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: 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 1.000 definitive 0.957 224 54 2001 2018
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 28 22 1.000 definitive 0.962 78 14 2002 2017
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
disease Hemic and Lymphatic Diseases; Neoplasms Neoplastic Process 120 37 1.000 0.956 61 17 2003 2017
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 0.900 0.968 113 44 1993 2018
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 1702 215 0.800 1.000 18 4 1989 2017
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 327 287 0.700 limited 1.000 19 2 2002 2016
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Neoplasms Disease or Syndrome 3 20 0.640 1.000 7 20 2010 2016
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Congenital Abnormality 7 47 0.500 16 37 2001 2018
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
group Neoplasms Neoplastic Process 1698 288 0.460 1.000 8 4 2005 2017
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
disease Neoplasms Neoplastic Process 740 44 0.410 1.000 3 2 2004 2016
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis
disease Musculoskeletal Diseases Disease or Syndrome 9 2 0.410 < 0.001 2 2010 2011
CUI: C0023418
Disease: leukemia
leukemia
disease Neoplasms Neoplastic Process 1940 76 0.400 0.931 30 2 1991 2017
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
group Hemic and Lymphatic Diseases; Neoplasms Neoplastic Process 556 37 0.380 strong 1.000 9 1 2004 2017
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Congenital Abnormality 13 56 0.360 0.833 7 2002 2010
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 209 368 0.350 strong 1.000 6 1996 2010
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
group Hemic and Lymphatic Diseases Neoplastic Process 682 53 0.350 1.000 5 2003 2009
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 28 19 0.340 1.000 5 2003 2016
CUI: C0023480
Disease: Leukemia, Myelomonocytic, Chronic
Leukemia, Myelomonocytic, Chronic
disease Hemic and Lymphatic Diseases; Neoplasms Neoplastic Process 107 36 0.310 1.000 3 9 2003 2016
CUI: C0024454
Disease: Maffucci Syndrome
Maffucci Syndrome
disease Musculoskeletal Diseases Disease or Syndrome 4 1 0.310 < 0.001 2 2010 2011
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
disease Neoplasms Neoplastic Process 121 3 0.310 1.000 2 2009 2013
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
group Neoplasms Neoplastic Process 1711 67 0.310 1.000 2 1 2015 2016
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
disease Neoplasms Neoplastic Process 1875 224 0.310 1.000 2 2013 2016
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Hemic and Lymphatic Diseases; Immune System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 102 2 0.300 strong 9 2001 2009
CUI: C1527404
Disease: Female Pseudo-Turner Syndrome
Female Pseudo-Turner Syndrome
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 11 0.300 4 2004 2007
CUI: C0158995
Disease: Congenital anemia
Congenital anemia
disease Disease or Syndrome 208 0.300 limited 2 2003 2004