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: C0037579
Disease: Soft Tissue Neoplasms
Soft Tissue Neoplasms
group Neoplasms Neoplastic Process 145 0.010 None 1.000 1 2020 2020
CUI: C1710026
Disease: Sclerosing Epithelioid Fibrosarcoma
Sclerosing Epithelioid Fibrosarcoma
disease Neoplasms Neoplastic Process 16 0.010 None 1.000 1 2020 2020
CUI: C4721414
Disease: Mantle cell lymphoma
Mantle cell lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 466 19 0.010 None 1.000 1 2019 2019
CUI: C0431420
Disease: Vein of Galen aneurysm
Vein of Galen aneurysm
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 6 0.010 None 1.000 1 2019 2019
CUI: C0028860
Disease: Oculocerebrorenal Syndrome
Oculocerebrorenal Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 54 42 0.010 None 1.000 1 2019 2019
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm
group Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2492 85 0.010 None 1.000 1 2019 2019
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma
disease Neoplasms Neoplastic Process 325 30 0.010 None 1.000 1 2019 2019
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 718 159 0.010 None 1.000 1 2019 2019
CUI: C0011303
Disease: Demyelinating Diseases
Demyelinating Diseases
group Nervous System Diseases Disease or Syndrome 156 5 0.010 None 1.000 1 2019 2019
CUI: C0497327
Disease: Dementia
Dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 816 176 0.010 None 1.000 1 2019 2019
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas
group Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1408 42 0.010 None 1.000 1 2019 2019
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease Nervous System Diseases Disease or Syndrome 473 37 0.010 None 1.000 1 2019 2019
Leukoencephalopathy, Progressive Multifocal
disease Infections; Nervous System Diseases Disease or Syndrome 240 4 0.010 None 1.000 1 2019 2019
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
group Nervous System Diseases Disease or Syndrome 977 39 0.010 None 1.000 1 2019 2019
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site
disease Disease or Syndrome 467 14 0.010 None 1.000 1 2019 2019
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 393 14 0.010 None 1.000 1 2019 2019
CUI: C0278879
Disease: Childhood Burkitt Lymphoma
Childhood Burkitt Lymphoma
disease Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 477 7 0.010 None 1.000 1 2019 2019
CUI: C0334121
Disease: Inflammatory Myofibroblastic Tumor
Inflammatory Myofibroblastic Tumor
disease Pathological Conditions, Signs and Symptoms Neoplastic Process 92 2 0.010 None 1.000 1 2019 2019
CUI: C0278764
Disease: Adult Burkitt Lymphoma
Adult Burkitt Lymphoma
disease Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 475 7 0.010 None 1.000 1 2019 2019
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 505 98 0.010 None 1.000 1 2019 2019
CUI: C0334459
Disease: Infantile fibrosarcoma
Infantile fibrosarcoma
disease Neoplasms Neoplastic Process 17 0.010 None 1.000 1 2019 2019
CUI: C1332965
Disease: Congenital Mesoblastic Nephroma
Congenital Mesoblastic Nephroma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 42 5 0.010 None 1.000 1 2019 2019
CUI: C1266119
Disease: Solitary fibrous tumor
Solitary fibrous tumor
disease Neoplasms Neoplastic Process 58 0.010 None 1.000 1 2019 2019
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 296 9 0.010 None 1.000 1 2019 2019
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 9 53 0.010 None < 0.001 1 2019 2019