Source: ALL
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: C4551774
Disease: FEINGOLD SYNDROME 1
FEINGOLD SYNDROME 1 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 2 12 0.710 None 0.750 4 12 2005 2018
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		disease Neoplasms Neoplastic Process 2509 386 0.700 None 0.971 940 3 1984 2020
CUI: C0796068
Disease: Oculodigitoesophagoduodenal syndrome
Oculodigitoesophagoduodenal syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 6 1 0.650 None 1.000 8 1 1997 2012
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		disease Neoplasms Neoplastic Process 862 115 0.500 None 0.971 34 2 1989 2019
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		disease Neoplasms Neoplastic Process 771 25 0.400 None 0.962 26 1 1989 2019
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma 		disease Neoplasms Neoplastic Process 762 24 0.400 None 0.960 25 1 1989 2019
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 586 125 0.400 None 0.929 14 1 1990 2019
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		disease Neoplasms Neoplastic Process 557 91 0.340 None 1.000 4 2006 2019
CUI: C2930471
Disease: Bilateral Wilms Tumor
Bilateral Wilms Tumor 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 31 0.310 None 1.000 2 2016 2017
CUI: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 644 23 0.310 None 1.000 2 2014 2017
CUI: C0751483
Disease: Familial Retinoblastoma
Familial Retinoblastoma 		disease Neoplasms; Eye Diseases Neoplastic Process 12 4 0.300 None 1.000 2 2013 2013
CUI: C1275668
Disease: Melanotic medulloblastoma
Melanotic medulloblastoma 		disease Neoplasms Neoplastic Process 43 0.300 None 1.000 1 2009 2009
CUI: C0007621
Disease: Neoplastic Cell Transformation
Neoplastic Cell Transformation 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 143 0.300 None 1.000 1 2012 2012
CUI: C0205833
Disease: Medullomyoblastoma
Medullomyoblastoma 		disease Neoplasms Neoplastic Process 43 0.300 None 1.000 1 2009 2009
CUI: C0008625
Disease: Chromosome Aberrations
Chromosome Aberrations 		group Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 16 0.300 None 1.000 1 2015 2015
CUI: C1368275
Disease: Pigmented Basal Cell Carcinoma
Pigmented Basal Cell Carcinoma 		disease Neoplasms Neoplastic Process 28 0.300 None 1.000 1 2016 2016
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 112 6 0.300 moderate 1.000 1 2005 2005
CUI: C0027540
Disease: Necrosis
Necrosis 		phenotype Pathological Conditions, Signs and Symptoms Organ or Tissue Function 60 0.300 None 1.000 1 2011 2011
CUI: C0751291
Disease: Desmoplastic Medulloblastoma
Desmoplastic Medulloblastoma 		disease Neoplasms Neoplastic Process 54 1 0.300 None 1.000 1 2009 2009
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		disease Neoplasms Neoplastic Process 325 30 0.300 None 1.000 1 2013 2013
CUI: C0020507
Disease: Hyperplasia
Hyperplasia 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 131 0.300 None 1.000 1 2015 2015
CUI: C0004403
Disease: Autosome Abnormalities
Autosome Abnormalities 		group Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 16 0.300 None 1.000 1 2015 2015
CUI: C2931189
Disease: Neural crest tumor
Neural crest tumor 		disease Neoplasms; Endocrine System Diseases Disease or Syndrome 18 1 0.300 None 0
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 1189 238 0.300 limited 0
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		disease Neoplasms Neoplastic Process 3177 281 0.200 None 1.000 14 2 1988 2019