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: C3888099
Disease: Autosomal dominant vitreoretinochoroidopathy
Autosomal dominant vitreoretinochoroidopathy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 8 6 0.010 None 1.000 1 2009 2009
CUI: C0343641
Disease: Human papilloma virus infection
Human papilloma virus infection 		disease Infections Disease or Syndrome 429 42 0.010 None 1.000 1 2010 2010
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 74 120 0.010 None 1.000 1 2009 2009
CUI: C0334664
Disease: Mast Cell Neoplasm
Mast Cell Neoplasm 		disease Neoplasms Neoplastic Process 33 4 0.010 None 1.000 1 2015 2015
CUI: C0280451
Disease: de novo myelodysplastic syndromes
de novo myelodysplastic syndromes 		disease Hemic and Lymphatic Diseases Neoplastic Process 27 4 0.010 None 1.000 1 2017 2017
CUI: C0279645
Disease: Childhood Acute Monoblastic Leukemia
Childhood Acute Monoblastic Leukemia 		disease Neoplastic Process 19 5 0.010 None 1.000 1 2018 2018
CUI: C0279629
Disease: Adult Acute Monoblastic Leukemia
Adult Acute Monoblastic Leukemia 		disease Neoplasms Neoplastic Process 19 5 0.010 None 1.000 1 2018 2018
CUI: C0265264
Disease: Holt-Oram syndrome
Holt-Oram syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 28 69 0.010 None 1.000 1 2009 2009
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 182 9 0.010 None 1.000 1 2016 2016
CUI: C0232197
Disease: Fibrillation
Fibrillation 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 118 8 0.010 None 1.000 1 2011 2011
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		disease Neoplasms; Immune System Diseases Neoplastic Process 94 11 0.010 None 1.000 1 2018 2018
CUI: C0220621
Disease: Childhood Acute Myeloid Leukemia
Childhood Acute Myeloid Leukemia 		disease Neoplasms Neoplastic Process 215 6 0.010 None 1.000 1 2015 2015
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1598 96 0.010 None 1.000 1 2019 2019
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		disease Neoplasms Neoplastic Process 2438 563 0.010 None 1.000 1 2012 2012
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 670 283 0.010 None 1.000 1 2012 2012
CUI: C0040961
Disease: Tricuspid Valve Insufficiency
Tricuspid Valve Insufficiency 		disease Cardiovascular Diseases Disease or Syndrome 60 5 0.010 None 1.000 1 2011 2011
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 85 65 0.010 None < 0.001 1 2007 2007
CUI: C0457334
Disease: Acute monoblastic leukemia
Acute monoblastic leukemia 		disease Neoplasms Neoplastic Process 37 5 0.010 None 1.000 1 2018 2018
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 996 25 0.010 None 1.000 1 2015 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.010 None 1.000 1 2005 2005
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1674 99 0.010 None 1.000 1 2019 2019
CUI: C2939461
Disease: Myeloid neoplasm
Myeloid neoplasm 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 62 5 0.010 None 1.000 1 1 2018 2018
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.010 None 1.000 1 2015 2015
CUI: C1854978
Disease: Monosomy 7 of Bone Marrow
Monosomy 7 of Bone Marrow 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases Disease or Syndrome 5 1 0.010 None 1.000 1 1 2018 2018
CUI: C1834304
Disease: AMYOTROPHY, HEREDITARY NEURALGIC
AMYOTROPHY, HEREDITARY NEURALGIC 		disease Nervous System Diseases Disease or Syndrome 9 8 0.010 None 1.000 1 1998 1998