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: C1847827
Disease: LIG4 Syndrome
LIG4 Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Musculoskeletal Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 2 10 0.990 1.000 24 10 1999 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.400 strong 0
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 234 3 0.360 strong 1.000 6 2006 2016
CUI: C0023418
Disease: leukemia
leukemia
disease Neoplasms Neoplastic Process 1940 76 0.340 1.000 4 1 1999 2014
CUI: C0175691
Disease: Dubowitz syndrome
Dubowitz syndrome
disease Behavior and Behavior Mechanisms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders; Musculoskeletal Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 7 0.310 1.000 1 2013 2013
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
disease Cardiovascular Diseases; Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 1311 784 0.310 1.000 1 2003 2003
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease Congenital Abnormality 115 9 0.300 strong 1 2002 2002
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
group Hemic and Lymphatic Diseases; Neoplasms Neoplastic Process 556 37 0.300 strong 1 2017 2017
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 31 31 0.300 0
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 216 30 0.190 1.000 9 2000 2016
CUI: C0024299
Disease: Lymphoma
Lymphoma
group Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 1306 61 0.130 1.000 3 1985 2012
CUI: C0878787
Disease: Growth failure
Growth failure
phenotype Disease or Syndrome 211 3 0.120 1.000 2 2014 2015
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1101 21 0.120 1.000 2 1 2002 2006
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 115 2 0.110 1.000 1 2014 2014
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 506 827 0.100 9 2 2002 2016
CUI: C1849121
Disease: Thin face
Thin face
phenotype Finding 62 0.100 0
CUI: C0259817
Disease: Xerosis
Xerosis
disease Disease or Syndrome 103 1 0.100 0
CUI: C1857206
Disease: Sparse lateral eyebrow
Sparse lateral eyebrow
phenotype Finding 14 0.100 0
CUI: C1848765
Disease: Sparse/absent eyebrows
Sparse/absent eyebrows
phenotype Finding 45 0.100 0
CUI: C0268000
Disease: Body fluid retention
Body fluid retention
phenotype Pathologic Function 58 0.100 0
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet
phenotype Finding 102 3 0.100 0
CUI: C0151686
Disease: Growth retardation
Growth retardation
phenotype Pathologic Function 167 0.100 0
CUI: C0277828
Disease: Late fontanel closure
Late fontanel closure
phenotype Finding 41 0.100 0
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
disease Neoplastic Process 491 26 0.100 0
CUI: C1855285
Disease: Protruding ear
Protruding ear
phenotype Finding 77 0.100 0