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: C0027819
Disease: Neuroblastoma
Neuroblastoma
group Neoplasms Neoplastic Process 1698 288 0.800 0.953 773 1 1985 2018
Oculodigitoesophagoduodenal syndrome
disease Behavior and Behavior Mechanisms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Mental Disorders; Musculoskeletal Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 3 9 0.750 1.000 12 9 1993 2015
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
disease Neoplasms Neoplastic Process 589 66 0.500 1.000 26 1 1989 2016
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: C0027708
Disease: Nephroblastoma
Nephroblastoma
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 370 33 0.350 1.000 6 1991 2017
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma
disease Neoplasms Neoplastic Process 92 1 0.310 1.000 2 2009 2009
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
disease Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 407 7 0.310 1.000 2 2014 2017
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma
disease Neoplasms Neoplastic Process 106 56 0.310 2 2006 2016
CUI: C0027540
Disease: Necrosis
Necrosis
phenotype Pathological Conditions, Signs and Symptoms Organ or Tissue Function 56 0.300 1 2011 2011
CUI: C0751291
Disease: Desmoplastic Medulloblastoma
Desmoplastic Medulloblastoma
disease Neoplasms Neoplastic Process 51 4 0.300 1 2009 2009
CUI: C0008625
Disease: Chromosome Aberrations
Chromosome Aberrations
group Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 16 0.300 1 2015 2015
CUI: C1275668
Disease: Melanotic medulloblastoma
Melanotic medulloblastoma
disease Neoplasms Neoplastic Process 43 0.300 1 2009 2009
CUI: C1368275
Disease: Pigmented Basal Cell Carcinoma
Pigmented Basal Cell Carcinoma
disease Neoplasms Neoplastic Process 28 0.300 1 2016 2016
CUI: C0007621
Disease: Neoplastic Cell Transformation
Neoplastic Cell Transformation
phenotype Neoplasms; Pathological Conditions, Signs and Symptoms Neoplastic Process 130 0.300 1 2013 2013
CUI: C0020507
Disease: Hyperplasia
Hyperplasia
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 122 0.300 1 2015 2015
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma
disease Neoplasms Neoplastic Process 207 29 0.300 1 2013 2013
CUI: C0004403
Disease: Autosome Abnormalities
Autosome Abnormalities
group Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 16 0.300 1 2015 2015
CUI: C0205833
Disease: Medullomyoblastoma
Medullomyoblastoma
disease Neoplasms Neoplastic Process 43 0.300 1 2009 2009
CUI: C2930471
Disease: Bilateral Wilms Tumor
Bilateral Wilms Tumor
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Disease or Syndrome 29 0.300 1 2017 2017
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma
disease Neoplasms Neoplastic Process 63 0.300 1 2009 2009
CUI: C0751483
Disease: Familial Retinoblastoma
Familial Retinoblastoma
disease Eye Diseases; Neoplasms Neoplastic Process 12 0.300 0
Esophageal atresia with or without tracheoesophageal fistula
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 27 8 0.300 0
CUI: C2931189
Disease: Neural crest tumor
Neural crest tumor
disease Endocrine System Diseases; Neoplasms Disease or Syndrome 13 0.300 0
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease Congenital Abnormality 115 9 0.300 strong 0
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease Neoplasms Neoplastic Process 1936 180 0.170 1.000 8 1 1989 2016