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: C1512127
Disease: HER2 gene amplification
HER2 gene amplification 		disease Disease or Syndrome 170 14 0.010 None 1.000 1 1990 1990
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia 		disease Neoplasms Neoplastic Process 651 21 0.010 None 1.000 1 1990 1990
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2841 327 0.010 None 1.000 1 1993 1993
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2563 315 0.010 None 1.000 1 1993 1993
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2542 757 0.010 None 1.000 1 1993 1993
CUI: C0346156
Disease: Benign neoplasm of breast
Benign neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 46 0.010 None 1.000 1 1996 1996
CUI: C0279565
Disease: Invasive Lobular Breast Carcinoma
Invasive Lobular Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 88 0.010 None 1.000 1 1996 1996
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.030 None 1.000 3 1992 1997
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 255 282 0.010 None 1.000 1 1997 1997
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		phenotype Anatomical Abnormality 78 37 0.010 None 1.000 1 1997 1997
CUI: C0432272
Disease: Van Buchem disease
Van Buchem disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 24 2 0.010 None 1.000 1 1998 1998
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 48 61 0.010 None 1.000 1 1998 1998
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.010 None 1.000 1 2002 2002
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 1175 145 0.020 None 1.000 2 2002 2005
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 949 103 0.020 None 1.000 2 2002 2005
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 1164 135 0.020 None 1.000 2 2002 2005
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 580 308 0.010 None < 0.001 1 2008 2008
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1236 1451 0.010 None < 0.001 1 2009 2009
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		disease Mental Disorders Mental or Behavioral Dysfunction 641 225 0.010 None 1.000 1 2009 2009
CUI: C0085159
Disease: Seasonal Affective Disorder
Seasonal Affective Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 57 17 0.320 None 1.000 2 1 2011 2012
CUI: C0871610
Disease: winter depression
winter depression 		disease Mental or Behavioral Dysfunction 9 5 0.010 None 1.000 1 1 2012 2012
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		disease Anatomical Abnormality 148 18 0.010 None 1.000 1 2014 2014
CUI: C0020541
Disease: Portal Hypertension
Portal Hypertension 		disease Digestive System Diseases Disease or Syndrome 167 9 0.200 None 1.000 1 2014 2014
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		group Eye Diseases Disease or Syndrome 714 56 0.010 None 1.000 1 2014 2014
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.010 None 1.000 1 2014 2014