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: C1836184
Disease: Short femoral neck
Short femoral neck 		phenotype Finding 31 0.100 None 0
CUI: C0003803
Disease: Arnold Chiari Malformation
Arnold Chiari Malformation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 53 4 0.100 None 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 725 80 0.100 None 0
CUI: C1838705
Disease: Anteriorly placed anus
Anteriorly placed anus 		phenotype Finding 34 5 0.100 None 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.300 None 1.000 1 2011 2011
CUI: C0014170
Disease: Endometrial Neoplasms
Endometrial Neoplasms 		group Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 261 32 0.300 None 1.000 1 2012 2012
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1377 72 0.010 None 1.000 1 2015 2015
CUI: C0279000
Disease: Liver and Intrahepatic Biliary Tract Carcinoma
Liver and Intrahepatic Biliary Tract Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1395 73 0.010 None 1.000 1 2015 2015
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.010 None 1.000 1 2015 2015
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia 		disease Neoplasms Neoplastic Process 633 22 0.010 None 1.000 1 2015 2015
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1649 88 0.010 None 1.000 1 2015 2015
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease Neoplasms Neoplastic Process 3111 6892 0.010 None 1.000 1 2015 2015
CUI: C4310688
Disease: SIFRIM-HITZ-WEISS SYNDROME
SIFRIM-HITZ-WEISS SYNDROME 		disease Disease or Syndrome 1 7 0.600 None 1.000 2 7 2016 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2016 2016
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 115 1 0.010 None 1.000 1 2016 2016
CUI: C0279613
Disease: Childhood Alveolar Rhabdomyosarcoma
Childhood Alveolar Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 59 0.010 None 1.000 1 2016 2016
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 251 350 0.100 None 1.000 9 2 2010 2017
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 9 2 2010 2017
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		phenotype Neoplastic Process 1027 20 0.010 None 1.000 1 2017 2017
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.010 None 1.000 1 2017 2017
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.010 None 1.000 1 2017 2017
CUI: C3888194
Disease: MIXED LINEAGE LEUKEMIA
MIXED LINEAGE LEUKEMIA 		disease Neoplastic Process 240 2 0.010 None 1.000 1 2017 2017
CUI: C0017638
Disease: Glioma
Glioma 		disease Neoplasms Neoplastic Process 3097 353 0.010 None 1.000 1 2017 2017
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		group Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2492 85 0.010 None 1.000 1 2017 2017