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: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
disease Hemic and Lymphatic Diseases; Neoplasms Neoplastic Process 120 37 0.800 1.000 28 4 1985 2017
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 60 129 0.770 definitive 1.000 13 2 2004 2015
CUI: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 2453 389 0.700 0.956 273 10 1988 2018
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 1702 215 0.700 0.964 64 7 1985 2017
CUI: C1842036
Disease: GIANT PIGMENTED HAIRY NEVUS
GIANT PIGMENTED HAIRY NEVUS
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 4 3 0.700 6 3 1987 2014
CUI: C3854181
Disease: Nevus sebaceous
Nevus sebaceous
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome 11 9 0.700 1 4 2012 2012
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
disease Digestive System Diseases; Neoplasms Neoplastic Process 3298 955 0.600 0.955 22 2 1993 2018
CUI: C2750732
Disease: Noonan Syndrome 6
Noonan Syndrome 6
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 1 3 0.600 9 3 1985 2015
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
disease Neoplasms Disease or Syndrome 11 12 0.600 7 3 2003 2014
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
disease Disease or Syndrome 4 4 0.600 6 1 1985 2011
CUI: C0544862
Disease: Neurocutaneous melanosis
Neurocutaneous melanosis
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Skin and Connective Tissue Diseases Pathologic Function 1 2 0.600 5 2 2003 2014
CUI: C0206739
Disease: Epithelioid and spindle cell nevus
Epithelioid and spindle cell nevus
disease Neoplasms Neoplastic Process 9 3 0.510 1.000 3 3 2005 2013
CUI: C0007113
Disease: Rectal Carcinoma
Rectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 275 68 0.510 1.000 2 1987 2014
CUI: C0023418
Disease: leukemia
leukemia
disease Neoplasms Neoplastic Process 1940 76 0.500 0.947 20 2 1984 2015
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 300 203 0.500 0.842 20 7 2000 2018
CUI: C0346099
Disease: Nevus spilus
Nevus spilus
disease Neoplastic Process 2 3 0.500 2 3 2009 2013
Nevus, Keratinocytic, Nonepidermolytic
disease Neoplasms Neoplastic Process 4 6 0.500 1 3 2012 2012
CUI: C0265329
Disease: Organoid Nevus Phakomatosis
Organoid Nevus Phakomatosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 4 4 0.500 0
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
disease Cardiovascular Diseases; Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 1311 784 0.490 0.889 10 7 1995 2016
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
group Neoplasms Neoplastic Process 1698 288 0.470 1.000 9 1 2002 2017
CUI: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma
disease Neoplasms Neoplastic Process 166 20 0.450 1.000 10 1 1995 2016
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
disease Endocrine System Diseases; Neoplasms Neoplastic Process 475 35 0.450 1.000 6 2 2003 2017
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
disease Hemic and Lymphatic Diseases; Neoplasms Neoplastic Process 875 64 0.440 1.000 6 1 1990 2015
CUI: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 52 64 0.440 1.000 5 4 1993 2014
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 2242 362 0.430 1.000 13 5 1984 2015