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: C0005859
Disease: Bloom Syndrome
Bloom Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 79 86 1.000 0.948 130 83 1981 2018
CUI: C0023418
Disease: leukemia
leukemia
disease Neoplasms Neoplastic Process 1940 76 0.420 1.000 2 2002 2005
CUI: C0024299
Disease: Lymphoma
Lymphoma
group Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 1306 61 0.410 1.000 1 2002 2002
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
group Hemic and Lymphatic Diseases; Neoplasms Neoplastic Process 556 37 0.400 strong 1 2017 2017
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
disease Neoplasms Neoplastic Process 1875 224 0.400 0
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease Congenital Abnormality 115 9 0.300 strong 2 1993 1998
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 1437 87 0.300 0
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 0.300 strong 0
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Congenital Abnormality; Disease or Syndrome 203 47 0.300 0
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 76 4866 0.100 26 9 1995 2017
CUI: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 2453 389 0.100 1.000 12 1999 2013
CUI: C0231341
Disease: Premature aging syndrome
Premature aging syndrome
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 91 3 0.100 0.917 12 1997 2016
CUI: C1849121
Disease: Thin face
Thin face
phenotype Finding 62 0.100 0
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation
phenotype Pathologic Function 277 6 0.100 0
CUI: C0041834
Disease: Erythema
Erythema
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 112 2 0.100 0
CUI: C0039075
Disease: Syndactyly
Syndactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 84 11 0.100 0
CUI: C1400105
Disease: Hypertrophy of nose
Hypertrophy of nose
phenotype Finding 42 0.100 0
CUI: C0030469
Disease: Paranasal Sinus Diseases
Paranasal Sinus Diseases
group Otorhinolaryngologic Diseases; Respiratory Tract Diseases Disease or Syndrome 43 1 0.100 0
CUI: C0037199
Disease: Sinusitis
Sinusitis
disease Otorhinolaryngologic Diseases; Respiratory Tract Diseases Disease or Syndrome 60 0.100 0
Immunoglobulin G subclass deficiency (finding)
phenotype Finding 27 0.100 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
disease Congenital Abnormality 158 2 0.100 0
Agenesis of maxillary lateral incisor
phenotype Finding 4 0.100 0
CUI: C1837463
Disease: Narrow face
Narrow face
phenotype Finding 62 0.100 0
CUI: C1305420
Disease: Prominent ear
Prominent ear
phenotype Congenital Abnormality 79 0.100 0
CUI: C0751688
Disease: Malignant Squamous Cell Neoplasm
Malignant Squamous Cell Neoplasm
disease Neoplasms Neoplastic Process 150 10 0.100 0