcinoma 		group Neoplasms Neoplastic Process 2462 103 0.010 None 1.000 1 2005 2005
CUI: C0266427
Disease: Testicular regression syndrome
Testicular regression syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 37 3 0.010 None 1.000 1 2018 2018
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 234 4 0.300 None 1.000 1 1999 1999
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2969 688 0.010 None 1.000 1 2011 2011
CUI: C0206725
Disease: Subependymal Glioma
Subependymal Glioma 		disease Neoplasms Neoplastic Process 13 0.010 None 1.000 1 2007 2007
CUI: C0205769
Disease: Myxopapillary ependymoma
Myxopapillary ependymoma 		disease Neoplasms Neoplastic Process 12 0.010 None 1.000 1 2007 2007
CUI: C0023418
Disease: leukemia
leukemia 		disease Neoplasms Neoplastic Process 2111 144 0.010 None 1.000 1 2018 2018
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		disease Neoplasms Neoplastic Process 1740 140 0.010 None 1.000 1 2018 2018
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2832 275 0.010 None 1.000 1 2011 2011
CUI: C0795907
Disease: CONOTRUNCAL ANOMALY FACE SYNDROME
CONOTRUNCAL ANOMALY FACE SYNDROME 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 18 0.300 None 0
CUI: C0702166
Disease: Acne
Acne 		disease Skin and Connective Tissue Diseases Disease or Syndrome 167 11 0.100 None 0
CUI: C0521525
Disease: Short neck
Short neck 		phenotype Finding 288 29 0.100 None 0
CUI: C0546967
Disease: Posterior embryotoxon
Posterior embryotoxon 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 44 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0685891
Disease: Congenital hypoplasia of thymus
Congenital hypoplasia of thymus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 34 0.100 None 0