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: C1301365
Disease: Systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease
Systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 4 0.300 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: C4551862
Disease: Ophthalmoplegia, Progressive Supranuclear
Ophthalmoplegia, Progressive Supranuclear 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 6 0.300 None 1.000 1 2014 2014
CUI: C4551863
Disease: Supranuclear Palsy, Progressive, 1
Supranuclear Palsy, Progressive, 1 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 6 6 0.300 None 1.000 1 2014 2014
CUI: C1333046
Disease: Myeloproliferative Neoplasm, Unclassifiable
Myeloproliferative Neoplasm, Unclassifiable 		disease Neoplastic Process 8 3 0.010 None 1.000 1 2018 2018
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: C1737261
Disease: Acute myeloid leukaemia progression
Acute myeloid leukaemia progression 		disease Neoplastic Process 9 0.010 None 1.000 1 2012 2012
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
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: C0279645
Disease: Childhood Acute Monoblastic Leukemia
Childhood Acute Monoblastic Leukemia 		disease Neoplastic Process 19 5 0.010 None 1.000 1 2018 2018
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: 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: C0334664
Disease: Mast Cell Neoplasm
Mast Cell Neoplasm 		disease Neoplasms Neoplastic Process 33 4 0.010 None 1.000 1 2015 2015
CUI: C0457334
Disease: Acute monoblastic leukemia
Acute monoblastic leukemia 		disease Neoplasms Neoplastic Process 37 5 0.010 None 1.000 1 2018 2018
CUI: C2713368
Disease: Hematopoetic Myelodysplasia
Hematopoetic Myelodysplasia 		phenotype Hemic and Lymphatic Diseases Pathologic Function 38 0.200 None 0
CUI: C1301363
Disease: Blastic plasmacytoid dendritic cell neoplasm
Blastic plasmacytoid dendritic cell neoplasm 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 46 2 0.010 None 1.000 1 1 2018 2018
CUI: C0002894
Disease: Refractory anaemia with excess blasts
Refractory anaemia with excess blasts 		disease Hemic and Lymphatic Diseases Neoplastic Process 49 2 0.010 None 1.000 1 2014 2014
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: C0085702
Disease: Monocytosis
Monocytosis 		disease Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 61 3 0.020 None 1.000 2 2014 2016
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: C1963099
Disease: Myelodysplasia, CTCAE
Myelodysplasia, CTCAE 		phenotype Finding 68 0.100 None 0
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: 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: C0879615
Disease: Stromal Neoplasm
Stromal Neoplasm 		disease Neoplasms Neoplastic Process 86 1 0.010 None 1.000 1 2013 2013
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome; Congenital Abnormality 90 91 0.010 None 1.000 1 2000 2000