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: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 3 15 0.700 limited 1.000 12 15 2003 2017
CUI: C4021206
Disease: Chromosomal breakage induced by ionizing radiation
Chromosomal breakage induced by ionizing radiation 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 6 0.100 None 0
CUI: C4012790
Disease: Ataxia-Telangiectasisa-Like Disorder 1
Ataxia-Telangiectasisa-Like Disorder 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 11 15 0.010 None 1.000 1 2012 2012
CUI: C1858391
Disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER
ATAXIA-TELANGIECTASIA-LIKE DISORDER 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 12 13 0.010 None 1.000 1 2012 2012
CUI: C1303073
Disease: Nicolaides Baraitser syndrome
Nicolaides Baraitser syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 18 38 0.010 None 1.000 1 2001 2001
CUI: C0281842
Disease: Abnormality of the fallopian tube
Abnormality of the fallopian tube 		phenotype Anatomical Abnormality 22 0.100 None 0
CUI: C1096616
Disease: Contralateral breast cancer
Contralateral breast cancer 		disease Neoplastic Process 24 4 0.010 None 1.000 1 2012 2012
CUI: C3854434
Disease: Bone marrow infiltration
Bone marrow infiltration 		disease Hemic and Lymphatic Diseases Disease or Syndrome 36 3 0.010 None 1.000 1 2015 2015
CUI: C1514428
Disease: Primary peritoneal carcinoma
Primary peritoneal carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 49 0.100 None 0
CUI: C1333600
Disease: Hereditary Malignant Neoplasm
Hereditary Malignant Neoplasm 		disease Neoplasms Neoplastic Process 63 18 0.010 None 1.000 1 2008 2008
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases Neoplastic Process 74 2117 0.300 None 1.000 2 2003 2011
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 88 6387 0.100 None 1.000 31 164 1999 2017
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		disease Nutritional and Metabolic Diseases Disease or Syndrome 94 144 0.100 None 1.000 10 1998 2018
CUI: C1367654
Disease: Marginal Zone B-Cell Lymphoma
Marginal Zone B-Cell Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 124 25 0.010 None 1.000 1 2009 2009
CUI: C1827849
Disease: IgE-mediated allergic asthma
IgE-mediated allergic asthma 		disease Immune System Diseases Disease or Syndrome 133 46 0.020 None 1.000 2 1 2011 2015
CUI: C0020490
Disease: Hyperopia
Hyperopia 		disease Eye Diseases Disease or Syndrome 142 29 0.100 None 0
CUI: C0007130
Disease: Mucinous Adenocarcinoma
Mucinous Adenocarcinoma 		disease Neoplasms Neoplastic Process 159 10 0.010 None 1.000 1 2015 2015
CUI: C0023051
Disease: Laryngeal Diseases
Laryngeal Diseases 		group Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 159 7 0.010 None 1.000 1 2013 2013
CUI: C1867441
Disease: Pterygium Of Conjunctiva And Cornea
Pterygium Of Conjunctiva And Cornea 		disease Eye Diseases Disease or Syndrome 169 4 0.010 None 1.000 1 2011 2011
CUI: C4520843
Disease: Pterygium of eye
Pterygium of eye 		disease Eye Diseases Disease or Syndrome 169 4 0.010 None 1.000 1 2011 2011
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 183 91 0.340 limited 0.714 7 2003 2017
CUI: C0262584
Disease: Carcinoma, Small Cell
Carcinoma, Small Cell 		disease Neoplasms Neoplastic Process 185 7 0.010 None 1.000 1 2014 2014
CUI: C4049446
Disease: Neointimal hyperplasia
Neointimal hyperplasia 		disease Disease or Syndrome 198 0.010 None 1.000 1 2003 2003
CUI: C0033999
Disease: Pterygium
Pterygium 		disease Eye Diseases Disease or Syndrome 216 5 0.010 None 1.000 1 2011 2011
CUI: C0026470
Disease: Monoclonal Gammopathy of Undetermined Significance
Monoclonal Gammopathy of Undetermined Significance 		disease Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 227 20 0.010 None 1.000 1 2015 2015